Genetic Distance (cM) Physical Distance (bp) LOD score Chr Start End Ref Alt MutType Func.Sum cDNA_change AA_change AA_property_before_change AA_property_after_change Human_symbol Mouse_symbol Ensemble ID Approved Name Genomic Coordinate Function Description Human Disease KO Mouse Phenotype Pathway Biological Process Cellular Component Molecular Function GeneCards UniprotKB HPO OMIM MGI PubMed avsnp147 1000g_MAF esp6500_MAF exac03_MAF noxious_ratio pred_noxious pred_covered Func.refGene Func.knownGene Func.ensGene Gene.refGene Gene.knownGene Gene.ensGene ExonicFunc.refGene ExonicFunc.knownGene ExonicFunc.ensGene AAChange.refGene AAChange.knownGene AAChange.ensGene 301_Female_Control Quality;R|A_301_Female_Control 401_Male_Patient Quality;R|A_401_Male_Patient 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 100017453 100017453 T G snp nonsynonymous SNV A1214C D405A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral LOXL4 Loxl4 ENSG00000138131 lysyl oxidase like 4 chr10:100007447-100028007 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008] brain aneurysm; Alzheimer's disease Crosslinking of collagen fibrils GO:0006898;receptor-mediated endocytosis;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0016020;membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA GO:0005044;scavenger receptor activity;IEA|GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016641;oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LOXL4 https://www.uniprot.org/uniprot/Q96JB6 https://www.ncbi.nlm.nih.gov/omim/?term=607318 http://www.informatics.jax.org/searchtool/Search.do?query=LOXL4&submit=Quick%0D%7680ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LOXL4 rs1983864 0.36222 0.2514 0.3737 0.77 10 13 exonic exonic exonic LOXL4 LOXL4 ENSG00000138131 nonsynonymous SNV nonsynonymous SNV unknown LOXL4:NM_032211:exon8:c.A1214C:p.D405A, LOXL4:uc001kpa.1:exon8:c.A1214C:p.D405A, UNKNOWN Het;T>G 2271;91|97 Hom;T>G 3838;0|128 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 100144782 100144782 C T snp nonsynonymous SNV G1597A A533T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral PYROXD2 Pyroxd2 ENSG00000119943 pyridine nucleotide-disulphide oxidoreductase domain 2 chr10:100143322-100174941 Thyrotropin; Alzheimer's disease ; Metabolome GO:0055114;oxidation-reduction process;IEA GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2 https://www.uniprot.org/uniprot/Q8N2H3 http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2 rs2296441 0.404553 0.3269 0.3710 0.31 4 13 exonic exonic exonic PYROXD2 PYROXD2 ENSG00000119943 nonsynonymous SNV nonsynonymous SNV unknown PYROXD2:NM_032709:exon15:c.G1597A:p.A533T, PYROXD2:uc001kpc.3:exon15:c.G1597A:p.A533T, UNKNOWN Het;C>T 1038;68|52 Hom;C>T 2973;2|114 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 100148176 100148176 A G snp nonsynonymous SNV T1382C M461T hydrophobic,neutral polar,hydrophilic,neutral PYROXD2 Pyroxd2 ENSG00000119943 pyridine nucleotide-disulphide oxidoreductase domain 2 chr10:100143322-100174941 Thyrotropin; Alzheimer's disease ; Metabolome GO:0055114;oxidation-reduction process;IEA GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2 https://www.uniprot.org/uniprot/Q8N2H3 http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2 rs2147896 0.599641 0.4966 0.4745 0.23 3 13 exonic exonic exonic PYROXD2 PYROXD2 ENSG00000119943 nonsynonymous SNV nonsynonymous SNV unknown PYROXD2:NM_032709:exon13:c.T1382C:p.M461T, PYROXD2:uc001kpc.3:exon13:c.T1382C:p.M461T, UNKNOWN Het;A>G 469;65|29 Hom;A>G 2531;0|95 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 101595996 101595996 T A snp nonsynonymous SNV T3563A V1188E aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) ABCC2 Abcc2 ENSG00000023839 ATP binding cassette subfamily C member 2 chr10:101542489-101611949 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008] Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid| Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood. ABC-family proteins mediated transport GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABCC2 https://www.uniprot.org/uniprot/Q92887 https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601107 http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2 rs17222723 0.0373403 0.0610 0.0430 0.08 1 13 exonic exonic exonic ABCC2 ABCC2 ENSG00000023839 nonsynonymous SNV nonsynonymous SNV unknown ABCC2:NM_000392:exon25:c.T3563A:p.V1188E, ABCC2:uc001kqf.2:exon25:c.T3563A:p.V1188E, UNKNOWN Het;T>A 1000;41|48 Hom;T>A 1706;0|60 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 101611294 101611294 G A snp nonsynonymous SNV G4544A C1515Y polar,hydrophobic,neutral aromatic,polar,hydrophobic ABCC2 Abcc2 ENSG00000023839 ATP binding cassette subfamily C member 2 chr10:101542489-101611949 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008] Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid| Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood. ABC-family proteins mediated transport GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABCC2 https://www.uniprot.org/uniprot/Q92887 https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601107 http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2 rs8187710 0.0678914 0.0942 0.0524 0.08 1 13 exonic exonic exonic ABCC2 ABCC2 ENSG00000023839 nonsynonymous SNV nonsynonymous SNV unknown ABCC2:NM_000392:exon32:c.G4544A:p.C1515Y, ABCC2:uc001kqf.2:exon32:c.G4544A:p.C1515Y, UNKNOWN Het;G>A 662;84|41 Hom;G>A 3098;1|119 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 101689378 101689378 G C snp nonsynonymous SNV C1143G S381R polar,hydrophilic,neutral polar,hydrophilic,charged(+) DNMBP Dnmbp ENSG00000107554 dynamin binding protein chr10:101635334-101769676 This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Alzheimer's disease; Alzheimer's disease GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DNMBP https://www.uniprot.org/uniprot/Q6XZF7 https://www.ncbi.nlm.nih.gov/omim/?term=611282 http://www.informatics.jax.org/searchtool/Search.do?query=DNMBP&submit=Quick%0D%3614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMBP rs7077718 0.486821 0 0.5782 1 0 0 ncRNA_intronic exonic ncRNA_intronic DNMBP-AS1 DNMBP ENSG00000227695 Na nonsynonymous SNV Na Na DNMBP:uc001kqh.2:exon1:c.C1143G:p.S381R, Na Het;G>C 318;28|18 Hom;G>C 1624;0|61 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 101912064 101912064 T C snp nonsynonymous SNV A871G I291V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ERLIN1 Erlin1 ENSG00000107566 ER lipid raft associated 1 chr10:101909851-101948091 Tobacco Use Disorder; plasma levels of liver enzymes; liver enzymes Defective CFTR causes cystic fibrosis GO:0006629;lipid metabolic process;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0032933;SREBP signaling pathway;IMP|GO:0045541;negative regulation of cholesterol biosynthetic process;IMP|GO:0045717;negative regulation of fatty acid biosynthetic process;IMP|GO:0055085;transmembrane transport;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0031625;ubiquitin protein ligase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERLIN1 https://www.uniprot.org/uniprot/O75477 https://hpo.jax.org/app/browse/search?q=ERLIN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611604 http://www.informatics.jax.org/searchtool/Search.do?query=ERLIN1&submit=Quick%0D%3617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERLIN1 rs2862954 0.1877 0.3463 0.3324 0.25 3 12 exonic exonic exonic ERLIN1 ERLIN1 ENSG00000107566 nonsynonymous SNV nonsynonymous SNV unknown ERLIN1:NM_001100626:exon12:c.A871G:p.I291V,ERLIN1:NM_006459:exon11:c.A871G:p.I291V, ERLIN1:uc010qpm.2:exon11:c.A619G:p.I207V,ERLIN1:uc001kqo.4:exon12:c.A871G:p.I291V,ERLIN1:uc001kqn.4:exon11:c.A871G:p.I291V, UNKNOWN Het;T>C 1251;49|61 Hom;T>C 3062;0|115 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 101977883 101977883 C T snp nonsynonymous SNV G802A V268I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CHUK Chuk ENSG00000213341 conserved helix-loop-helix ubiquitous kinase chr10:101948055-101989376 This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008] Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Lymphoma, Non-Hodgkin; Cleft Lip|Cleft Palate; benzene haematotoxicity; Fatty Liver; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hodgkin Disease; HIV; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Sjogren's Syndrome; Hepatitis C|Remission, Spontaneous; plasma levels of liver enzymes; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; liver enzymes; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; atherosclerosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; hypertension; breast cancer; respiratory syncytial virus bronchiolitis; Alzheimer's disease ; Multiple Myeloma; Type 2 Diabetes| edema | rosiglitazone Homozygotes for targeted null mutations die neonataly and exhibit thickened, taut, adhesive skin that prevents appendages from protruding from the trunk, absence of whiskers, skeletal abnormalities, and closed esophagus. IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0003009;skeletal muscle contraction;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007252;I-kappaB phosphorylation;TAS|GO:0007266;Rho protein signal transduction;IEA|GO:0009615;response to virus;TAS|GO:0009636;response to toxic substance;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0010033;response to organic substance;IEA|GO:0010034;response to acetate;IEA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033194;response to hydroperoxide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IBA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042493;response to drug;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;TAS|GO:0043200;response to amino acid;IEA|GO:0045087;innate immune response;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0051146;striated muscle cell differentiation;IEA|GO:0051403;stress-activated MAPK cascade;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0071276;cellular response to cadmium ion;IMP|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0098586;cellular response to virus;IMP|GO:1902741;positive regulation of interferon-alpha secretion;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0008385;IkappaB kinase complex;TAS|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0035631;CD40 receptor complex;ISS|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008384;IkappaB kinase activity;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IDA|GO:0097110;scaffold protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CHUK https://hpo.jax.org/app/browse/search?q=CHUK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600664 http://www.informatics.jax.org/searchtool/Search.do?query=CHUK&submit=Quick%0D%18114ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHUK rs2230804 0.545727 0.5830 0.4791 0.15 2 13 exonic exonic exonic CHUK CHUK ENSG00000213341 nonsynonymous SNV nonsynonymous SNV unknown CHUK:NM_001278:exon9:c.G802A:p.V268I, CHUK:uc001kqp.3:exon9:c.G802A:p.V268I, UNKNOWN Het;C>T 703;28|34 Hom;C>T 1483;2|53 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 102116311 102116311 A C snp nonsynonymous SNV A670C M224L hydrophobic,neutral aliphatic,hydrophobic,neutral SCD Scd1 ENSG00000099194 stearoyl-CoA desaturase chr10:102106881-102124591 This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015] plasma HDL cholesterol (HDL-C) levels; diabetes, type 2; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone Homozygotes for targeted and spontaneous mutations exhibit alopecia, scaly skin, sebaceous gland hypoplasia, impaired ocular lubrication and synthesis and storage of triglycerides, higher lipid oxidation, reduced growth, and lower fertility in females. Fatty acyl-CoA biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005730;nucleolus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA GO:0004768;stearoyl-CoA 9-desaturase activity;TAS|GO:0005506;iron ion binding;IDA|GO:0016491;oxidoreductase activity;IDA|GO:0016717;oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCD https://www.uniprot.org/uniprot/O00767 https://www.ncbi.nlm.nih.gov/omim/?term=604031 http://www.informatics.jax.org/searchtool/Search.do?query=SCD&submit=Quick%0D%2297ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCD rs2234970 0.388978 0.3996 0.4038 0.08 1 13 exonic exonic exonic SCD SCD ENSG00000099194 nonsynonymous SNV nonsynonymous SNV unknown SCD:NM_005063:exon5:c.A670C:p.M224L, SCD:uc001kqy.3:exon5:c.A670C:p.M224L, UNKNOWN Het;A>C 777;24|36 Hom;A>C 1857;0|63 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 102222957 102222957 G C snp nonsynonymous SNV G32C C11S polar,hydrophobic,neutral polar,hydrophilic,neutral WNT8B Wnt8b ENSG00000075290 Wnt family member 8B chr10:102222798-102243501 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease Mice homozygous for a null allele are viable and healthy with no evidence of hippocampal or hypothalamic defects and normal cell proliferation in the neurogenic region of the adult dentate gyrus. Disassembly of the destruction complex and recruitment of AXIN to the membrane GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;ISS|GO:0007399;nervous system development;TAS|GO:0016055;Wnt signaling pathway;TAS|GO:0030182;neuron differentiation;IBA|GO:0032355;response to estradiol;NAS|GO:0032526;response to retinoic acid;NAS|GO:0045165;cell fate commitment;IBA|GO:0048263;determination of dorsal identity;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:1904886;beta-catenin destruction complex disassembly;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA GO:0005102;receptor binding;IEA|GO:0005109;frizzled binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/WNT8B https://www.uniprot.org/uniprot/Q93098 https://www.ncbi.nlm.nih.gov/omim/?term=601396 http://www.informatics.jax.org/searchtool/Search.do?query=WNT8B&submit=Quick%0D%1537ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WNT8B rs3793771 0.186302 0.2187 0.2127 0.15 2 13 exonic exonic exonic WNT8B WNT8B ENSG00000075290 nonsynonymous SNV nonsynonymous SNV unknown WNT8B:NM_003393:exon1:c.G32C:p.C11S, WNT8B:uc001krb.3:exon1:c.G32C:p.C11S, UNKNOWN Het;G>C 424;29|20 Hom;G>C 1328;0|48 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 102247408 102247408 C A snp nonsynonymous SNV G3505T A1169S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral SEC31B Sec31b ENSG00000075826 SEC31 homolog B, COPII coat complex component chr10:102246399-102289628 This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008] Alzheimer's disease GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEC31B https://www.uniprot.org/uniprot/Q9NQW1 https://www.ncbi.nlm.nih.gov/omim/?term=610258 http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B rs2298075 0.188898 0.2201 0.2201 0.15 2 13 exonic exonic exonic SEC31B SEC31B ENSG00000075826 nonsynonymous SNV nonsynonymous SNV unknown SEC31B:NM_015490:exon26:c.G3505T:p.A1169S, SEC31B:uc001krf.1:exon25:c.G1804T:p.A602S,SEC31B:uc001krd.1:exon26:c.G2116T:p.A706S,SEC31B:uc001krc.1:exon26:c.G3505T:p.A1169S,SEC31B:uc010qpo.1:exon25:c.G3502T:p.A1168S,SEC31B:uc001kre.1:exon25:c.G1798T:p.A600S, UNKNOWN Het;C>A 1079;64|52 Hom;C>A 3463;0|132 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 102265183 102265183 G A snp nonsynonymous SNV C1114T P372S hydrophobic,neutral polar,hydrophilic,neutral SEC31B Sec31b ENSG00000075826 SEC31 homolog B, COPII coat complex component chr10:102246399-102289628 This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008] Alzheimer's disease GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEC31B https://www.uniprot.org/uniprot/Q9NQW1 https://www.ncbi.nlm.nih.gov/omim/?term=610258 http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B rs2295772 0.185104 0.2115 0.2124 0.23 3 13 exonic exonic exonic SEC31B SEC31B ENSG00000075826 nonsynonymous SNV nonsynonymous SNV unknown SEC31B:NM_015490:exon10:c.C1114T:p.P372S, SEC31B:uc001krc.1:exon10:c.C1114T:p.P372S,SEC31B:uc010qpo.1:exon9:c.C1111T:p.P371S, UNKNOWN Het;G>A 705;61|40 Hom;G>A 1822;2|65 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 102265847 102265847 A C snp nonsynonymous SNV T994G S332A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral SEC31B Sec31b ENSG00000075826 SEC31 homolog B, COPII coat complex component chr10:102246399-102289628 This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008] Alzheimer's disease GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEC31B https://www.uniprot.org/uniprot/Q9NQW1 https://www.ncbi.nlm.nih.gov/omim/?term=610258 http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B rs2295774 0.14996 0.1713 0.1980 0.77 10 13 exonic exonic exonic SEC31B SEC31B ENSG00000075826 nonsynonymous SNV nonsynonymous SNV unknown SEC31B:NM_015490:exon9:c.T994G:p.S332A, SEC31B:uc010qpq.1:exon10:c.T523G:p.S175A,SEC31B:uc001krc.1:exon9:c.T994G:p.S332A,SEC31B:uc010qpp.1:exon10:c.T1003G:p.S335A,SEC31B:uc010qpo.1:exon8:c.T991G:p.S331A,SEC31B:uc009xwn.1:exon9:c.T994G:p.S332A,SEC31B:uc009xwo.1:exon12:c.T994G:p.S332A, UNKNOWN Het;A>C 851;49|38 Hom;A>C 1547;0|55 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 102269085 102269085 C A snp nonsynonymous SNV G387T L129F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral SEC31B Sec31b ENSG00000075826 SEC31 homolog B, COPII coat complex component chr10:102246399-102289628 This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008] Alzheimer's disease GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEC31B https://www.uniprot.org/uniprot/Q9NQW1 https://www.ncbi.nlm.nih.gov/omim/?term=610258 http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B rs3793706 0.194089 0.2274 0.2139 0.15 2 13 exonic exonic exonic SEC31B SEC31B ENSG00000075826 nonsynonymous SNV nonsynonymous SNV unknown SEC31B:NM_015490:exon4:c.G387T:p.L129F, SEC31B:uc001krc.1:exon4:c.G387T:p.L129F,SEC31B:uc010qpp.1:exon4:c.G387T:p.L129F,SEC31B:uc010qpo.1:exon3:c.G387T:p.L129F,SEC31B:uc009xwn.1:exon4:c.G387T:p.L129F,SEC31B:uc009xwo.1:exon7:c.G387T:p.L129F, UNKNOWN Het;C>A 1018;42|45 Hom;C>A 1804;0|67 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 102269206 102269206 A G snp nonsynonymous SNV T266C V89A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SEC31B Sec31b ENSG00000075826 SEC31 homolog B, COPII coat complex component chr10:102246399-102289628 This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008] Alzheimer's disease GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEC31B https://www.uniprot.org/uniprot/Q9NQW1 https://www.ncbi.nlm.nih.gov/omim/?term=610258 http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B rs3763695 0.185304 0.2111 0.2097 0.23 3 13 exonic exonic exonic SEC31B SEC31B ENSG00000075826 nonsynonymous SNV nonsynonymous SNV unknown SEC31B:NM_015490:exon4:c.T266C:p.V89A, SEC31B:uc001krc.1:exon4:c.T266C:p.V89A,SEC31B:uc010qpp.1:exon4:c.T266C:p.V89A,SEC31B:uc010qpo.1:exon3:c.T266C:p.V89A,SEC31B:uc009xwn.1:exon4:c.T266C:p.V89A,SEC31B:uc009xwo.1:exon7:c.T266C:p.V89A, UNKNOWN Het;A>G 1174;43|54 Hom;A>G 3969;0|142 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 103340056 103340056 G A snp nonsynonymous SNV C1312T R438W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral POLL Poll ENSG00000166169 DNA polymerase lambda chr10:103338639-103348027 This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010] Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; bladder cancer; Leukemia, Lymphocytic, Chronic, B-Cell Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes. Nonhomologous End-Joining (NHEJ) GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006289;nucleotide-excision repair;IDA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;NAS|GO:0071897;DNA biosynthetic process;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0034061;DNA polymerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/POLL https://www.ncbi.nlm.nih.gov/omim/?term=606343 http://www.informatics.jax.org/searchtool/Search.do?query=POLL&submit=Quick%0D%11717ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POLL rs3730477 0.0998403 0.1761 0.1678 0.46 6 13 exonic exonic exonic POLL POLL ENSG00000166169 nonsynonymous SNV nonsynonymous SNV unknown POLL:NM_013274:exon8:c.C1312T:p.R438W,POLL:NM_001174085:exon8:c.C1036T:p.R346W,POLL:NM_001174084:exon8:c.C1312T:p.R438W, POLL:uc001ktf.3:exon8:c.C1036T:p.R346W,POLL:uc001kth.1:exon4:c.C487T:p.R163W,POLL:uc010qqc.2:exon7:c.C388T:p.R130W,POLL:uc001ktm.3:exon8:c.C1312T:p.R438W,POLL:uc001ktl.3:exon8:c.C1048T:p.R350W,POLL:uc001ktd.1:exon2:c.C331T:p.R111W,POLL:uc001ktg.1:exon7:c.C1312T:p.R438W,POLL:uc001kte.1:exon3:c.C388T:p.R130W,POLL:uc010qqa.2:exon6:c.C529T:p.R177W,POLL:uc001ktj.2:exon8:c.C1312T:p.R438W,POLL:uc001kti.2:exon8:c.C1312T:p.R438W, UNKNOWN Het;G>A 533;46|30 Hom;G>A 1526;0|56 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 103368654 103368654 T C snp nonsynonymous SNV T467C L156S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral DPCD Dpcd ENSG00000166171 deleted in primary ciliary dyskinesia homolog (mouse) chr10:103330317-103369425 This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016] Alzheimer's disease GO:0003351;epithelial cilium movement;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0021591;ventricular system development;IEA|GO:0021670;lateral ventricle development;IEA|GO:0021678;third ventricle development;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0060972;left/right pattern formation;IEA GO:0005634;nucleus;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DPCD https://www.ncbi.nlm.nih.gov/omim/?term=616467 http://www.informatics.jax.org/searchtool/Search.do?query=DPCD&submit=Quick%0D%11719ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPCD rs7006 0.227236 0.3070 0.2499 0.15 2 13 exonic exonic exonic DPCD DPCD ENSG00000166171 nonsynonymous SNV nonsynonymous SNV unknown DPCD:NM_015448:exon5:c.T467C:p.L156S, DPCD:uc001ktn.3:exon5:c.T467C:p.L156S, UNKNOWN Het;T>C 1260;73|64 Hom;T>C 2320;2|92 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 104140350 104140350 G A snp nonsynonymous SNV G5068A G1690S aliphatic,neutral polar,hydrophilic,neutral GBF1 Gbf1 ENSG00000107862 golgi brefeldin A resistant guanine nucleotide exchange factor 1 chr10:104005289-104142656 This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Echocardiography; Alzheimer's disease COPI-dependent Golgi-to-ER retrograde traffic GO:0002263;cell activation involved in immune response;IMP|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006895;Golgi to endosome transport;IMP|GO:0007030;Golgi organization;IMP|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0030593;neutrophil chemotaxis;IMP|GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048205;COPI coating of Golgi vesicle;IMP|GO:0061162;establishment of monopolar cell polarity;IMP|GO:0070973;protein localization to endoplasmic reticulum exit site;IMP|GO:0090166;Golgi disassembly;IMP|GO:0097111;endoplasmic reticulum-Golgi intermediate compartment organization;IMP|GO:1903409;reactive oxygen species biosynthetic process;IMP|GO:1903420;protein localization to endoplasmic reticulum tubular network;IMP|GO:2000008;regulation of protein localization to cell surface;IMP GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005795;Golgi stack;IEA|GO:0005801;cis-Golgi network;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GBF1 https://www.uniprot.org/uniprot/Q92538 https://www.ncbi.nlm.nih.gov/omim/?term=603698 http://www.informatics.jax.org/searchtool/Search.do?query=GBF1&submit=Quick%0D%3649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GBF1 rs11191274 0.0517173 0.0941 0.0971 0.15 2 13 exonic exonic exonic GBF1 GBF1 ENSG00000107862 nonsynonymous SNV nonsynonymous SNV unknown GBF1:NM_001199378:exon38:c.G5068A:p.G1690S,GBF1:NM_004193:exon38:c.G5077A:p.G1693S,GBF1:NM_001199379:exon38:c.G5065A:p.G1689S, GBF1:uc001kux.2:exon38:c.G5077A:p.G1693S,GBF1:uc001kuz.2:exon38:c.G5068A:p.G1690S,GBF1:uc001kuy.2:exon38:c.G5065A:p.G1689S, UNKNOWN Het;G>A 3621;118|167 Hom;G>A 4881;4|186 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 105763026 105763026 C T snp nonsynonymous SNV C2090T T697I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral SLK Slk ENSG00000065613 STE20 like kinase chr10:105726959-105788991 Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease Mice homozygous for a gene trapped allele die by E14.5, exhibiting severe developmental defects, impaired neuronal and skeletal muscle development, abnormal placental differentiation and vascularization, and increased apoptosis. GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030334;regulation of cell migration;IMP|GO:0031122;cytoplasmic microtubule organization;IMP|GO:0042981;regulation of apoptotic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0051893;regulation of focal adhesion assembly;IDA GO:0005737;cytoplasm;IDA|GO:0031252;cell leading edge;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLK https://www.uniprot.org/uniprot/Q9H2G2 https://www.ncbi.nlm.nih.gov/omim/?term=616563 http://www.informatics.jax.org/searchtool/Search.do?query=SLK&submit=Quick%0D%1185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLK rs3740469 0.163938 0.1949 0.2161 0.38 5 13 exonic exonic exonic SLK SLK ENSG00000065613 nonsynonymous SNV nonsynonymous SNV unknown SLK:NM_014720:exon9:c.C2090T:p.T697I,SLK:NM_001304743:exon9:c.C2090T:p.T697I, SLK:uc001kxo.1:exon9:c.C2090T:p.T697I,SLK:uc001kxp.1:exon9:c.C2090T:p.T697I, UNKNOWN Het;C>T 1380;53|61 Hom;C>T 4293;0|154 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 105793750 105793750 T C snp nonsynonymous SNV A4109G D1370G polar,hydrophilic,charged(-) aliphatic,neutral COL17A1 Col17a1 ENSG00000065618 collagen type XVII alpha 1 chain chr10:105791044-105845760 This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008] kidney aging; Alzheimer's disease ; bullous pemphigoid; Tobacco Use Disorder; periodontitis; Cardiomegaly Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. Collagen chain trimerization GO:0007160;cell-matrix adhesion;TAS|GO:0008544;epidermis development;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0050776;regulation of immune response;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005604;basement membrane;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030056;hemidesmosome;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COL17A1 https://www.uniprot.org/uniprot/Q9UMD9 https://hpo.jax.org/app/browse/search?q=COL17A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=113811 http://www.informatics.jax.org/searchtool/Search.do?query=COL17A1&submit=Quick%0D%1187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL17A1 rs17116350 0.258586 0.2903 0.2482 0.15 2 13 exonic exonic exonic COL17A1 COL17A1 ENSG00000065618 nonsynonymous SNV nonsynonymous SNV unknown COL17A1:NM_000494:exon52:c.A4109G:p.D1370G, COL17A1:uc001kxr.3:exon52:c.A4109G:p.D1370G, UNKNOWN Het;T>C 803;88|42 Hom;T>C 2653;0|97 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 105953623 105953623 C T snp splicing 1442+1G>A CFAP43 Cfap43 ENSG00000197748 Cilia And Flagella Associated Protein 43 chr10:105889646-105992120 This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016] ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects. http://www.genecards.org/index.php?path=/Search/keyword/CFAP43 https://www.uniprot.org/uniprot/Q8NDM7 https://hpo.jax.org/app/browse/search?q=CFAP43&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617558 http://www.informatics.jax.org/searchtool/Search.do?query=CFAP43&submit=Quick%0D%0ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CFAP43 rs767058543 0 0 1.747e-05 1.00 4 4 splicing exonic;splicing exonic;splicing CFAP43(NM_025145:exon12:c.1442+1G>A) WDR96;WDR96(uc001kxw.3:exon12:c.1442+1G>A,uc001kxx.4:exon12:c.1445+1G>A) ENSG00000197748;ENSG00000197748(ENST00000428666:exon12:c.1445+1G>A,ENST00000357060:exon12:c.1442+1G>A,ENST00000278064:exon12:c.1235+1G>A) Na synonymous SNV unknown Na WDR96:uc001kxy.1:exon11:c.G1446A:p.V482V, UNKNOWN Het;C>T 1104;52|55 Hom;C>T 3839;0|144 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 106034982 106034982 A G snp splicing 35-2A>G GSTO2 Gsto2 ENSG00000065621 glutathione S-transferase omega 2 chr10:106028631-106064703 The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010] Arsenic Poisoning|Cardiovascular Diseases; arsenic metabolism; breast cancer; colorectal cancer; liver cancer; Skin Diseases; chronic obstructive pulmonary disease; Parkinsons disease; Carcinoma|Urologic Neoplasms; skin cancer, non-melanoma; Breast Neoplasms|Mammary Neoplasms; Carcinoma, Hepatocellular|Liver Neoplasms; ovarian cancer; cognitive trait; longevity; Parkinson's disease; lung cancer; Tobacco Use Disorder; Alzheimer's disease ; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Huntington's disease; normal variation; Bladder Neoplasm|Kidney Neoplasms|Ureteral Neoplasms|Urinary Bladder Neoplasms; Alzheimer's Disease; Stomach Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Arsenic Poisoning; Respiratory Function Tests; asthma; breast cancer; Aging/ Telomere Length; Amyotrophic Lateral Sclerosis| Vitamin C (ascorbate) metabolism GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0019852;L-ascorbic acid metabolic process;TAS|GO:0055114;oxidation-reduction process;IDA|GO:0071243;cellular response to arsenic-containing substance;IDA|GO:0098869;cellular oxidant detoxification;IEA|GO:1901687;glutathione derivative biosynthetic process;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0004364;glutathione transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IDA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0045174;glutathione dehydrogenase (ascorbate) activity;TAS|GO:0050610;methylarsonate reductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GSTO2 https://www.uniprot.org/uniprot/Q9H4Y5 https://www.ncbi.nlm.nih.gov/omim/?term=612314 http://www.informatics.jax.org/searchtool/Search.do?query=GSTO2&submit=Quick%0D%1188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GSTO2 rs151042116 0.000199681 0 0.0002 1.00 4 4 splicing splicing splicing GSTO2(NM_001191013:exon3:c.35-2A>G,NM_183239:exon3:c.35-2A>G) GSTO2(uc001kyb.3:exon3:c.35-2A>G,uc010qqx.2:exon3:c.35-2A>G,uc010qqw.1:exon2:c.35-2A>G) ENSG00000065621(ENST00000450629:exon3:c.35-2A>G,ENST00000338595:exon3:c.35-2A>G,ENST00000401888:exon2:c.35-2A>G) Na Na Na Na Na Na Het;A>G 826;54|39 Hom;A>G 2665;2|102 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 112595719 112595719 G C snp nonsynonymous SNV G3667C E1223Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral RBM20 Rbm20 ENSG00000203867 RNA binding motif protein 20 chr10:112404155-112599227 This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014] Tobacco Use Disorder; Blood Pressure Mice homozygous for an allele lacking the RNA recognition motif exhibit increased titin compliance, and attenuated Frank-Starling mechanism. GO:0006397;mRNA processing;IEA|GO:0007507;heart development;IMP|GO:0008380;RNA splicing;IEA|GO:0033120;positive regulation of RNA splicing;IMP GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RBM20 https://hpo.jax.org/app/browse/search?q=RBM20&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613171 http://www.informatics.jax.org/searchtool/Search.do?query=RBM20&submit=Quick%0D%17155ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM20 rs942077 0.697085 0.7584 0.7637 0.58 7 12 exonic exonic exonic RBM20 RBM20 ENSG00000203867 nonsynonymous SNV nonsynonymous SNV unknown RBM20:NM_001134363:exon14:c.G3667C:p.E1223Q, RBM20:uc001kzf.2:exon14:c.G3667C:p.E1223Q, UNKNOWN Het;G>C 844;51|37 Hom;G>C 1971;0|76 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 113935379 113935379 T C snp nonsynonymous SNV A392G E131G polar,hydrophilic,charged(-) aliphatic,neutral GPAM Gpam ENSG00000119927 glycerol-3-phosphate acyltransferase, mitochondrial chr10:113909624-113975135 This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice. RUNX1 regulates estrogen receptor mediated transcription GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPAM https://www.uniprot.org/uniprot/Q9HCL2 https://www.ncbi.nlm.nih.gov/omim/?term=602395 http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM rs10787428 0.554712 0.5593 0.5667 0.69 9 13 exonic exonic exonic GPAM GPAM ENSG00000119927 nonsynonymous SNV nonsynonymous SNV unknown GPAM:NM_001244949:exon6:c.A392G:p.E131G,GPAM:NM_020918:exon6:c.A392G:p.E131G, GPAM:uc001kzq.1:exon6:c.A392G:p.E131G,GPAM:uc001kzp.3:exon6:c.A392G:p.E131G,GPAM:uc009xxy.2:exon6:c.A392G:p.E131G, UNKNOWN Het;T>C 477;34|21 Hom;T>C 1815;0|62 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 113940329 113940329 T C snp nonsynonymous SNV A127G I43V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GPAM Gpam ENSG00000119927 glycerol-3-phosphate acyltransferase, mitochondrial chr10:113909624-113975135 This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice. RUNX1 regulates estrogen receptor mediated transcription GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPAM https://www.uniprot.org/uniprot/Q9HCL2 https://www.ncbi.nlm.nih.gov/omim/?term=602395 http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM rs2792751 0.806909 0.7809 0.7428 0.08 1 13 exonic exonic exonic GPAM GPAM ENSG00000119927 nonsynonymous SNV nonsynonymous SNV unknown GPAM:NM_001244949:exon4:c.A127G:p.I43V,GPAM:NM_020918:exon4:c.A127G:p.I43V, GPAM:uc001kzq.1:exon4:c.A127G:p.I43V,GPAM:uc001kzp.3:exon4:c.A127G:p.I43V,GPAM:uc009xxy.2:exon4:c.A127G:p.I43V, UNKNOWN Het;T>C 422;25|22 Hom;T>C 1453;0|55 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 115334124 115334124 C T snp nonsynonymous SNV C149T T50M polar,hydrophilic,neutral hydrophobic,neutral HABP2 Habp2 ENSG00000148702 hyaluronan binding protein 2 chr10:115310596-115349361 This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] Sleep; Type 2 Diabetes| edema | rosiglitazone; null; Alzheimer's disease ; Blood Pressure Determination; smoking cessation; Hepatitis C|Liver Cirrhosis; thromboembolism, venous; Venous Thrombosis; Hemorrhagic Disorders; cholesterol; triglycerides; atherosclerosis, coronary Mice homozygous for a knock-out allele exhibit decreased lethality but increased liver fibrosis, inflammation and injury following bile duct ligation. GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS GO:0004252;serine-type endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005539;glycosaminoglycan binding;TAS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HABP2 https://www.uniprot.org/uniprot/Q14520 https://hpo.jax.org/app/browse/search?q=HABP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603924 http://www.informatics.jax.org/searchtool/Search.do?query=HABP2&submit=Quick%0D%9150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HABP2 rs3740530 0.534545 0.5441 0.6235 1 0 0 exonic exonic exonic HABP2 HABP2 ENSG00000148702 synonymous SNV nonsynonymous SNV unknown HABP2:NM_004132:exon3:c.C183T:p.H61H,HABP2:NM_001177660:exon3:c.C105T:p.H35H, HABP2:uc010qry.1:exon4:c.C149T:p.T50M, UNKNOWN Het;C>T 536;45|30 Hom;C>T 2691;0|103 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 115370274 115370274 T C snp nonsynonymous SNV A3442G I1148V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NRAP Nrap ENSG00000197893 nebulin related anchoring protein chr10:115348475-115423886 Breath Tests; smoking cessation; Disease; Tobacco Use Disorder; Alzheimer's disease GO:0008150;biological_process;ND GO:0005916;fascia adherens;ISS|GO:0005927;muscle tendon junction;ISS|GO:0030016;myofibril;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NRAP https://www.ncbi.nlm.nih.gov/omim/?term=602873 http://www.informatics.jax.org/searchtool/Search.do?query=NRAP&submit=Quick%0D%16747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRAP rs10749138 0.462859 0.4333 0.4627 0.15 2 13 exonic exonic exonic NRAP NRAP ENSG00000197893 nonsynonymous SNV nonsynonymous SNV unknown NRAP:NM_006175:exon30:c.A3442G:p.I1148V,NRAP:NM_198060:exon31:c.A3547G:p.I1183V,NRAP:NM_001261463:exon31:c.A3547G:p.I1183V, NRAP:uc001lal.4:exon31:c.A3547G:p.I1183V,NRAP:uc001lak.4:exon30:c.A3442G:p.I1148V,NRAP:uc001laj.4:exon31:c.A3547G:p.I1183V, UNKNOWN Het;T>C 1374;47|37 Hom;T>C 4973;0|118 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 115377290 115377290 T C snp nonsynonymous SNV A2792G D931G polar,hydrophilic,charged(-) aliphatic,neutral NRAP Nrap ENSG00000197893 nebulin related anchoring protein chr10:115348475-115423886 Breath Tests; smoking cessation; Disease; Tobacco Use Disorder; Alzheimer's disease GO:0008150;biological_process;ND GO:0005916;fascia adherens;ISS|GO:0005927;muscle tendon junction;ISS|GO:0030016;myofibril;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NRAP https://www.ncbi.nlm.nih.gov/omim/?term=602873 http://www.informatics.jax.org/searchtool/Search.do?query=NRAP&submit=Quick%0D%16747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRAP rs77678145 0.0700879 0.0639 0.0742 0.46 6 13 exonic exonic exonic NRAP NRAP ENSG00000197893 nonsynonymous SNV nonsynonymous SNV unknown NRAP:NM_006175:exon25:c.A2792G:p.D931G,NRAP:NM_198060:exon26:c.A2897G:p.D966G,NRAP:NM_001261463:exon26:c.A2897G:p.D966G, NRAP:uc001lal.4:exon26:c.A2897G:p.D966G,NRAP:uc001lak.4:exon25:c.A2792G:p.D931G,NRAP:uc001laj.4:exon26:c.A2897G:p.D966G, UNKNOWN Het;T>C 706;34|34 Hom;T>C 2007;0|78 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 115381747 115381747 G A snp nonsynonymous SNV C2545T R849C polar,hydrophilic,charged(+) polar,hydrophobic,neutral NRAP Nrap ENSG00000197893 nebulin related anchoring protein chr10:115348475-115423886 Breath Tests; smoking cessation; Disease; Tobacco Use Disorder; Alzheimer's disease GO:0008150;biological_process;ND GO:0005916;fascia adherens;ISS|GO:0005927;muscle tendon junction;ISS|GO:0030016;myofibril;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NRAP https://www.ncbi.nlm.nih.gov/omim/?term=602873 http://www.informatics.jax.org/searchtool/Search.do?query=NRAP&submit=Quick%0D%16747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRAP rs868738 0.209465 0.2583 0.2988 0.62 8 13 exonic exonic exonic NRAP NRAP ENSG00000197893 nonsynonymous SNV nonsynonymous SNV unknown NRAP:NM_006175:exon23:c.C2545T:p.R849C,NRAP:NM_198060:exon24:c.C2650T:p.R884C,NRAP:NM_001261463:exon24:c.C2650T:p.R884C, NRAP:uc001lal.4:exon24:c.C2650T:p.R884C,NRAP:uc001lak.4:exon23:c.C2545T:p.R849C,NRAP:uc001laj.4:exon24:c.C2650T:p.R884C, UNKNOWN Het;G>A 1057;88|57 Hom;G>A 3171;2|119 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 115644040 115644040 G A snp nonsynonymous SNV G940A V314I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NHLRC2 Nhlrc2 ENSG00000196865 NHL repeat containing 2 chr10:115614420-115676953 Alzheimer's disease Platelet degranulation GO:0002576;platelet degranulation;TAS|GO:0045454;cell redox homeostasis;IEA GO:0005576;extracellular region;TAS|GO:0031093;platelet alpha granule lumen;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NHLRC2 https://hpo.jax.org/app/browse/search?q=NHLRC2&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=NHLRC2&submit=Quick%0D%16484ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NHLRC2 rs7913176 0.223442 0.2388 0.2720 0.54 7 13 exonic exonic exonic NHLRC2 NHLRC2 ENSG00000196865 nonsynonymous SNV nonsynonymous SNV unknown NHLRC2:NM_198514:exon5:c.G940A:p.V314I, NHLRC2:uc001lax.2:exon5:c.G940A:p.V314I, UNKNOWN Het;G>A 1410;63|70 Hom;G>A 3499;0|138 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 115804036 115804036 A G snp nonsynonymous SNV A145G S49G polar,hydrophilic,neutral aliphatic,neutral ADRB1 Adrb1 ENSG00000043591 adrenoceptor beta 1 chr10:115803806-115806667 The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008] cardiovascular disease; Heart Failure|Ventricular Dysfunction, Left|Ventricular Remodeling; heart rate; left ventricular funtion; heart failure; Alzheimer's disease ; Syncope; Bulimia; depressive disorder, major; sudden infant death; angina, unstable cardiac death cerebrovascular disease, ischemic congestive heart failure heart rate myocardial infarct; Heart Failure; coronary heart disease; heart rate; left ventricular function; left ventricular ejection fraction; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone; Hypertension|Nephrosclerosis; left ventricular hypertrophy; resting heart rate; Heart Failure|Myocardial Infarction; normal variation; body mass; Chronic renal failure|Hypertrophy, Left Ventricular|Kidney Failure, Chronic|Left Ventricular Hypertrophy|Ventricular Dysfunction, Left; nonfatal acute myocardial infarction; obesity; Meningococcal Infections; blood pressure, arterial hypertension; Cardiovascular Diseases|Myocardial Ischemia; Atrial Fibrillation|Hypertension; Coronary Disease|Hyperlipoproteinemia Type II; personality disorders; cardiomyopathy; heart failure; Cardiovascular Diseases|Sleep Apnea, Obstructive; Tachycardia, Ventricular; heart rate, resting; endurance performance; Cardiomyopathy, Dilated|; Glaucoma, Open-Angle; Heart Failure|Myocardial ischemia; Hemoglobins; left ventricular ejection fraction troponin, cardiac; Obesity; Obesity|Obesity, Morbid; myocardial infarct; timolol pharmacokinetics; hypertension; left ventricular hypertrophy; Coronary Artery Disease; Coronary Disease|Hypertension; acute coronary syndrome; Coronary Artery Disease|Death, Sudden, Cardiac|Tachycardia, Ventricular|Ventricular Fibrillation; Cardiovascular Diseases|Diabetic Nephropathies|Diabetic Nephropathy; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Atrial Fibrillation; blood pressure; heart rate; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy|Heart Failure|Myocardial ischemia; Hyperlipidemias|Hypertension|Myocardial Infarction; hypertension; null; Cadaver|Cardiovascular Diseases|Death, Sudden, Cardiac|; several psychiatric disorders; Heart Failure|Tachycardia, Ventricular; Takotsubo Cardiomyopathy; obesity|hypertension; Hypertension; BMI- Edema rosiglitazone or pioglitazone; Long QT Syndrome; blood pressure, arterial; heart rate; adrenaline; coronary flow velocity; ECG; noradrenaline; Kidney Failure, Chronic; Alzheimer's disease; Chronic Obstructive Pulmonary Disease; betaxolol hydrochloride efficacy; antihypertensive response to metoprolol.; blood pressure, arterial; left ventricular remodeling; Hypertension|Myocardial Infarction|Stroke; ADHD | attention-deficit hyperactivity disorder; Glaucoma; Myocardial Infarction; Syncope, Vasovagal|Vasovagal syncope; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy|Tachycardia, Ventricular; Low Tension Glaucoma; attention deficit disorder conduct disorder oppositional defiant disorder; pharmacogenetic studies; blood pressure, arterial; heart rate; sensitivity to beta(1)-adrenergic blockade; Sleep Apnea, Obstructive; body mass; obesity, localized; Diabetes Complications|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy|Myocardial Infarction; Coronary Disease|Myocardial Ischemia; reward dependence temperament; Tachycardia; congestive heart failure; Hypercholesterolemia|LDLC levels; cardiovascular response to metoprolol; Adiponectin; Syncope, Vasovagal; idiopathic orthostatic intolerance; Respiration Disorders; Hypertension|Occupational Diseases; Arrhythmias, Cardiac|Heart Failure; Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy Most mice homozygous for targeted mutations that inactivate the gene die prenatally, with the penetrance of lethality showing strain dependence. Surviving knockouts appear normal, but lack the chronotropic and inotropic responses seen in wild-type mice when beta-AR agonists such as isoproterenol are administered. G alpha (s) signalling events GO:0001659;temperature homeostasis;IBA|GO:0001996;positive regulation of heart rate by epinephrine-norepinephrine;IEA|GO:0001997;positive regulation of the force of heart contraction by epinephrine-norepinephrine;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0002025;norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007267;cell-cell signaling;IBA|GO:0009409;response to cold;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031649;heat generation;IEA|GO:0040015;negative regulation of multicellular organism growth;IEA|GO:0042596;fear response;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0043950;positive regulation of cAMP-mediated signaling;IDA|GO:0045823;positive regulation of heart contraction;IEA|GO:0050873;brown fat cell differentiation;IEA|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IDA GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004935;adrenergic receptor activity;IEA|GO:0004939;beta-adrenergic receptor activity;TAS|GO:0004940;beta1-adrenergic receptor activity;TAS|GO:0005057;signal transducer activity, downstream of receptor;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;IPI|GO:0031694;alpha-2A adrenergic receptor binding;IPI|GO:0046982;protein heterodimerization activity;IPI|GO:0051379;epinephrine binding;IBA|GO:0051380;norepinephrine binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ADRB1 https://www.uniprot.org/uniprot/P08588 https://www.ncbi.nlm.nih.gov/omim/?term=109630 http://www.informatics.jax.org/searchtool/Search.do?query=ADRB1&submit=Quick%0D%848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADRB1 rs1801252 0.177716 0.1367 0.3040 0.08 1 13 exonic exonic exonic ADRB1 ADRB1 ENSG00000043591 nonsynonymous SNV nonsynonymous SNV unknown ADRB1:NM_000684:exon1:c.A145G:p.S49G, ADRB1:uc001lba.3:exon1:c.A145G:p.S49G, UNKNOWN Het;A>G 613;16|25 Hom;A>G 870;0|29 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 116085784 116085784 C CCCG indel nonframeshift substitution 331_331delinsCGGG AFAP1L2 Afap1l2 ENSG00000169129 actin filament associated protein 1 like 2 chr10:116054583-116164515 Alzheimer's disease ; Cognitive performance ; Hip; Alcoholism GO:0006954;inflammatory response;IDA|GO:0007346;regulation of mitotic cell cycle;IDA|GO:0009966;regulation of signal transduction;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0032675;regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA GO:0017124;SH3 domain binding;IPI|GO:0030296;protein tyrosine kinase activator activity;IDA|GO:0035591;signaling adaptor activity;IEA|GO:0042169;SH2 domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AFAP1L2 https://www.ncbi.nlm.nih.gov/omim/?term=612420 http://www.informatics.jax.org/searchtool/Search.do?query=AFAP1L2&submit=Quick%0D%12422ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFAP1L2 rs60778514 0 0 0.6030 1 0 0 exonic exonic exonic AFAP1L2 AFAP1L2 ENSG00000169129 nonframeshift substitution nonframeshift substitution unknown AFAP1L2:NM_001287824:exon5:c.331_331delinsCGGG, AFAP1L2:uc010qse.2:exon5:c.331_331delinsCGGG, UNKNOWN Het;+CCG 1658;37|45 Hom;+CCG 3058;2|74 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 116719543 116719543 G A snp nonsynonymous SNV G500A R167K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) TRUB1 Trub1 ENSG00000165832 TruB pseudouridine synthase family member 1 chr10:116697952-116737430 Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008] Alzheimer's disease GO:0001522;pseudouridine synthesis;IEA|GO:0006396;RNA processing;IEA|GO:0006400;tRNA modification;IBA|GO:0008033;tRNA processing;IEA|GO:0009451;RNA modification;IEA|GO:1990481;mRNA pseudouridine synthesis;IBA GO:0003723;RNA binding;IEA|GO:0009982;pseudouridine synthase activity;IBA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRUB1 https://www.ncbi.nlm.nih.gov/omim/?term=610726 http://www.informatics.jax.org/searchtool/Search.do?query=TRUB1&submit=Quick%0D%11638ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRUB1 rs7099565 0.422724 0.5550 0.4248 0.15 2 13 exonic exonic exonic TRUB1 TRUB1 ENSG00000165832 nonsynonymous SNV nonsynonymous SNV unknown TRUB1:NM_139169:exon4:c.G500A:p.R167K, TRUB1:uc010qsl.2:exon4:c.G206A:p.R69K,TRUB1:uc001lcd.3:exon4:c.G500A:p.R167K, UNKNOWN Het;G>A 775;52|43 Hom;G>A 2319;0|87 N N - 10 124457452 124457452 C T snp nonsynonymous SNV G805A A269T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral C10orf120 4933402N03Rik ENSG00000183559 chromosome 10 open reading frame 120 chr10:124457225-124459338 GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA http://www.genecards.org/index.php?path=/Search/keyword/C10orf120 http://www.informatics.jax.org/searchtool/Search.do?query=C10orf120&submit=Quick%0D%15009ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf120 rs2947594 0.807708 0.7861 0.7823 0.08 1 13 exonic exonic exonic C10orf120 C10orf120 ENSG00000183559 nonsynonymous SNV nonsynonymous SNV unknown C10orf120:NM_001010912:exon3:c.G805A:p.A269T, C10orf120:uc001lgn.3:exon3:c.G805A:p.A269T, UNKNOWN Het;C>T 1799;94|88 Hom;C>T 4326;0|165 N N - 10 127265374 127265374 T C snp nonsynonymous SNV A334G T112A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral TEX36 Tex36 ENSG00000175018 testis expressed 36 chr10:127265091-127371713 Cholesterol; Tobacco Use Disorder; Arteries http://www.genecards.org/index.php?path=/Search/keyword/TEX36 http://www.informatics.jax.org/searchtool/Search.do?query=TEX36&submit=Quick%0D%13621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEX36 rs11244568 0.278954 0 0.2884 0.09 1 11 ncRNA_intronic exonic exonic TEX36-AS1 TEX36 ENSG00000175018 Na nonsynonymous SNV unknown Na TEX36:uc001lij.3:exon4:c.A334G:p.T112A, UNKNOWN Het;T>C 2074;89|103 Hom;T>C 5401;3|204 N N - 10 127677374 127677374 A G snp nonsynonymous SNV A428G N143S polar,hydrophilic,neutral polar,hydrophilic,neutral FANK1 Fank1 ENSG00000203780 fibronectin type III and ankyrin repeat domains 1 chr10:127585108-127698161 Given the highly restricted expression of FANK1, it may have a role in regulating gene expression in the transition from the meiotic phase to the haploid phase during spermatogenesis. Asthma|Hypersensitivity; Celiac Disease|; Coronary Artery Disease; Bipolar Disorder; Tobacco Use Disorder; Waist Circumference Mice homozygous for a knock-out allele are viable and fertile; males show normal spermatogenesis with no detectable alterations in sperm morphology, count and motility or number of apoptotic cells in testes. GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/FANK1 https://www.uniprot.org/uniprot/Q8TC84 https://www.ncbi.nlm.nih.gov/omim/?term=611640 http://www.informatics.jax.org/searchtool/Search.do?query=FANK1&submit=Quick%0D%250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANK1 rs2280173 0.330072 0 0.4425 1 0 0 intronic exonic exonic FANK1 FANK1 ENSG00000203780 Na nonsynonymous SNV unknown Na FANK1:uc010quk.1:exon4:c.A428G:p.N143S, UNKNOWN Het;A>G 193;2|7 Hom;A>G 128;0|4 N N - 10 135082346 135082346 A G snp nonsynonymous SNV T1774C F592L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ADAM8 Adam8 ENSG00000151651 ADAM metallopeptidase domain 8 chr10:135075907-135090372 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009] Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment. Neutrophil degranulation GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ADAM8 https://www.uniprot.org/uniprot/P78325 https://www.ncbi.nlm.nih.gov/omim/?term=602267 http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8 rs2275720 0.824281 0.801 0.8605 0.14 1 7 exonic exonic exonic ADAM8 ADAM8 ENSG00000151651 nonsynonymous SNV nonsynonymous SNV unknown ADAM8:NM_001164490:exon17:c.T1774C:p.F592L,ADAM8:NM_001109:exon19:c.T1969C:p.F657L, ADAM8:uc021qbe.1:exon19:c.T1969C:p.F657L,ADAM8:uc010qva.2:exon17:c.T1774C:p.F592L, UNKNOWN Het;A>G 1551;105|79 Hom;A>G 4396;0|165 N N - 10 135089035 135089035 A G snp nonsynonymous SNV T103C W35R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) ADAM8 Adam8 ENSG00000151651 ADAM metallopeptidase domain 8 chr10:135075907-135090372 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009] Alzheimer's disease ; ovarian cancer; atherosclerosis; Asthma|Hypersensitivity Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment. Neutrophil degranulation GO:0000902;cell morphogenesis;IEA|GO:0001525;angiogenesis;IEA|GO:0002523;leukocyte migration involved in inflammatory response;IEA|GO:0002675;positive regulation of acute inflammatory response;IEA|GO:0002693;positive regulation of cellular extravasation;IEA|GO:0006508;proteolysis;IEA|GO:0006954;inflammatory response;IDA|GO:0010954;positive regulation of protein processing;NAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022407;regulation of cell-cell adhesion;IDA|GO:0022617;extracellular matrix disassembly;TAS|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0035419;activation of MAPK activity involved in innate immune response;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045780;positive regulation of bone resorption;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048247;lymphocyte chemotaxis;IEA|GO:0050714;positive regulation of protein secretion;IC|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051897;positive regulation of protein kinase B signaling;IEA|GO:0070245;positive regulation of thymocyte apoptotic process;IEA|GO:0071456;cellular response to hypoxia;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IEA|GO:2000391;positive regulation of neutrophil extravasation;IDA|GO:2000406;positive regulation of T cell migration;IEA|GO:2000415;positive regulation of fibronectin-dependent thymocyte migration;IEA|GO:2000418;positive regulation of eosinophil migration;IEA GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032010;phagolysosome;IDA|GO:0032127;dense core granule membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0042581;specific granule;IDA|GO:0070820;tertiary granule;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0071065;alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex;IDA|GO:0071133;alpha9-beta1 integrin-ADAM8 complex;IEA|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0043621;protein self-association;TAS|GO:0046872;metal ion binding;IEA|GO:0050839;cell adhesion molecule binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ADAM8 https://www.uniprot.org/uniprot/P78325 https://www.ncbi.nlm.nih.gov/omim/?term=602267 http://www.informatics.jax.org/searchtool/Search.do?query=ADAM8&submit=Quick%0D%9449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM8 rs2275725 0.903155 0.9092 0.9016 0.14 1 7 exonic exonic exonic ADAM8 ADAM8 ENSG00000151651 nonsynonymous SNV nonsynonymous SNV unknown ADAM8:NM_001164489:exon2:c.T103C:p.W35R,ADAM8:NM_001109:exon2:c.T103C:p.W35R, ADAM8:uc010qvb.1:exon2:c.T28C:p.W10R,ADAM8:uc009ybi.3:exon2:c.T103C:p.W35R,ADAM8:uc021qbe.1:exon2:c.T103C:p.W35R, UNKNOWN Het;A>G 739;48|38 Hom;A>G 2430;0|94 N N - 10 135098830 135098830 T C snp nonsynonymous SNV A1852G R618G polar,hydrophilic,charged(+) aliphatic,neutral TUBGCP2 Tubgcp2 ENSG00000130640 tubulin gamma complex associated protein 2 chr10:135093135-135125841 Recruitment of NuMA to mitotic centrosomes GO:0000226;microtubule cytoskeleton organization;IEA|GO:0006461;protein complex assembly;TAS|GO:0007020;microtubule nucleation;TAS|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;TAS|GO:0008275;gamma-tubulin small complex;IBA|GO:0016020;membrane;IDA GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP2 https://www.uniprot.org/uniprot/Q9BSJ2 http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP2&submit=Quick%0D%6403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP2 rs3008335 0.897564 0 0.9006 1 0 0 intronic exonic intronic TUBGCP2 TUBGCP2 ENSG00000130640 Na nonsynonymous SNV Na Na TUBGCP2:uc009ybk.2:exon12:c.A1852G:p.R618G, Na Het;T>C 89;6|4 Hom;T>C 410;0|12 N N - 10 14884509 14884509 G A snp nonsynonymous SNV G226A A76T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral HSPA14 Hspa14 ENSG00000187522 heat shock protein family A (Hsp70) member 14 chr10:14880163-14913740 Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Infection|Inflammation|Premature Birth; lung cancer; Alzheimer's disease ; Inflammation|Premature Birth Regulation of HSF1-mediated heat shock response GO:0051083;'de novo' cotranslational protein folding;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005840;ribosome;IDA|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HSPA14 https://www.ncbi.nlm.nih.gov/omim/?term=610369 http://www.informatics.jax.org/searchtool/Search.do?query=HSPA14&submit=Quick%0D%15833ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPA14 rs12770830 0.0445288 0 0.0800 1 0 0 intronic exonic intronic HSPA14 HSPA14 ENSG00000187522 Na nonsynonymous SNV Na Na HSPA14:uc001ind.4:exon4:c.G226A:p.A76T, Na Het;G>A 1506;89|72 Hom;G>A 3906;3|144 N N - 10 14974905 14974905 T C snp nonsynonymous SNV A368G H123R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) DCLRE1C Dclre1c ENSG00000152457 DNA cross-link repair 1C chr10:14939358-14996431 This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Lymphopenia|SCID|Severe Combined Immunodeficiency; Immunologic Deficiency Syndromes|Severe Combined Immunodeficiency; Leukemia, Lymphocytic, Chronic, B-Cell; multiple sclerosis; Brain Neoplasms|Glioma; breast cancer Homozygous mutant mice exhibit a combined immunodeficiency phenotype. While immunoglobulin rearrangement is completely blocked in B cells, the block of V(D)J rearrangement in T cells is partial. Nonhomologous End-Joining (NHEJ) GO:0000723;telomere maintenance;IEA|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0030183;B cell differentiation;IEA|GO:0031848;protection from non-homologous end joining at telomere;IBA|GO:0033151;V(D)J recombination;IEA|GO:0036297;interstrand cross-link repair;IBA|GO:0051276;chromosome organization;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0000784;nuclear chromosome, telomeric region;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005794;Golgi apparatus;IDA|GO:0070419;nonhomologous end joining complex;IDA GO:0000014;single-stranded DNA endodeoxyribonuclease activity;IDA|GO:0003684;damaged DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;TAS|GO:0004527;exonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0008409;5'-3' exonuclease activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0035312;5'-3' exodeoxyribonuclease activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/DCLRE1C https://www.uniprot.org/uniprot/Q96SD1 https://hpo.jax.org/app/browse/search?q=DCLRE1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605988 http://www.informatics.jax.org/searchtool/Search.do?query=DCLRE1C&submit=Quick%0D%9551ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCLRE1C rs12768894 0.123003 0.1426 0.1560 0.46 6 13 exonic exonic exonic DCLRE1C DCLRE1C ENSG00000152457 nonsynonymous SNV nonsynonymous SNV unknown DCLRE1C:NM_001033858:exon11:c.A368G:p.H123R,DCLRE1C:NM_022487:exon8:c.A383G:p.H128R,DCLRE1C:NM_001289078:exon7:c.A383G:p.H128R,DCLRE1C:NM_001289076:exon7:c.A383G:p.H128R,DCLRE1C:NM_001289077:exon10:c.A368G:p.H123R,DCLRE1C:NM_001289079:exon11:c.A368G:p.H123R,DCLRE1C:NM_001033855:exon9:c.A728G:p.H243R,DCLRE1C:NM_001033857:exon10:c.A368G:p.H123R, DCLRE1C:uc001inn.3:exon9:c.A728G:p.H243R,DCLRE1C:uc001inq.3:exon11:c.A368G:p.H123R,DCLRE1C:uc010qbx.2:exon9:c.A728G:p.H243R,DCLRE1C:uc001inr.3:exon7:c.A383G:p.H128R,DCLRE1C:uc001inl.3:exon10:c.A368G:p.H123R,DCLRE1C:uc009xji.3:exon7:c.A383G:p.H128R,DCLRE1C:uc001inm.3:exon11:c.A368G:p.H123R,DCLRE1C:uc021pni.1:exon5:c.A383G:p.H128R,DCLRE1C:uc001ino.3:exon8:c.A383G:p.H128R,DCLRE1C:uc001inp.3:exon10:c.A368G:p.H123R, UNKNOWN Het;T>C 1505;109|80 Hom;T>C 5720;2|213 N N - 10 15008493 15008493 A C snp nonsynonymous SNV A26C K9T polar,hydrophilic,charged(+) polar,hydrophilic,neutral MEIG1 Meig1 ENSG00000197889 meiosis/spermiogenesis associated 1 chr10:15001438-15030049 Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads. GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IBA http://www.genecards.org/index.php?path=/Search/keyword/MEIG1 https://www.ncbi.nlm.nih.gov/omim/?term=614174 http://www.informatics.jax.org/searchtool/Search.do?query=MEIG1&submit=Quick%0D%16744ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIG1 rs4750568 0.611222 0.6532 0.6597 0.67 8 12 exonic exonic exonic MEIG1 MEIG1 ENSG00000197889 nonsynonymous SNV nonsynonymous SNV unknown MEIG1:NM_001080836:exon2:c.A26C:p.K9T, MEIG1:uc009xjk.1:exon2:c.A26C:p.K9T, UNKNOWN Het;A>C 651;41|30 Hom;A>C 3029;0|112 N N - 10 16870912 16870912 G T snp nonsynonymous SNV C10656A N3552K polar,hydrophilic,neutral polar,hydrophilic,charged(+) CUBN Cubn rs1801232 0.0822684 0.0557 0.0885 0.31 4 13 exonic exonic exonic CUBN CUBN ENSG00000107611 nonsynonymous SNV nonsynonymous SNV unknown CUBN:NM_001081:exon66:c.C10656A:p.N3552K, CUBN:uc001ioo.3:exon66:c.C10656A:p.N3552K, UNKNOWN Het;G>T 1268;52|58 Hom;G>T 2201;0|82 N N - 10 17147521 17147521 G T snp nonsynonymous SNV C1165A P389T hydrophobic,neutral polar,hydrophilic,neutral CUBN Cubn rs1801224 0.534345 0.5876 0.6138 0.38 5 13 exonic exonic exonic CUBN CUBN ENSG00000107611 nonsynonymous SNV nonsynonymous SNV unknown CUBN:NM_001081:exon11:c.C1165A:p.P389T, CUBN:uc001ioo.3:exon11:c.C1165A:p.P389T, UNKNOWN Het;G>T 1616;104|85 Hom;G>T 4730;2|178 N N - 10 19678497 19678497 G A snp nonsynonymous SNV G4804A V1602I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MALRD1 Malrd1 ENSG00000204740 MAM and LDL receptor class A domain containing 1 chr10:19492779-20079330 Diabetes Mellitus; Albuminuria; Tobacco Use Disorder; Hypertension; Memory; Mental Competency; Heart Failure; Spondylitis, Ankylosing; Hemoglobin A, Glycosylated; Alzheimer's disease GO:0042632;cholesterol homeostasis;IEA|GO:0070858;negative regulation of bile acid biosynthetic process;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/MALRD1 http://www.informatics.jax.org/searchtool/Search.do?query=MALRD1&submit=Quick%0D%17395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MALRD1 rs10763975 0.839257 0 0.8187 0.11 1 9 exonic intergenic exonic MALRD1 DQ600701(dist=429789),C10orf112(dist=99526) ENSG00000204740 nonsynonymous SNV Na unknown MALRD1:NM_001142308:exon28:c.G4804A:p.V1602I, Na UNKNOWN Het;G>A 1023;57|52 Hom;G>A 2475;0|94 N N - 10 5415954 5415954 A G snp nonsynonymous SNV A271G R91G polar,hydrophilic,charged(+) aliphatic,neutral UCN3 Ucn3 ENSG00000178473 urocortin 3 chr10:5406972-5416169 This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family of proteins. The encoded preproprotein is proteolytically processed to generate the mature peptide hormone, which is secreted by pancreatic beta and alpha cells. This hormone is an endogenous ligand for corticotropin-releasing factor receptor 2 and may regulate insulin secretion in response to plasma glucose levels. Patients with type 2 diabetes exhibit reduced levels of the encoded protein in beta cells. In the brain, the encoded protein may be responsible for the effects of stress on appetite. [provided by RefSeq, May 2016] bronchodilator response; depression; Hypertension Mice homozygous for one null allele are protected from the hyperinsulinemia, hyperglycemia, glucose intolerance, hepatic steatosis and hypertriglyceridemia induced by a high-fat diet, and show better glucose tolerance as they age. Mice homozygous for another null allele show improved social memory. Class B/2 (Secretin family receptors) GO:0006950;response to stress;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007586;digestion;IEA|GO:0009749;response to glucose;IEA|GO:0031669;cellular response to nutrient levels;IEA|GO:0032024;positive regulation of insulin secretion;IEA|GO:0035902;response to immobilization stress;IEA|GO:0042594;response to starvation;IEA|GO:0045838;positive regulation of membrane potential;IEA|GO:0051412;response to corticosterone;IEA|GO:0071456;cellular response to hypoxia;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0030424;axon;IEA|GO:0043005;neuron projection;IEA|GO:0043196;varicosity;IEA|GO:0043679;axon terminus;IEA GO:0001664;G-protein coupled receptor binding;IBA|GO:0005179;hormone activity;IEA|GO:0051431;corticotropin-releasing hormone receptor 2 binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UCN3 https://www.ncbi.nlm.nih.gov/omim/?term=605901 http://www.informatics.jax.org/searchtool/Search.do?query=UCN3&submit=Quick%0D%14191ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UCN3 rs10904481 0.445887 0.3102 0.3756 0.08 1 13 exonic exonic exonic UCN3 UCN3 ENSG00000178473 nonsynonymous SNV nonsynonymous SNV unknown UCN3:NM_053049:exon2:c.A271G:p.R91G, UCN3:uc001ihx.1:exon2:c.A271G:p.R91G, UNKNOWN Het;A>G 1932;94|87 Hom;A>G 5354;4|194 N N - 10 58118630 58118630 T C snp nonsynonymous SNV A559G R187G polar,hydrophilic,charged(+) aliphatic,neutral ZWINT Zwint ENSG00000122952 ZW10 interacting kinetochore protein chr10:58116989-58121036 This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Bone Density; Erythrocyte Count; Blood Pressure Determination; Alzheimer's disease; Neuropsychological Tests; Respiratory Function Tests; Lipoproteins, VLDL; Parkinson Disease; Body Weight; breast cancer ; Hip Mice homozygous for a knock-out allele exhibit complete embryonic lethality between implantation and somite formation with inner cell mass and epiblast cells forming smaller outgrowth colonies. Mitotic Prometaphase GO:0000070;mitotic sister chromatid segregation;IDA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007093;mitotic cell cycle checkpoint;IDA|GO:0051301;cell division;IEA|GO:0051649;establishment of localization in cell;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0030425;dendrite;IEA|GO:0043005;neuron projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ZWINT https://www.uniprot.org/uniprot/O95229 https://www.ncbi.nlm.nih.gov/omim/?term=609177 http://www.informatics.jax.org/searchtool/Search.do?query=ZWINT&submit=Quick%0D%5470ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZWINT rs2241666 0.761981 0.6725 0.6805 0.08 1 13 exonic exonic exonic ZWINT ZWINT ENSG00000122952 nonsynonymous SNV nonsynonymous SNV unknown ZWINT:NM_007057:exon6:c.A559G:p.R187G,ZWINT:NM_032997:exon6:c.A559G:p.R187G, ZWINT:uc009xoy.2:exon5:c.A199G:p.R67G,ZWINT:uc001jka.1:exon6:c.A559G:p.R187G,ZWINT:uc031pvd.1:exon4:c.A199G:p.R67G,ZWINT:uc001jjx.1:exon6:c.A559G:p.R187G, UNKNOWN Het;T>C 672;44|36 Hom;T>C 2779;0|102 N N - 10 5920121 5920121 T C snp nonsynonymous SNV A1058G Q353R polar,hydrophilic,neutral polar,hydrophilic,charged(+) ANKRD16 Ankrd16 ENSG00000134461 ankyrin repeat domain 16 chr10:5903580-5931869 Mice homozygous for a knock-out allele exhibit no obvious pathologies. The variant from CAST/Ei or CASA/RkJ suppresses the Aarssti phenotype. http://www.genecards.org/index.php?path=/Search/keyword/ANKRD16 https://www.uniprot.org/uniprot/Q6P6B7 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD16&submit=Quick%0D%6983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD16 rs1052420 0.803914 0.8215 0.8524 0.23 3 13 exonic exonic exonic ANKRD16 ANKRD16 ENSG00000134461 nonsynonymous SNV nonsynonymous SNV unknown ANKRD16:NM_019046:exon7:c.A1058G:p.Q353R,ANKRD16:NM_001009941:exon7:c.A1058G:p.Q353R, ANKRD16:uc010qat.2:exon7:c.A1058G:p.Q353R,ANKRD16:uc009xif.3:exon7:c.A1058G:p.Q353R, UNKNOWN Het;T>C 433;44|23 Hom;T>C 1760;0|61 N N - 10 6002368 6002368 T G snp nonsynonymous SNV A545C N182T polar,hydrophilic,neutral polar,hydrophilic,neutral IL15RA Il15ra ENSG00000134470 interleukin 15 receptor subunit alpha chr10:5990855-6020150 This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010] Alzheimer's disease ; Lymphoma, Large B-Cell, Diffuse; Chronic renal failure|Kidney Failure, Chronic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; chronic obstructive pulmonary disease; Inflammation; metabolic syndrome; lung cancer ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; esophageal adenocarcinoma; lung cancer; body mass; Celiac Disease|; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; respiratory syncytial virus bronchiolitis; Hyperparathyroidism, Secondary; bladder cancer; Body Weight|Obesity|Syndrome Mutation of this gene results in absence of NK cell production in spleen and bone marrow. Interleukin-15 signaling GO:0007165;signal transduction;TAS|GO:0007259;JAK-STAT cascade;IEA|GO:0008283;cell proliferation;TAS|GO:0010977;negative regulation of neuron projection development;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032825;positive regulation of natural killer cell differentiation;IEA GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031965;nuclear membrane;IEA GO:0004871;signal transducer activity;TAS|GO:0004896;cytokine receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IL15RA https://www.uniprot.org/uniprot/Q13261 https://www.ncbi.nlm.nih.gov/omim/?term=601070 http://www.informatics.jax.org/searchtool/Search.do?query=IL15RA&submit=Quick%0D%6985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL15RA rs2228059 0.550519 0.5666 0.5122 0.08 1 13 exonic exonic exonic IL15RA IL15RA ENSG00000134470 nonsynonymous SNV nonsynonymous SNV unknown IL15RA:NM_002189:exon4:c.A545C:p.N182T,IL15RA:NM_172200:exon3:c.A446C:p.N149T,IL15RA:NM_001243539:exon4:c.A437C:p.N146T,IL15RA:NM_001256765:exon5:c.A803C:p.N268T, IL15RA:uc021pmp.1:exon2:c.A356C:p.N119T,IL15RA:uc001iiy.3:exon2:c.A89C:p.N30T,IL15RA:uc001iiv.3:exon4:c.A545C:p.N182T,IL15RA:uc001iiw.3:exon4:c.A437C:p.N146T,IL15RA:uc021pmo.1:exon5:c.A803C:p.N268T,IL15RA:uc010qau.2:exon3:c.A446C:p.N149T, UNKNOWN Het;T>G 2115;64|97 Hom;T>G 2849;0|99 N N - 10 61414011 61414011 G T snp nonsynonymous SNV C773A T258K polar,hydrophilic,neutral polar,hydrophilic,charged(+) SLC16A9 Slc16a9 ENSG00000165449 solute carrier family 16 member 9 chr10:61410523-61495760 uric acid concentrations; Diabetes Mellitus; Hemoglobins; Gout; gout; Alzheimer's disease ; Erythrocyte Count; Metabolism; normal variation; Arteries; serum uric acid; Uric Acid GO:0006810;transport;IEA|GO:0046415;urate metabolic process;IMP|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC16A9 https://www.ncbi.nlm.nih.gov/omim/?term=614242 http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A9&submit=Quick%0D%11539ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A9 rs2242206 0.345048 0.2078 0.3348 0.08 1 13 exonic exonic exonic SLC16A9 SLC16A9 ENSG00000165449 nonsynonymous SNV nonsynonymous SNV unknown SLC16A9:NM_194298:exon5:c.C773A:p.T258K, SLC16A9:uc010qig.1:exon5:c.C773A:p.T258K, UNKNOWN Het;G>T 2086;158|112 Hom;G>T 7147;3|273 N N - 10 71060610 71060610 A G snp nonsynonymous SNV A20G H7R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) HK1 Hk1 ENSG00000156515 hexokinase 1 chr10:71029740-71161638 Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016] ADHD; Diabetes Mellitus, Type 2; Alzheimer's disease ; Hematocrit; glycated hemoglobin levels; Hemoglobin A, Glycosylated; Acquired Immunodeficiency Syndrome|Disease Progression; hematocrit; Erythrocyte Indices; Diabetes Mellitus, Type 2|Obesity; Tobacco Use Disorder; hemoglobin Homozygous mutant mice exhibit hemolytic anemia with extensive tissue iron deposition and reticulocytosis and female infertility. Glycolysis GO:0001678;cellular glucose homeostasis;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006096;glycolytic process;IEA|GO:0008152;metabolic process;IEA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP GO:0005623;cell;IEA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0045121;membrane raft;IEA|GO:0097228;sperm principal piece;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/HK1 https://www.uniprot.org/uniprot/P19367 https://hpo.jax.org/app/browse/search?q=HK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=142600 http://www.informatics.jax.org/searchtool/Search.do?query=HK1&submit=Quick%0D%9995ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HK1 rs906220 0.90635 0.8972 0.9102 0.08 1 12 exonic exonic exonic HK1 HK1 ENSG00000156515 nonsynonymous SNV nonsynonymous SNV unknown HK1:NM_033500:exon5:c.A20G:p.H7R, HK1:uc001jpg.4:exon5:c.A20G:p.H7R, UNKNOWN Het;A>G 487;41|24 Hom;A>G 3171;0|74 N N - 10 71880858 71880858 A G snp nonsynonymous SNV T404C M135T hydrophobic,neutral polar,hydrophilic,neutral AIFM2 Aifm2 ENSG00000042286 apoptosis inducing factor, mitochondria associated 2 chr10:71857979-71892690 This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010] ovarian cancer ; Acquired Immunodeficiency Syndrome|Disease Progression Homozygous null mice display reduced sensitivity to genotoxin induced cellular growth inhibition but have no change in spontaneous or induced tumor incidence. TP53 Regulates Transcription of Genes Involved in Cytochrome C Release GO:0006915;apoptotic process;IEA|GO:0008637;apoptotic mitochondrial changes;IDA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003677;DNA binding;IDA|GO:0004174;electron-transferring-flavoprotein dehydrogenase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AIFM2 https://www.uniprot.org/uniprot/Q9BRQ8 https://www.ncbi.nlm.nih.gov/omim/?term=605159 http://www.informatics.jax.org/searchtool/Search.do?query=AIFM2&submit=Quick%0D%832ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AIFM2 rs10999147 0.0928514 0.0666 0.0887 0.46 6 13 exonic exonic exonic AIFM2 AIFM2 ENSG00000042286 nonsynonymous SNV nonsynonymous SNV unknown AIFM2:NM_001198696:exon4:c.T404C:p.M135T,AIFM2:NM_032797:exon4:c.T404C:p.M135T, AIFM2:uc010qjg.2:exon3:c.T404C:p.M135T,AIFM2:uc021psi.1:exon4:c.T404C:p.M135T,AIFM2:uc001jqp.2:exon4:c.T404C:p.M135T, UNKNOWN Het;A>G 729;41|35 Hom;A>G 1128;4|49 N N - 10 72535007 72535007 C T snp nonsynonymous SNV G710A R237Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral TBATA Tbata ENSG00000166220 thymus, brain and testes associated chr10:72530995-72545157 This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Alzheimer's disease ; multiple sclerosis Mice homozygous for a knock-out allele exhibit increased thymic pithelial cells and total thymocyte numbers without altering T cell development and function. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA http://www.genecards.org/index.php?path=/Search/keyword/TBATA https://www.ncbi.nlm.nih.gov/omim/?term=612640 http://www.informatics.jax.org/searchtool/Search.do?query=TBATA&submit=Quick%0D%11731ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBATA rs2254174 0.771565 0.8635 0.8245 0.15 2 13 exonic exonic exonic TBATA TBATA ENSG00000166220 nonsynonymous SNV nonsynonymous SNV unknown TBATA:NM_152710:exon8:c.G710A:p.R237Q, TBATA:uc010qjn.1:exon8:c.G707A:p.R236Q,TBATA:uc001jrj.1:exon8:c.G710A:p.R237Q,TBATA:uc010qjm.1:exon8:c.G713A:p.R238Q, UNKNOWN Het;C>T 1121;80|57 Hom;C>T 2303;2|94 N N - 10 8006798 8006798 A G snp nonsynonymous SNV A1325G N442S polar,hydrophilic,neutral polar,hydrophilic,neutral TAF3 Taf3 ENSG00000165632 TATA-box binding protein associated factor 3 chr10:7860467-8058590 The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009] Celiac Disease|; Coronary Disease|Coronary heart disease|Myocardial Infarction; Disease; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke RNA Polymerase II Transcription Initiation And Promoter Clearance GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051457;maintenance of protein location in nucleus;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0031965;nuclear membrane;IDA GO:0002039;p53 binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TAF3 https://www.ncbi.nlm.nih.gov/omim/?term=606576 http://www.informatics.jax.org/searchtool/Search.do?query=TAF3&submit=Quick%0D%11585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF3 rs4747647 0.542133 0.5292 0.6047 0.08 1 13 exonic exonic exonic TAF3 TAF3 ENSG00000165632 nonsynonymous SNV nonsynonymous SNV unknown TAF3:NM_031923:exon3:c.A1325G:p.N442S, TAF3:uc010qbd.3:exon3:c.A1325G:p.N442S, UNKNOWN Het;A>G 1374;105|70 Hom;A>G 4216;0|143 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 81053475 81053475 G A snp nonsynonymous SNV G941A R314H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) ZMIZ1 Zmiz1 ENSG00000108175 zinc finger MIZ-type containing 1 chr10:80828792-81076276 This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010] Triglycerides; Vitiligo; Bipolar Disorder; Crohn Disease; Celiac Disease; multiple sclerosis; Multiple Sclerosis; Breath Tests; Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Tobacco Use Disorder; Lipids; Alzheimer's disease ; diabetes, type 1 ; inflammatory bowel disease (early onset); Celiac disease; Attention Deficit Disorder with Hyperactivity; diabetes, type 2; Body Weight Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development. GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007296;vitellogenesis;IEA|GO:0007569;cell aging;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048589;developmental growth;IEA|GO:0048844;artery morphogenesis;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZMIZ1 https://www.uniprot.org/uniprot/Q9ULJ6 https://www.ncbi.nlm.nih.gov/omim/?term=607159 http://www.informatics.jax.org/searchtool/Search.do?query=ZMIZ1&submit=Quick%0D%3682ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMIZ1 rs1250560 0.474641 0 0.4346 1 0 0 intronic exonic intronic ZMIZ1 ZMIZ1 ENSG00000108175 Na nonsynonymous SNV Na Na ZMIZ1:uc001kah.1:exon5:c.G941A:p.R314H, Na Het;G>A 599;18|28 Hom;G>A 1245;0|47 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 81319214 81319214 G T snp nonsynonymous SNV C26A T9N polar,hydrophilic,neutral polar,hydrophilic,neutral SFTPA2 ENSG00000185303 surfactant protein A2 chr10:81315608-81320153 This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009] Spondylarthritis; Alzheimer's disease ; COPD | Chronic obstructive Pulmonary Disease; Urinary tract infection|Urinary Tract Infections; Sudden Infant Death; Lung Diseases|Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn Homozygotes for targeted null mutations exhibit impaired lung response to hyperventilation, reduced resistance to pulmonary infections, and enhanced pulmonary inflammatory response to lipopolysaccharide. Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) GO:0002224;toll-like receptor signaling pathway;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0044267;cellular protein metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0042599;lamellar body;TAS|GO:0045334;clathrin-coated endocytic vesicle;TAS GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SFTPA2 https://hpo.jax.org/app/browse/search?q=SFTPA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=178642 http://www.informatics.jax.org/searchtool/Search.do?query=SFTPA2&submit=Quick%0D%15390ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SFTPA2 rs1059046 0.448482 0 0.3695 0.17 2 12 exonic exonic exonic SFTPA2 SFTPA2 ENSG00000185303 nonsynonymous SNV nonsynonymous SNV unknown SFTPA2:NM_001098668:exon3:c.C26A:p.T9N, SFTPA2:uc001kal.4:exon3:c.C26A:p.T9N,SFTPA2:uc001kan.4:exon2:c.C26A:p.T9N, UNKNOWN Het;G>T 588;78|29 Hom;G>T 1375;0|46 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 84744926 84744926 C A snp nonsynonymous SNV C1065A N355K polar,hydrophilic,neutral polar,hydrophilic,charged(+) NRG3 Nrg3 ENSG00000185737 neuregulin 3 chr10:83635070-84746935 This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009] Echocardiography; Heart Failure; Erythrocytes; Esophagitis; Hip; Receptors, Tumor Necrosis Factor, Type II; Hemoglobins; Asthma; Magnesium; Hemoglobin A, Glycosylated; Breath Tests; Blood Pressure; response to iloperidone treatment (QT prolongation); Chronic renal failure|Kidney Failure, Chronic; Aorta; Respiratory Function Tests; Tobacco Use Disorder; Schizophrenia; Psychiatric Disorders; Diabetic Nephropathies; Adiponectin; Cholesterol, HDL; Cholesterol, LDL; Body Weight; Cholesterol; parental expressed emotion | ADHD; Glucose; Isoxazoles; Alcoholism; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Hypertension; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Pancreatic Neoplasms; several psychiatric disorders; Erythrocyte Count; Heart Rate Mutations in this gene result in abnormal, genetic background specific, mammary gland development. Male mice homozygous for a knock-out allele show novelty-induced hyperactivity, decreased prepulse inhibition, and impaired cued conditioning behavior. Downregulation of ERBB2 signaling GO:0001558;regulation of cell growth;NAS|GO:0007171;activation of transmembrane receptor protein tyrosine kinase activity;IEA|GO:0007389;pattern specification process;IEA|GO:0021842;chemorepulsion involved in interneuron migration from the subpallium to the cortex;IEA|GO:0030879;mammary gland development;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0060596;mammary placode formation;IEA|GO:2001223;negative regulation of neuron migration;IEA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008083;growth factor activity;IEA|GO:0030297;transmembrane receptor protein tyrosine kinase activator activity;NAS|GO:0030971;receptor tyrosine kinase binding;NAS|GO:0045499;chemorepellent activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NRG3 https://www.ncbi.nlm.nih.gov/omim/?term=605533 http://www.informatics.jax.org/searchtool/Search.do?query=NRG3&submit=Quick%0D%15478ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NRG3 rs17101193 0.0952476 0.0908 0.0764 0.15 2 13 exonic exonic exonic NRG3 NRG3 ENSG00000185737 nonsynonymous SNV nonsynonymous SNV unknown NRG3:NM_001165973:exon11:c.C1065A:p.N355K,NRG3:NM_001165972:exon9:c.C1653A:p.N551K,NRG3:NM_001010848:exon9:c.C1656A:p.N552K, NRG3:uc001kcq.2:exon11:c.C606A:p.N202K,NRG3:uc021pvf.1:exon9:c.C606A:p.N202K,NRG3:uc021pvg.1:exon11:c.C1140A:p.N380K,NRG3:uc021pvl.1:exon7:c.C606A:p.N202K,NRG3:uc001kcp.2:exon11:c.C1065A:p.N355K,NRG3:uc001kco.2:exon9:c.C1656A:p.N552K,NRG3:uc001kcr.2:exon9:c.C678A:p.N226K,NRG3:uc021pvc.1:exon10:c.C1728A:p.N576K,NRG3:uc010qlz.1:exon9:c.C1653A:p.N551K,NRG3:uc021pvi.1:exon11:c.C1146A:p.N382K,NRG3:uc021pvh.1:exon12:c.C492A:p.N164K,NRG3:uc021pvd.1:exon10:c.C993A:p.N331K,NRG3:uc021pvk.1:exon10:c.C276A:p.N92K,NRG3:uc021pve.1:exon10:c.C1068A:p.N356K, UNKNOWN Het;C>A 1382;113|75 Hom;C>A 3798;2|141 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 86273605 86273605 C T snp nonsynonymous SNV C1007T P336L hydrophobic,neutral aliphatic,hydrophobic,neutral CCSER2 Ccser2 ENSG00000107771 coiled-coil serine rich protein 2 chr10:86088342-86278273 Tobacco Use Disorder; Lipids; Triglycerides; Alzheimer's disease GO:0001578;microtubule bundle formation;IEA GO:0015630;microtubule cytoskeleton;IEA GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CCSER2 https://www.uniprot.org/uniprot/Q9H7U1 http://www.informatics.jax.org/searchtool/Search.do?query=CCSER2&submit=Quick%0D%3634ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCSER2 rs117675200 0.00119808 0 0.0012 0.09 1 11 exonic exonic exonic CCSER2 CCSER2 ENSG00000107771 nonsynonymous SNV nonsynonymous SNV unknown CCSER2:NM_001284242:exon7:c.C1007T:p.P336L,CCSER2:NM_001284240:exon10:c.C2726T:p.P909L, CCSER2:uc010qmd.1:exon10:c.C2726T:p.P909L, UNKNOWN Het;C>T 1289;83|66 Hom;C>T 3164;2|112 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 90342837 90342837 C G snp nonsynonymous SNV G111C E37D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) RNLS Rnls ENSG00000184719 renalase, FAD dependent amine oxidase chr10:90033621-90344287 Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008] type 1 diabetes; Schizophrenia; Heart Rate; Alzheimer's disease ; hypertension Mice homozygous for a knock-out allele exhibit aggravated ischemic myocardial damage, increased heart rate, increased blood pressure and increased serum levels of dopamine, adrenaline and noradrenaline. Nicotinamide salvaging GO:0002931;response to ischemia;IEA|GO:0034356;NAD biosynthesis via nicotinamide riboside salvage pathway;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071869;response to catecholamine;IEA|GO:0071871;response to epinephrine;IEA|GO:1902074;response to salt;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA GO:0016491;oxidoreductase activity;IEA|GO:0016651;oxidoreductase activity, acting on NAD(P)H;TAS http://www.genecards.org/index.php?path=/Search/keyword/RNLS https://www.ncbi.nlm.nih.gov/omim/?term=609360 http://www.informatics.jax.org/searchtool/Search.do?query=RNLS&submit=Quick%0D%15263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNLS rs2296545 0.478235 0.4692 0.4600 0.08 1 13 exonic exonic exonic RNLS RNLS ENSG00000184719 nonsynonymous SNV nonsynonymous SNV unknown RNLS:NM_001031709:exon1:c.G111C:p.E37D,RNLS:NM_018363:exon1:c.G111C:p.E37D, RNLS:uc001kfd.2:exon1:c.G111C:p.E37D,RNLS:uc010qms.1:exon1:c.G111C:p.E37D,RNLS:uc001kfe.3:exon1:c.G111C:p.E37D, UNKNOWN Het;C>G 882;60|47 Hom;C>G 3349;2|132 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 91066769 91066769 C A snp nonsynonymous SNV C1056A D352E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) IFIT2 Ifit2 ENSG00000119922 interferon induced protein with tetratricopeptide repeats 2 chr10:91061712-91069033 Alzheimer's disease Mice homozygous for a knock-out allele exhibit increased susuceptibility to VSV infection with increased lethality and brain viral titer. Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006915;apoptotic process;IEA|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0009615;response to virus;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0035457;cellular response to interferon-alpha;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;TAS GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IFIT2 https://www.uniprot.org/uniprot/P09913 https://www.ncbi.nlm.nih.gov/omim/?term=147040 http://www.informatics.jax.org/searchtool/Search.do?query=IFIT2&submit=Quick%0D%5138ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFIT2 rs1727 0.878794 0.8122 0.8011 0.08 1 13 exonic exonic exonic IFIT2 IFIT2 ENSG00000119922 nonsynonymous SNV nonsynonymous SNV unknown IFIT2:NM_001547:exon2:c.C1056A:p.D352E, IFIT2:uc009xts.3:exon2:c.C1056A:p.D352E, UNKNOWN Het;C>A 394;48|21 Hom;C>A 1903;1|67 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 91222287 91222287 A C snp nonsynonymous SNV T49G W17G aromatic,hydrophobic,neutral aliphatic,neutral SLC16A12 Slc16a12 ENSG00000152779 solute carrier family 16 member 12 chr10:91190051-91316398 This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010] Cataract; Body Mass Index; Body Weight; Alzheimer's disease GO:0055085;transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC16A12 https://www.uniprot.org/uniprot/Q6ZSM3 https://hpo.jax.org/app/browse/search?q=SLC16A12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611910 http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A12&submit=Quick%0D%9591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A12 rs3740030 0.0688898 0.0637 0.0835 0.10 1 10 exonic exonic exonic SLC16A12 SLC16A12 ENSG00000152779 nonsynonymous SNV nonsynonymous SNV unknown SLC16A12:NM_213606:exon3:c.T49G:p.W17G, SLC16A12:uc001kgm.3:exon3:c.T49G:p.W17G, UNKNOWN Het;A>C 1462;109|72 Hom;A>C 3916;1|140 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 91497631 91497631 T A snp nonsynonymous SNV T3033A D1011E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs1062465 0.353834 0.3101 0.2879 0.31 4 13 exonic exonic exonic KIF20B KIF20B ENSG00000138182 nonsynonymous SNV nonsynonymous SNV unknown KIF20B:NM_001284259:exon20:c.T3033A:p.D1011E,KIF20B:NM_016195:exon20:c.T2913A:p.D971E, KIF20B:uc001kgr.1:exon20:c.T2913A:p.D971E,KIF20B:uc001kgs.1:exon20:c.T3033A:p.D1011E,KIF20B:uc001kgt.1:exon7:c.T666A:p.D222E, UNKNOWN Het;T>A 1011;83|55 Hom;T>A 3676;0|133 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 91497902 91497902 C CTAAAAG indel nonframeshift substitution 3184_3184delinsCTAAAAG KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs144593231 0.356629 0.3027 0.2866 1 0 0 exonic exonic exonic KIF20B KIF20B ENSG00000138182 nonframeshift substitution nonframeshift substitution unknown KIF20B:NM_001284259:exon20:c.3304_3304delinsCTAAAAG,KIF20B:NM_016195:exon20:c.3184_3184delinsCTAAAAG, KIF20B:uc001kgr.1:exon20:c.3184_3184delinsCTAAAAG,KIF20B:uc001kgs.1:exon20:c.3304_3304delinsCTAAAAG,KIF20B:uc001kgt.1:exon7:c.937_937delinsCTAAAAG, UNKNOWN Het;+TAAAAG 1371;45|35 Hom;+TAAAAG 2616;0|59 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 91498254 91498254 A G snp nonsynonymous SNV A3656G N1219S polar,hydrophilic,neutral polar,hydrophilic,neutral KIF20B Kif20b ENSG00000138182 kinesin family member 20B chr10:91461367-91534700 Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. Kinesins GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF20B https://www.uniprot.org/uniprot/Q96Q89 https://www.ncbi.nlm.nih.gov/omim/?term=605498 http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B rs1886997 0.357029 0.3056 0.2883 0.15 2 13 exonic exonic exonic KIF20B KIF20B ENSG00000138182 nonsynonymous SNV nonsynonymous SNV unknown KIF20B:NM_001284259:exon20:c.A3656G:p.N1219S,KIF20B:NM_016195:exon20:c.A3536G:p.N1179S, KIF20B:uc001kgr.1:exon20:c.A3536G:p.N1179S,KIF20B:uc001kgs.1:exon20:c.A3656G:p.N1219S,KIF20B:uc001kgt.1:exon7:c.A1289G:p.N430S, UNKNOWN Het;A>G 969;24|37 Hom;A>G 1787;0|61 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 94594565 94594565 G A snp nonsynonymous SNV G70A V24I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral EXOC6 Exoc6 ENSG00000138190 exocyst complex component 6 chr10:94590935-94819250 The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016] Alzheimer's disease ; Tobacco Use Disorder Homozygotes for a spontaneous mutation exhibit severe microcytic anemia, erythrocyte hyperchromia, and markedly increased levels of red cell protoporphyrin. VxPx cargo-targeting to cilium GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0015031;protein transport;IEA GO:0000145;exocyst;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EXOC6 https://www.uniprot.org/uniprot/Q8TAG9 https://www.ncbi.nlm.nih.gov/omim/?term=609672 http://www.informatics.jax.org/searchtool/Search.do?query=EXOC6&submit=Quick%0D%7695ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC6 rs2490741 0.571286 0.7142 0.6602 0.08 1 12 exonic exonic exonic EXOC6 EXOC6 ENSG00000138190 nonsynonymous SNV nonsynonymous SNV unknown EXOC6:NM_001013848:exon1:c.G70A:p.V24I, EXOC6:uc010qnr.2:exon2:c.G133A:p.V45I,EXOC6:uc001kie.3:exon1:c.G70A:p.V24I, UNKNOWN Het;G>A 1471;89|72 Hom;G>A 4124;0|160 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 95162084 95162084 A G snp nonsynonymous SNV T895C W299R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) MYOF Myof ENSG00000138119 myoferlin chr10:95066186-95242074 Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008] Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability. GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MYOF https://www.uniprot.org/uniprot/Q9NZM1 https://www.ncbi.nlm.nih.gov/omim/?term=604603 http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF rs753960311 0 0 2.485e-05 1.00 13 13 exonic exonic exonic MYOF MYOF ENSG00000138119 nonsynonymous SNV nonsynonymous SNV unknown MYOF:NM_013451:exon11:c.T895C:p.W299R,MYOF:NM_133337:exon11:c.T895C:p.W299R, MYOF:uc001kin.3:exon11:c.T895C:p.W299R,MYOF:uc001kio.3:exon11:c.T895C:p.W299R,MYOF:uc009xuf.2:exon12:c.T841C:p.W281R,MYOF:uc001kip.4:exon11:c.T895C:p.W299R, UNKNOWN Het;A>G 351;21|18 Hom;A>G 1321;0|48 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 95381773 95381773 T A snp nonsynonymous SNV T808A S270T polar,hydrophilic,neutral polar,hydrophilic,neutral PDE6C Pde6c ENSG00000095464 phosphodiesterase 6C chr10:95372345-95425767 This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010] Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease A spontaneous mutation in this gene results in abnormal cone photoreceptor function. GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE6C https://www.uniprot.org/uniprot/P51160 https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600827 http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C rs701865 0.414337 0.3913 0.3729 0.15 2 13 exonic exonic exonic PDE6C PDE6C ENSG00000095464 nonsynonymous SNV nonsynonymous SNV unknown PDE6C:NM_006204:exon4:c.T808A:p.S270T, PDE6C:uc001kiu.4:exon4:c.T808A:p.S270T, UNKNOWN Het;T>A 1482;57|71 Hom;T>A 2463;0|93 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 95454681 95454681 G C snp nonsynonymous SNV C233G T78R polar,hydrophilic,neutral polar,hydrophilic,charged(+) FRA10AC1 Fra10ac1 ENSG00000148690 FRA10A associated CGG repeat 1 chr10:95427640-95462329 The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010] Body Height; Alzheimer's disease GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1 https://www.uniprot.org/uniprot/Q70Z53 https://www.ncbi.nlm.nih.gov/omim/?term=608866 http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1 rs2275438 0.360623 0.3898 0.4728 0.15 2 13 exonic exonic exonic FRA10AC1 FRA10AC1 ENSG00000148690 nonsynonymous SNV nonsynonymous SNV unknown FRA10AC1:NM_145246:exon5:c.C233G:p.T78R, FRA10AC1:uc001kjb.1:exon4:c.C233G:p.T78R,FRA10AC1:uc009xuh.1:exon5:c.C236G:p.T79R,FRA10AC1:uc001kiz.2:exon5:c.C233G:p.T78R, UNKNOWN Het;G>C 808;41|41 Hom;G>C 1570;0|59 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 95459817 95459817 C T snp nonsynonymous SNV G47A R16H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) FRA10AC1 Fra10ac1 ENSG00000148690 FRA10A associated CGG repeat 1 chr10:95427640-95462329 The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010] Body Height; Alzheimer's disease GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1 https://www.uniprot.org/uniprot/Q70Z53 https://www.ncbi.nlm.nih.gov/omim/?term=608866 http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1 rs726817 0.622604 0.6635 0.6979 0.15 2 13 exonic exonic exonic FRA10AC1 FRA10AC1 ENSG00000148690 nonsynonymous SNV nonsynonymous SNV unknown FRA10AC1:NM_145246:exon2:c.G47A:p.R16H, FRA10AC1:uc001kjb.1:exon1:c.G47A:p.R16H,FRA10AC1:uc009xuh.1:exon2:c.G50A:p.R17H,FRA10AC1:uc001kiz.2:exon2:c.G47A:p.R16H, UNKNOWN Het;C>T 821;67|43 Hom;C>T 1937;0|78 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 95718600 95718600 T C snp nonsynonymous SNV A2554G S852G polar,hydrophilic,neutral aliphatic,neutral PIPSL rs11815169 0.25619 0 0.2498 1 0 0 ncRNA_exonic exonic ncRNA_exonic PIPSL PIPSL ENSG00000180764 Na nonsynonymous SNV Na Na PIPSL:uc009xuj.2:exon1:c.A2554G:p.S852G, Na Het;T>C 1593;68|76 Hom;T>C 3606;0|136 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 95720490 95720490 C T snp nonsynonymous SNV G664A E222K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) PIPSL rs12570608 0.156949 0 0.2141 1 0 0 ncRNA_exonic exonic ncRNA_exonic PIPSL PIPSL ENSG00000180764 Na nonsynonymous SNV Na Na PIPSL:uc009xuj.2:exon1:c.G664A:p.E222K, Na Het;C>T 1136;79|53 Hom;C>T 2980;1|109 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 95720501 95720501 T C snp nonsynonymous SNV A653G Q218R polar,hydrophilic,neutral polar,hydrophilic,charged(+) PIPSL rs12571819 0.169329 0 0.2183 1 0 0 ncRNA_exonic exonic ncRNA_exonic PIPSL PIPSL ENSG00000180764 Na nonsynonymous SNV Na Na PIPSL:uc009xuj.2:exon1:c.A653G:p.Q218R, Na Het;T>C 1213;79|57 Hom;T>C 3200;1|111 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 96104665 96104665 T G snp nonsynonymous SNV A1415C E472A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral NOC3L Noc3l ENSG00000173145 NOC3 like DNA replication regulator chr10:96075004-96122716 Alzheimer's disease ; Interleukin-6; Stroke Mice homozygous for a knock-out allele exhibit complete embryonic lethality, fail to form blastocele and arrest at the morula stage. GO:0045444;fat cell differentiation;IEA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IDA|GO:0016607;nuclear speck;IEA GO:0003682;chromatin binding;IBA|GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NOC3L https://www.ncbi.nlm.nih.gov/omim/?term=610769 http://www.informatics.jax.org/searchtool/Search.do?query=NOC3L&submit=Quick%0D%13297ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOC3L rs3758526 0.206869 0.1367 0.1610 0.69 9 13 exonic exonic exonic NOC3L NOC3L ENSG00000173145 nonsynonymous SNV nonsynonymous SNV unknown NOC3L:NM_022451:exon12:c.A1415C:p.E472A, NOC3L:uc001kjq.1:exon12:c.A1415C:p.E472A, UNKNOWN Het;T>G 334;40|19 Hom;T>G 1899;2|72 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 96114835 96114835 G A snp nonsynonymous SNV C581T P194L hydrophobic,neutral aliphatic,hydrophobic,neutral NOC3L Noc3l ENSG00000173145 NOC3 like DNA replication regulator chr10:96075004-96122716 Alzheimer's disease ; Interleukin-6; Stroke Mice homozygous for a knock-out allele exhibit complete embryonic lethality, fail to form blastocele and arrest at the morula stage. GO:0045444;fat cell differentiation;IEA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IDA|GO:0016607;nuclear speck;IEA GO:0003682;chromatin binding;IBA|GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NOC3L https://www.ncbi.nlm.nih.gov/omim/?term=610769 http://www.informatics.jax.org/searchtool/Search.do?query=NOC3L&submit=Quick%0D%13297ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOC3L rs12572897 0.20607 0.1353 0.1601 0.46 6 13 exonic exonic exonic NOC3L NOC3L ENSG00000173145 nonsynonymous SNV nonsynonymous SNV unknown NOC3L:NM_022451:exon6:c.C581T:p.P194L, NOC3L:uc001kjq.1:exon6:c.C581T:p.P194L, UNKNOWN Het;G>A 806;52|41 Hom;G>A 2321;0|84 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 96818106 96818106 T A snp nonsynonymous SNV A595T I199F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral CYP2C8 Cyp2c39 ENSG00000138115 cytochrome P450 family 2 subfamily C member 8 chr10:96796530-96829254 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] drug-related genes ; Hypercholesterolemia|LDLC levels; head and neck cancer; ibuprofen clearance; rosiglitazone pharmacokinetics; Myocardial Infarction|Stroke; ovarian cancer ; myocardial infarct; drug hypersensitivity; paclitaxel pharmacokinetics; heart disease, ischemic; anticoagulant complications; ibuprofen clearance; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; ovarian cancer; Hyperlipidemias; Tobacco Use Disorder; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; hepatotoxicity, diclofenac-induced; null; oral antidiabetic pharacokinetics; Muscular Diseases; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Coronary Artery Disease; repaglinide pharmacology; malaria; Hemoglobins; hypertension; Myocardial Infarction; Chronic renal failure|Kidney Failure, Chronic; enantiomers of ibuprofen; Epilepsy; breast cancer paclitaxel pharmacokinetics; colorectal cancer; Ductus Arteriosus, Patent|Patent ductus arteriosus|Premature Birth; Kidney Failure, Chronic; Malaria, Falciparum; breast cancer ; osteonecrosis of the jaw; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; normal variation; carbamazepine hypersensitivity; epithelial ovarian cancer ; Genitourinary Neoplasms|Urogenital Neoplasms; warfarin sensitivity; Gastrointestinal Hemorrhage; lung cancer ; Jaw Diseases|Multiple Myeloma|Osteonecrosis; visual disorder; Type 2 Diabetes| edema | rosiglitazone; Osteonecrosis; ulcer, gastric; repaglinide pharmacology; coagulation disorder; reduced plasma concentrations of repaglinide; Essential Tremor; Hematocrit; Adenoma|Colorectal Neoplasms; malaria, plasmodium falciparum; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; tenoxicam bioequivalence; Epilepsy|; Type 2 diabetes; repaglinide pharmacokinetics Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) GO:0002933;lipid hydroxylation;IDA|GO:0006082;organic acid metabolic process;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IDA|GO:0017144;drug metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0042738;exogenous drug catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070989;oxidative demethylation;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0034875;caffeine oxidase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA|GO:0101020;estrogen 16-alpha-hydroxylase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/CYP2C8 https://www.uniprot.org/uniprot/P10632 https://www.ncbi.nlm.nih.gov/omim/?term=601129 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C8&submit=Quick%0D%7678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C8 rs11572103 0.0547125 0.0554 0.0194 0.75 9 12 exonic exonic exonic CYP2C8 CYP2C8 ENSG00000138115 nonsynonymous SNV nonsynonymous SNV unknown CYP2C8:NM_001198853:exon5:c.A595T:p.I199F,CYP2C8:NM_001198855:exon6:c.A595T:p.I199F,CYP2C8:NM_001198854:exon4:c.A499T:p.I167F,CYP2C8:NM_000770:exon5:c.A805T:p.I269F, CYP2C8:uc010qoc.2:exon4:c.A499T:p.I167F,CYP2C8:uc010qob.2:exon4:c.A547T:p.I183F,CYP2C8:uc010qod.1:exon4:c.A547T:p.I183F,CYP2C8:uc021pwl.1:exon6:c.A595T:p.I199F,CYP2C8:uc010qoa.2:exon5:c.A595T:p.I199F,CYP2C8:uc001kkb.3:exon5:c.A805T:p.I269F, UNKNOWN Het;T>A 1357;71|69 Hom;T>A 2633;2|99 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 96827150 96827150 C T snp nonsynonymous SNV G38A C13Y polar,hydrophobic,neutral aromatic,polar,hydrophobic CYP2C8 Cyp2c39 ENSG00000138115 cytochrome P450 family 2 subfamily C member 8 chr10:96796530-96829254 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] drug-related genes ; Hypercholesterolemia|LDLC levels; head and neck cancer; ibuprofen clearance; rosiglitazone pharmacokinetics; Myocardial Infarction|Stroke; ovarian cancer ; myocardial infarct; drug hypersensitivity; paclitaxel pharmacokinetics; heart disease, ischemic; anticoagulant complications; ibuprofen clearance; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; ovarian cancer; Hyperlipidemias; Tobacco Use Disorder; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; hepatotoxicity, diclofenac-induced; null; oral antidiabetic pharacokinetics; Muscular Diseases; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Coronary Artery Disease; repaglinide pharmacology; malaria; Hemoglobins; hypertension; Myocardial Infarction; Chronic renal failure|Kidney Failure, Chronic; enantiomers of ibuprofen; Epilepsy; breast cancer paclitaxel pharmacokinetics; colorectal cancer; Ductus Arteriosus, Patent|Patent ductus arteriosus|Premature Birth; Kidney Failure, Chronic; Malaria, Falciparum; breast cancer ; osteonecrosis of the jaw; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; normal variation; carbamazepine hypersensitivity; epithelial ovarian cancer ; Genitourinary Neoplasms|Urogenital Neoplasms; warfarin sensitivity; Gastrointestinal Hemorrhage; lung cancer ; Jaw Diseases|Multiple Myeloma|Osteonecrosis; visual disorder; Type 2 Diabetes| edema | rosiglitazone; Osteonecrosis; ulcer, gastric; repaglinide pharmacology; coagulation disorder; reduced plasma concentrations of repaglinide; Essential Tremor; Hematocrit; Adenoma|Colorectal Neoplasms; malaria, plasmodium falciparum; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; tenoxicam bioequivalence; Epilepsy|; Type 2 diabetes; repaglinide pharmacokinetics Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) GO:0002933;lipid hydroxylation;IDA|GO:0006082;organic acid metabolic process;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IDA|GO:0017144;drug metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0042738;exogenous drug catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070989;oxidative demethylation;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0034875;caffeine oxidase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA|GO:0101020;estrogen 16-alpha-hydroxylase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/CYP2C8 https://www.uniprot.org/uniprot/P10632 https://www.ncbi.nlm.nih.gov/omim/?term=601129 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C8&submit=Quick%0D%7678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C8 rs11572076 0.053115 0.0521 0.0184 0.12 1 8 intronic exonic exonic CYP2C8 CYP2C8 ENSG00000138115 Na nonsynonymous SNV unknown Na CYP2C8:uc010qob.2:exon2:c.G38A:p.C13Y,CYP2C8:uc010qod.1:exon2:c.G38A:p.C13Y, UNKNOWN Het;C>T 117;24|8 Hom;C>T 577;2|23 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 97174352 97174352 T C snp nonsynonymous SNV A709G T237A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral SORBS1 Sorbs1 ENSG00000095637 sorbin and SH3 domain containing 1 chr10:97071528-97321171 This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Platelet Count; diabetes, type 2; plasma HDL cholesterol (HDL-C) levels; Brain Infarction|; Tobacco Use Disorder; hyperandrogenism; precocious puberty; diabetes, type 2; obesity; premature pubarche; Alcoholism; Hypertension; Leukocyte Count; Arteries; obesity; Alzheimer's disease Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet. Smooth Muscle Contraction GO:0006810;transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007015;actin filament organization;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0008286;insulin receptor signaling pathway;ISS|GO:0009967;positive regulation of signal transduction;IEA|GO:0015758;glucose transport;ISS|GO:0032869;cellular response to insulin stimulus;ISS|GO:0043149;stress fiber assembly;ISS|GO:0045725;positive regulation of glycogen biosynthetic process;ISS|GO:0046326;positive regulation of glucose import;ISS|GO:0046889;positive regulation of lipid biosynthetic process;ISS|GO:0048041;focal adhesion assembly;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;ISS GO:0001725;stress fiber;ISS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005899;insulin receptor complex;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;TAS|GO:0005915;zonula adherens;TAS|GO:0005924;cell-substrate adherens junction;ISS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;ISS GO:0003779;actin binding;TAS|GO:0005070;SH3/SH2 adaptor activity;IC|GO:0005158;insulin receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/SORBS1 https://www.uniprot.org/uniprot/Q9BX66 https://www.ncbi.nlm.nih.gov/omim/?term=605264 http://www.informatics.jax.org/searchtool/Search.do?query=SORBS1&submit=Quick%0D%2256ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORBS1 rs2281939 0.160144 0.1375 0.0894 0.23 3 13 exonic exonic exonic SORBS1 SORBS1 ENSG00000095637 nonsynonymous SNV nonsynonymous SNV unknown SORBS1:NM_001034955:exon7:c.A709G:p.T237A,SORBS1:NM_001290294:exon9:c.A709G:p.T237A,SORBS1:NM_001034954:exon7:c.A709G:p.T237A,SORBS1:NM_001034956:exon7:c.A502G:p.T168A,SORBS1:NM_015385:exon8:c.A613G:p.T205A,SORBS1:NM_001290296:exon6:c.A682G:p.T228A, SORBS1:uc001kkv.3:exon8:c.A613G:p.T205A,SORBS1:uc001kkx.1:exon9:c.A613G:p.T205A,SORBS1:uc001kkp.3:exon7:c.A709G:p.T237A,SORBS1:uc001kkw.3:exon9:c.A709G:p.T237A,SORBS1:uc010qof.1:exon8:c.A1303G:p.T435A,SORBS1:uc001kko.3:exon7:c.A709G:p.T237A,SORBS1:uc001kkq.3:exon7:c.A502G:p.T168A, UNKNOWN Het;T>C 1027;67|51 Hom;T>C 2818;1|104 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 97174537 97174537 C A snp nonsynonymous SNV G524T G175V aliphatic,neutral aliphatic,hydrophobic,neutral SORBS1 Sorbs1 ENSG00000095637 sorbin and SH3 domain containing 1 chr10:97071528-97321171 This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Platelet Count; diabetes, type 2; plasma HDL cholesterol (HDL-C) levels; Brain Infarction|; Tobacco Use Disorder; hyperandrogenism; precocious puberty; diabetes, type 2; obesity; premature pubarche; Alcoholism; Hypertension; Leukocyte Count; Arteries; obesity; Alzheimer's disease Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet. Smooth Muscle Contraction GO:0006810;transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007015;actin filament organization;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0008286;insulin receptor signaling pathway;ISS|GO:0009967;positive regulation of signal transduction;IEA|GO:0015758;glucose transport;ISS|GO:0032869;cellular response to insulin stimulus;ISS|GO:0043149;stress fiber assembly;ISS|GO:0045725;positive regulation of glycogen biosynthetic process;ISS|GO:0046326;positive regulation of glucose import;ISS|GO:0046889;positive regulation of lipid biosynthetic process;ISS|GO:0048041;focal adhesion assembly;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;ISS GO:0001725;stress fiber;ISS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005899;insulin receptor complex;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;TAS|GO:0005915;zonula adherens;TAS|GO:0005924;cell-substrate adherens junction;ISS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;ISS GO:0003779;actin binding;TAS|GO:0005070;SH3/SH2 adaptor activity;IC|GO:0005158;insulin receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/SORBS1 https://www.uniprot.org/uniprot/Q9BX66 https://www.ncbi.nlm.nih.gov/omim/?term=605264 http://www.informatics.jax.org/searchtool/Search.do?query=SORBS1&submit=Quick%0D%2256ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORBS1 rs7081076 0.0628994 0.0372 0.0428 0.62 8 13 exonic exonic exonic SORBS1 SORBS1 ENSG00000095637 nonsynonymous SNV nonsynonymous SNV unknown SORBS1:NM_001034955:exon7:c.G524T:p.G175V,SORBS1:NM_001290294:exon9:c.G524T:p.G175V,SORBS1:NM_001034954:exon7:c.G524T:p.G175V,SORBS1:NM_015385:exon8:c.G428T:p.G143V,SORBS1:NM_001290296:exon6:c.G497T:p.G166V, SORBS1:uc001kkv.3:exon8:c.G428T:p.G143V,SORBS1:uc001kkx.1:exon9:c.G428T:p.G143V,SORBS1:uc001kkp.3:exon7:c.G524T:p.G175V,SORBS1:uc001kkw.3:exon9:c.G524T:p.G175V,SORBS1:uc010qof.1:exon8:c.G1118T:p.G373V,SORBS1:uc001kko.3:exon7:c.G524T:p.G175V, UNKNOWN Het;C>A 1329;71|67 Hom;C>A 3678;1|140 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 99116903 99116903 C T snp nonsynonymous SNV G3842A R1281Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral RRP12 Rrp12 ENSG00000052749 ribosomal RNA processing 12 homolog chr10:99116115-99161127 Alzheimer's disease ; Tobacco Use Disorder GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RRP12 https://www.uniprot.org/uniprot/Q5JTH9 http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12 rs1048445 0.283347 0.2363 0.2737 0.23 3 13 exonic exonic exonic RRP12 RRP12 ENSG00000052749 nonsynonymous SNV nonsynonymous SNV unknown RRP12:NM_015179:exon34:c.G3842A:p.R1281Q,RRP12:NM_001284337:exon31:c.G3542A:p.R1181Q,RRP12:NM_001145114:exon32:c.G3659A:p.R1220Q, RRP12:uc009xvm.3:exon28:c.G2996A:p.R999Q,RRP12:uc009xvl.3:exon17:c.G1193A:p.R398Q,RRP12:uc001kne.3:exon9:c.G887A:p.R296Q,RRP12:uc009xvn.3:exon31:c.G3542A:p.R1181Q,RRP12:uc001knf.3:exon34:c.G3842A:p.R1281Q,RRP12:uc010qou.2:exon32:c.G3659A:p.R1220Q, UNKNOWN Het;C>T 1298;47|60 Hom;C>T 2536;0|96 10_101.305_148.305 Chr10:78740262-120743937 1.191 10 99969568 99969568 A G snp nonsynonymous SNV A1697G H566R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) R3HCC1L R3hcc1l ENSG00000166024 R3H domain and coiled-coil containing 1 like chr10:99894387-100004654 Alzheimer's disease ; Tobacco Use Disorder GO:0035145;exon-exon junction complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/R3HCC1L http://www.informatics.jax.org/searchtool/Search.do?query=R3HCC1L&submit=Quick%0D%11680ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=R3HCC1L rs11189513 0.288538 0.2422 0.3222 0.08 1 13 exonic exonic exonic R3HCC1L R3HCC1L ENSG00000166024 nonsynonymous SNV nonsynonymous SNV unknown R3HCC1L:NM_001256619:exon5:c.A1697G:p.H566R,R3HCC1L:NM_014472:exon4:c.A1697G:p.H566R,R3HCC1L:NM_001256620:exon4:c.A1697G:p.H566R,R3HCC1L:NM_138469:exon5:c.A1697G:p.H566R, R3HCC1L:uc001koy.4:exon5:c.A1697G:p.H566R,R3HCC1L:uc001kox.4:exon5:c.A1697G:p.H566R,R3HCC1L:uc009xvx.3:exon4:c.A1697G:p.H566R,R3HCC1L:uc001kow.4:exon4:c.A1697G:p.H566R, UNKNOWN Het;A>G 2706;133|129 Hom;A>G 7059;0|255 N N - 11 102477377 102477377 G T snp nonsynonymous SNV C842A T281N polar,hydrophilic,neutral polar,hydrophilic,neutral MMP20 Mmp20 ENSG00000137674 matrix metallopeptidase 20 chr11:102447566-102496063 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011] kidney aging; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Lipoproteins, VLDL Mice homozygous for a knockout allele exhibit a severe and profound tooth phenotype that includes altered amelogenin processing, enamel that delaminates from dentin, a hypoplastic enamel, a disorganized prism pattern, and a progressively deteriorating enamel morphology. Assembly of collagen fibrils and other multimeric structures GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;IEA|GO:0030163;protein catabolic process;IEA|GO:0030574;collagen catabolic process;TAS|GO:0070173;regulation of enamel mineralization;TAS|GO:0097186;amelogenesis;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP20 https://www.uniprot.org/uniprot/O60882 https://hpo.jax.org/app/browse/search?q=MMP20&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604629 http://www.informatics.jax.org/searchtool/Search.do?query=MMP20&submit=Quick%0D%7576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP20 rs1784424 0.419928 0.4065 0.4517 0.08 1 13 exonic exonic exonic MMP20 MMP20 ENSG00000137674 nonsynonymous SNV nonsynonymous SNV unknown MMP20:NM_004771:exon6:c.C842A:p.T281N, MMP20:uc001phc.3:exon6:c.C842A:p.T281N, UNKNOWN Het;G>T 850;34|42 Hom;G>T 2170;0|79 N N - 11 102477395 102477395 A G snp nonsynonymous SNV T824C V275A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MMP20 Mmp20 ENSG00000137674 matrix metallopeptidase 20 chr11:102447566-102496063 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011] kidney aging; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Lipoproteins, VLDL Mice homozygous for a knockout allele exhibit a severe and profound tooth phenotype that includes altered amelogenin processing, enamel that delaminates from dentin, a hypoplastic enamel, a disorganized prism pattern, and a progressively deteriorating enamel morphology. Assembly of collagen fibrils and other multimeric structures GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;IEA|GO:0030163;protein catabolic process;IEA|GO:0030574;collagen catabolic process;TAS|GO:0070173;regulation of enamel mineralization;TAS|GO:0097186;amelogenesis;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP20 https://www.uniprot.org/uniprot/O60882 https://hpo.jax.org/app/browse/search?q=MMP20&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604629 http://www.informatics.jax.org/searchtool/Search.do?query=MMP20&submit=Quick%0D%7576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP20 rs1784423 0.419928 0.4065 0.4519 0.15 2 13 exonic exonic exonic MMP20 MMP20 ENSG00000137674 nonsynonymous SNV nonsynonymous SNV unknown MMP20:NM_004771:exon6:c.T824C:p.V275A, MMP20:uc001phc.3:exon6:c.T824C:p.V275A, UNKNOWN Het;A>G 613;30|26 Hom;A>G 1870;0|66 N N - 11 103027234 103027234 A G snp nonsynonymous SNV A3862G T1288A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral DYNC2H1 Dync2h1 ENSG00000187240 dynein cytoplasmic 2 heavy chain 1 chr11:102980160-103350591 This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010] lung cancer; Hip; Neutrophils; Platelet Aggregation; Coronary Artery Disease; Small Cell Lung Carcinoma; Tobacco Use Disorder; Triglycerides Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed. Intraflagellar transport GO:0007018;microtubule-based movement;IEA|GO:0007030;Golgi organization;IDA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;IEA|GO:0008105;asymmetric protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0030030;cell projection organization;IEA|GO:0030182;neuron differentiation;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030900;forebrain development;IEA|GO:0035721;intraciliary retrograde transport;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0045880;positive regulation of smoothened signaling pathway;IEA|GO:0060271;cilium assembly;IEA|GO:0060976;coronary vasculature development;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0030286;dynein complex;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008569;ATP-dependent microtubule motor activity, minus-end-directed;IDA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DYNC2H1 https://hpo.jax.org/app/browse/search?q=DYNC2H1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603297 http://www.informatics.jax.org/searchtool/Search.do?query=DYNC2H1&submit=Quick%0D%15806ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNC2H1 rs17301750 0.076278 0.0877 0.1048 0.31 4 13 exonic exonic exonic DYNC2H1 DYNC2H1 ENSG00000187240 nonsynonymous SNV nonsynonymous SNV unknown DYNC2H1:NM_001080463:exon26:c.A3862G:p.T1288A,DYNC2H1:NM_001377:exon26:c.A3862G:p.T1288A, DYNC2H1:uc001pho.2:exon26:c.A3862G:p.T1288A,DYNC2H1:uc001phn.1:exon26:c.A3862G:p.T1288A, UNKNOWN Het;A>G 2070;93|93 Hom;A>G 5709;0|211 N N - 11 107992346 107992346 G C snp nonsynonymous SNV G13C A5P aliphatic,hydrophobic,neutral hydrophobic,neutral ACAT1 Acat1 ENSG00000075239 acetyl-CoA acetyltransferase 1 chr11:107992243-108018503 This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009] BMI- Edema rosiglitazone or pioglitazone; dementia; Alzheimer's disease ; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors; Acquired Immunodeficiency Syndrome|Disease Progression; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Stroke; lipids; lipoproteins Synthesis of Ketone Bodies GO:0001889;liver development;IEA|GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0006550;isoleucine catabolic process;IMP|GO:0006635;fatty acid beta-oxidation;IBA|GO:0007420;brain development;IEA|GO:0008152;metabolic process;IEA|GO:0009083;branched-chain amino acid catabolic process;TAS|GO:0009725;response to hormone;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0015936;coenzyme A metabolic process;IDA|GO:0015937;coenzyme A biosynthetic process;IDA|GO:0042594;response to starvation;IEA|GO:0046356;acetyl-CoA catabolic process;IDA|GO:0046951;ketone body biosynthetic process;TAS|GO:0046952;ketone body catabolic process;TAS|GO:0051260;protein homooligomerization;IEA|GO:0060612;adipose tissue development;IEA|GO:0072229;metanephric proximal convoluted tubule development;IEA|GO:1902224;ketone body metabolic process;IC|GO:1902860;propionyl-CoA biosynthetic process;IDA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003985;acetyl-CoA C-acetyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016747;transferase activity, transferring acyl groups other than amino-acyl groups;IEA|GO:0016830;carbon-carbon lyase activity;IDA|GO:0016885;ligase activity, forming carbon-carbon bonds;IDA|GO:0019899;enzyme binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050662;coenzyme binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACAT1 https://www.uniprot.org/uniprot/P24752 https://hpo.jax.org/app/browse/search?q=ACAT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607809 http://www.informatics.jax.org/searchtool/Search.do?query=ACAT1&submit=Quick%0D%1534ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACAT1 rs3741056 0.331869 0.2097 0.4014 0.25 3 12 exonic exonic exonic ACAT1 ACAT1 ENSG00000075239 nonsynonymous SNV nonsynonymous SNV unknown ACAT1:NM_000019:exon1:c.G13C:p.A5P, ACAT1:uc001pjw.1:exon1:c.G13C:p.A5P,ACAT1:uc001pjy.3:exon1:c.G13C:p.A5P, UNKNOWN Het;G>C 788;49|39 Hom;G>C 2210;0|80 N N - 11 108043988 108043988 C T snp nonsynonymous SNV G1723A V575I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NPAT Npat ENSG00000149308 nuclear protein, coactivator of histone transcription chr11:108027942-108093369 Type 2 Diabetes| edema | rosiglitazone; bladder cancer GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0010468;regulation of gene expression;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0015030;Cajal body;IDA|GO:0097504;Gemini of coiled bodies;IDA GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IMP|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NPAT https://www.uniprot.org/uniprot/Q14207 https://www.ncbi.nlm.nih.gov/omim/?term=601448 http://www.informatics.jax.org/searchtool/Search.do?query=NPAT&submit=Quick%0D%9220ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPAT rs2070661 0.615615 0.5932 0.5950 0.15 2 13 exonic exonic exonic NPAT NPAT ENSG00000149308 nonsynonymous SNV nonsynonymous SNV unknown NPAT:NM_002519:exon13:c.G1723A:p.V575I, NPAT:uc001pka.3:exon8:c.G1108A:p.V370I,NPAT:uc001pjz.4:exon13:c.G1723A:p.V575I, UNKNOWN Het;C>T 1262;45|53 Hom;C>T 3552;0|125 N N - 11 113268059 113268059 G A snp nonsynonymous SNV G952A G318R aliphatic,neutral polar,hydrophilic,charged(+) ANKK1 Ankk1 ENSG00000170209 ankyrin repeat and kinase domain containing 1 chr11:113258513-113271140 The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009] Alcoholism|Substance-Related Disorders; personality; Brain Injuries; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; Opioid-Related Disorders; Alcoholism|; nicotine dependence; Alcoholism; null; electrocortical measures of error and feedback processing; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; schizophrenia; Nervous System Diseases; Alcoholism|Disease Susceptibility; Fatigue; Marijuana Abuse|Psychoses, Substance-Induced; Hyperphagia|Obesity|Weight Gain; alcohol; Schizophrenia; bladder cancer GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANKK1 https://www.ncbi.nlm.nih.gov/omim/?term=608774 http://www.informatics.jax.org/searchtool/Search.do?query=ANKK1&submit=Quick%0D%12649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKK1 rs11604671 0.226238 0.3747 0.3992 0.08 1 13 exonic exonic exonic ANKK1 ANKK1 ENSG00000170209 nonsynonymous SNV nonsynonymous SNV unknown ANKK1:NM_178510:exon6:c.G952A:p.G318R, ANKK1:uc001pny.3:exon6:c.G952A:p.G318R, UNKNOWN Het;G>A 1495;72|76 Hom;G>A 2338;0|84 N N - 11 113270160 113270160 A G snp nonsynonymous SNV A1469G H490R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ANKK1 Ankk1 ENSG00000170209 ankyrin repeat and kinase domain containing 1 chr11:113258513-113271140 The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009] Alcoholism|Substance-Related Disorders; personality; Brain Injuries; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic; Opioid-Related Disorders; Alcoholism|; nicotine dependence; Alcoholism; null; electrocortical measures of error and feedback processing; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; schizophrenia; Nervous System Diseases; Alcoholism|Disease Susceptibility; Fatigue; Marijuana Abuse|Psychoses, Substance-Induced; Hyperphagia|Obesity|Weight Gain; alcohol; Schizophrenia; bladder cancer GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANKK1 https://www.ncbi.nlm.nih.gov/omim/?term=608774 http://www.informatics.jax.org/searchtool/Search.do?query=ANKK1&submit=Quick%0D%12649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKK1 rs2734849 0.245008 0.3919 0.4502 0.15 2 13 exonic exonic exonic ANKK1 ANKK1 ENSG00000170209 nonsynonymous SNV nonsynonymous SNV unknown ANKK1:NM_178510:exon8:c.A1469G:p.H490R, ANKK1:uc001pny.3:exon8:c.A1469G:p.H490R, UNKNOWN Het;A>G 1975;114|96 Hom;A>G 4606;0|169 N N - 11 11373960 11373960 C T snp nonsynonymous SNV G707A R236H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) CSNK2A3 Csnk2a1 ENSG00000254598 casein kinase 2 alpha 3 chr11:11373489-11374904 This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [provided by RefSeq, Feb 2012] lung cancer Mice homozygous for the null in the major catalytic subunit die by E11.5 and exhibit defects in neural, cardiac and limb development. GO:0006468;protein phosphorylation;IDA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0016310;phosphorylation;IEA|GO:0030307;positive regulation of cell growth;IDA|GO:0045732;positive regulation of protein catabolic process;IDA GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CSNK2A3 http://www.informatics.jax.org/searchtool/Search.do?query=CSNK2A3&submit=Quick%0D%20069ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSNK2A3 rs2071461 0.625 0 0.7044 0.14 1 7 exonic exonic exonic CSNK2A3 CSNK2A3 ENSG00000254598 nonsynonymous SNV nonsynonymous SNV unknown CSNK2A3:NM_001256686:exon1:c.G707A:p.R236H, CSNK2A3:uc001mjp.4:exon1:c.G707A:p.R236H, UNKNOWN Het;C>T 2723;143|131 Hom;C>T 6444;2|229 N N - 11 114401611 114401611 A G snp nonsynonymous SNV T119C L40S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral NXPE1 ENSG00000095110 neurexophilin and PC-esterase domain family member 1 chr11:114392437-114430617 Myocardial Infarction; Colitis, Ulcerative; Cholesterol, LDL GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/NXPE1 https://www.uniprot.org/uniprot/Q8N323 http://www.informatics.jax.org/searchtool/Search.do?query=NXPE1&submit=Quick%0D%2235ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE1 rs7944960 0.238818 0 0.1699 0.09 1 11 UTR5 exonic exonic NXPE1(NM_152315:c.-308T>C) NXPE1 ENSG00000095110 Na nonsynonymous SNV unknown Na NXPE1:uc001ppb.1:exon6:c.T119C:p.L40S, UNKNOWN Het;A>G 707;34|36 Hom;A>G 1922;0|69 N N - 11 114442103 114442103 A G snp nonsynonymous SNV T340C Y114H aromatic,polar,hydrophobic aromatic,polar,hydrophilic,charged(+) NXPE4 Nxpe4 ENSG00000137634 neurexophilin and PC-esterase domain family member 4 chr11:114441313-114466484 Myocardial Infarction; Hemoglobins; Tobacco Use Disorder GO:0008150;biological_process;ND GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/NXPE4 https://www.uniprot.org/uniprot/Q6UWF7 http://www.informatics.jax.org/searchtool/Search.do?query=NXPE4&submit=Quick%0D%7570ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE4 rs550897 0.653954 0.5983 0.5404 0.23 3 13 exonic exonic exonic NXPE4 NXPE4 ENSG00000137634 nonsynonymous SNV nonsynonymous SNV unknown NXPE4:NM_017678:exon6:c.T340C:p.Y114H,NXPE4:NM_001077639:exon6:c.T1192C:p.Y398H, NXPE4:uc001ppc.3:exon6:c.T1192C:p.Y398H,NXPE4:uc001ppd.3:exon6:c.T340C:p.Y114H, UNKNOWN Het;A>G 1440;27|62 Hom;A>G 3277;0|113 N N - 11 114576626 114576626 A T snp nonsynonymous SNV A1052T N351I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral NXPE2 Nxpe2 ENSG00000204361 neurexophilin and PC-esterase domain family member 2 chr11:114549108-114579362 Albuminuria; urinary albumin excretion; Albumins; Blood Pressure; Insulin; Body Weight; Waist-Hip Ratio GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NXPE2 http://www.informatics.jax.org/searchtool/Search.do?query=NXPE2&submit=Quick%0D%17272ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NXPE2 rs1356428 0.304912 0.2928 0.3631 0.08 1 13 exonic exonic exonic NXPE2 NXPE2 ENSG00000204361 nonsynonymous SNV nonsynonymous SNV unknown NXPE2:NM_182495:exon5:c.A1052T:p.N351I, NXPE2:uc009yyy.2:exon5:c.A1052T:p.N351I, UNKNOWN Het;A>T 860;26|39 Hom;A>T 1910;0|70 N N - 11 117070547 117070550 TGAG T indel splicing TAGLN Tagln ENSG00000149591 transgelin chr11:117070037-117075498 The protein encoded by this gene is a transformation and shape-change sensitive actin cross-linking/gelling protein found in fibroblasts and smooth muscle. Its expression is down-regulated in many cell lines, and this down-regulation may be an early and sensitive marker for the onset of transformation. A functional role of this protein is unclear. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] carotid artery stenosis ; prostate cancer; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Triglycerides Mice homozygous for targeted mutations in this gene are viable, fertile and phenotypically normal. GO:0007517;muscle organ development;TAS|GO:0030855;epithelial cell differentiation;IDA GO:0005737;cytoplasm;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TAGLN https://www.uniprot.org/uniprot/Q01995 https://www.ncbi.nlm.nih.gov/omim/?term=600818 http://www.informatics.jax.org/searchtool/Search.do?query=TAGLN&submit=Quick%0D%9259ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAGLN rs10577826 0.478834 0 0 1 0 0 splicing splicing splicing TAGLN TAGLN ENSG00000149591 Na Na Na Na Na Na Het;-GAG 1312;54|36 Hom;-GAG 3056;0|69 N N - 11 117266312 117266312 C G snp nonsynonymous SNV C2972G T991S polar,hydrophilic,neutral polar,hydrophilic,neutral CEP164 Cep164 ENSG00000110274 centrosomal protein 164 chr11:117185273-117283984 This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Tunica Media AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0030030;cell projection organization;IEA|GO:0051301;cell division;IEA|GO:0060271;cilium assembly;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016607;nuclear speck;IDA|GO:0097539;ciliary transition fiber;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP164 https://www.uniprot.org/uniprot/Q9UPV0 https://hpo.jax.org/app/browse/search?q=CEP164&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614848 http://www.informatics.jax.org/searchtool/Search.do?query=CEP164&submit=Quick%0D%3945ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP164 rs2305830 0.277955 0.2951 0.2802 0.08 1 13 exonic exonic exonic CEP164 CEP164 ENSG00000110274 nonsynonymous SNV nonsynonymous SNV unknown CEP164:NM_001271933:exon23:c.C2972G:p.T991S,CEP164:NM_014956:exon24:c.C2963G:p.T988S, CEP164:uc010rxk.1:exon22:c.C2885G:p.T962S,CEP164:uc001prc.3:exon24:c.C2963G:p.T988S,CEP164:uc001prg.1:exon10:c.C1262G:p.T421S,CEP164:uc001prb.4:exon23:c.C2972G:p.T991S, UNKNOWN Het;C>G 710;11|34 Hom;C>G 1336;0|45 N N - 11 117403235 117403235 G T snp nonsynonymous SNV C694A H232N aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral DSCAML1 Dscaml1 ENSG00000177103 DS cell adhesion molecule like 1 chr11:117298489-117688240 The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016] triglycerides; Stroke; Tobacco Use Disorder; Triglycerides; Alcoholism; Cholesterol, HDL Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina. DSCAM interactions GO:0001709;cell fate determination;NAS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;NAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IDA|GO:0009953;dorsal/ventral pattern formation;NAS|GO:0048704;embryonic skeletal system morphogenesis;IDA GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/DSCAML1 https://www.ncbi.nlm.nih.gov/omim/?term=611782 http://www.informatics.jax.org/searchtool/Search.do?query=DSCAML1&submit=Quick%0D%13968ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSCAML1 rs3741280 0.452676 0.3227 0.3667 0.17 2 12 exonic exonic exonic DSCAML1 DSCAML1 ENSG00000177103 nonsynonymous SNV nonsynonymous SNV unknown DSCAML1:NM_020693:exon4:c.C694A:p.H232N, DSCAML1:uc001pri.1:exon4:c.C106A:p.H36N,DSCAML1:uc001prh.1:exon4:c.C694A:p.H232N, UNKNOWN Het;G>T 1243;50|57 Hom;G>T 2537;0|97 N N - 11 119216504 119216504 C T snp nonsynonymous SNV G406A V136M aliphatic,hydrophobic,neutral hydrophobic,neutral MFRP Mfrp ENSG00000235718 membrane frizzled-related protein chr11:119209652-119217368 This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013] Hyperopia; Eye Abnormalities|Glaucoma, Angle-Closure; Hyperopia|Microphthalmos|Myopia Mutations produce mice having small, white retinal spots and progressive photoreceptor degeneration. GO:0007601;visual perception;IEA|GO:0009790;embryo development;NAS|GO:0042462;eye photoreceptor cell development;IEA|GO:0060041;retina development in camera-type eye;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/MFRP https://hpo.jax.org/app/browse/search?q=MFRP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606227 http://www.informatics.jax.org/searchtool/Search.do?query=MFRP&submit=Quick%0D%19360ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFRP rs3814762 0.182109 0.2464 0.2664 0.08 1 13 exonic exonic exonic MFRP MFRP ENSG00000235718,ENSG00000259159 nonsynonymous SNV nonsynonymous SNV unknown MFRP:NM_031433:exon4:c.G406A:p.V136M, MFRP:uc010rzg.1:exon4:c.G406A:p.V136M, UNKNOWN Het;C>T 610;30|34 Hom;C>T 1246;0|48 N N - 11 122738261 122738261 A G snp nonsynonymous SNV A365G K122R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) CRTAM Crtam ENSG00000109943 cytotoxic and regulatory T-cell molecule chr11:122709208-122743347 The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009] Homozygous null mice have defects in late stage T cell activation that leads to less production of inflammatory cytokines, higher proliferation, and an increase in T cell number with age. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0002250;adaptive immune response;IEA|GO:0002355;detection of tumor cell;IDA|GO:0002376;immune system process;IEA|GO:0002860;positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target;IDA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IBA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IBA|GO:0008037;cell recognition;IDA|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IDA|GO:0050715;positive regulation of cytokine secretion;IDA|GO:0050776;regulation of immune response;TAS|GO:0051606;detection of stimulus;IDA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0005913;cell-cell adherens junction;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;IBA|GO:0005102;receptor binding;IPI|GO:0042803;protein homodimerization activity;IBA|GO:0050839;cell adhesion molecule binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/CRTAM https://www.uniprot.org/uniprot/O95727 https://www.ncbi.nlm.nih.gov/omim/?term=612597 http://www.informatics.jax.org/searchtool/Search.do?query=CRTAM&submit=Quick%0D%3904ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRTAM rs2272094 0.550319 0.6215 0.6665 0.15 2 13 exonic exonic exonic CRTAM CRTAM ENSG00000109943 nonsynonymous SNV nonsynonymous SNV unknown CRTAM:NM_001304782:exon3:c.A365G:p.K122R,CRTAM:NM_019604:exon8:c.A962G:p.K321R, CRTAM:uc001pyj.3:exon8:c.A962G:p.K321R,CRTAM:uc001pyk.3:exon3:c.A365G:p.K122R, UNKNOWN Het;A>G 1199;75|53 Hom;A>G 3619;0|126 N N - 11 124440617 124440617 C T snp nonsynonymous SNV C653T S218L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral OR8A1 Olfr160 ENSG00000196119 olfactory receptor family 8 subfamily A member 1 chr11:124439893-124441037 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Deletion of the coding region causes olfactory sensory neurons to coexpress other odorant receptor (ORs) that function in axonal identity. A drastic reduction in OR protein level causes axonal coalescence into new remote glomeruli. Chimeric ORs and ORs with minor mutations preclude axon outgrowth. Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007411;axon guidance;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR8A1 http://www.informatics.jax.org/searchtool/Search.do?query=OR8A1&submit=Quick%0D%16261ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR8A1 rs12792184 0.772564 0.7507 0.7606 0.15 2 13 exonic exonic exonic OR8A1 OR8A1 ENSG00000196119 nonsynonymous SNV nonsynonymous SNV unknown OR8A1:NM_001005194:exon1:c.C653T:p.S218L, OR8A1:uc010san.2:exon1:c.C653T:p.S218L, UNKNOWN Het;C>T 1441;69|66 Hom;C>T 3228;0|116 N N - 11 124750447 124750453 CCGGAGT C indel nonframeshift substitution 1239_1245C ROBO3 Robo3 ENSG00000154134 roundabout guidance receptor 3 chr11:124735282-124751366 This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009] Tourette Syndrome; autism Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates. Regulation of Commissural axon pathfinding by Slit and Robo GO:0006935;chemotaxis;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;NAS|GO:0016199;axon midline choice point recognition;ISS|GO:0030154;cell differentiation;IEA|GO:0035385;Roundabout signaling pathway;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA http://www.genecards.org/index.php?path=/Search/keyword/ROBO3 https://www.uniprot.org/uniprot/Q96MS0 https://hpo.jax.org/app/browse/search?q=ROBO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608630 http://www.informatics.jax.org/searchtool/Search.do?query=ROBO3&submit=Quick%0D%9732ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO3 rs56085444 0.420727 0.3412 0.3603 1 0 0 exonic exonic exonic ROBO3 ROBO3 ENSG00000154134 nonframeshift substitution nonframeshift substitution unknown ROBO3:NM_022370:exon27:c.4092_4098C, ROBO3:uc010sar.2:exon10:c.1239_1245C,ROBO3:uc001qbc.3:exon27:c.4092_4098C,ROBO3:uc001qbe.3:exon8:c.867_873C,ROBO3:uc001qbf.1:exon7:c.744_750C,ROBO3:uc001qbd.2:exon11:c.867_873C, UNKNOWN Het;-CGGAGT 975;25|28 Hom;-CGGAGT 2251;2|54 N N - 11 124767067 124767067 T C snp nonsynonymous SNV A161G Q54R polar,hydrophilic,neutral polar,hydrophilic,charged(+) ROBO4 Robo4 ENSG00000154133 roundabout guidance receptor 4 chr11:124753587-124768396 autism; Prostatic Neoplasms; Amyotrophic Lateral Sclerosis|Anoxia|; Tourette Syndrome Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization. GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030334;regulation of cell migration;NAS GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0004872;receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ROBO4 https://www.uniprot.org/uniprot/Q8WZ75 https://www.ncbi.nlm.nih.gov/omim/?term=607528 http://www.informatics.jax.org/searchtool/Search.do?query=ROBO4&submit=Quick%0D%9731ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ROBO4 rs59648931 0.384585 0.3435 0.3467 0.15 2 13 exonic exonic exonic ROBO4 ROBO4 ENSG00000154133 nonsynonymous SNV nonsynonymous SNV unknown ROBO4:NM_019055:exon2:c.A161G:p.Q54R, ROBO4:uc001qbg.3:exon2:c.A161G:p.Q54R, UNKNOWN Het;T>C 1373;49|63 Hom;T>C 2752;0|101 N N - 11 124793682 124793682 T C snp nonsynonymous SNV A652G M218V hydrophobic,neutral aliphatic,hydrophobic,neutral HEPACAM Hepacam ENSG00000165478 hepatic and glial cell adhesion molecule chr11:124789089-124806308 The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011] Megalencephalic leukoencephalopathy with subcortical cysts 2b remitting with or without mental retardation Mice homozygous for a null allele display myelin vacuolization that progresses with age. GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0007155;cell adhesion;IEA|GO:0034613;cellular protein localization;IEA|GO:0040008;regulation of growth;IEA GO:0005737;cytoplasm;IEA|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IDA http://www.genecards.org/index.php?path=/Search/keyword/HEPACAM https://hpo.jax.org/app/browse/search?q=HEPACAM&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611642 http://www.informatics.jax.org/searchtool/Search.do?query=HEPACAM&submit=Quick%0D%11547ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HEPACAM rs10790715 0.79393 0.7519 0.7286 0.08 1 13 exonic exonic exonic HEPACAM HEPACAM ENSG00000165478 nonsynonymous SNV nonsynonymous SNV unknown HEPACAM:NM_152722:exon3:c.A652G:p.M218V, HEPACAM:uc001qbl.1:exon3:c.A652G:p.M218V,HEPACAM:uc001qbk.3:exon3:c.A652G:p.M218V, UNKNOWN Het;T>C 1814;72|81 Hom;T>C 4047;0|148 N N - 11 124947396 124947396 A G snp nonsynonymous SNV A286G I96V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLC37A2 Slc37a2 ENSG00000134955 solute carrier family 37 member 2 chr11:124932963-124959131 Gluconeogenesis GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015760;glucose-6-phosphate transport;TAS|GO:0035435;phosphate ion transmembrane transport;IDA|GO:0055085;transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0061513;glucose 6-phosphate:inorganic phosphate antiporter activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SLC37A2 https://www.uniprot.org/uniprot/Q8TED4 http://www.informatics.jax.org/searchtool/Search.do?query=SLC37A2&submit=Quick%0D%7061ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC37A2 rs55752830 0.377196 0.3978 0.3542 0.23 3 13 exonic exonic exonic SLC37A2 SLC37A2 ENSG00000134955 nonsynonymous SNV nonsynonymous SNV unknown SLC37A2:NM_198277:exon4:c.A286G:p.I96V,SLC37A2:NM_001145290:exon4:c.A286G:p.I96V, SLC37A2:uc010sau.2:exon4:c.A286G:p.I96V,SLC37A2:uc001qbn.3:exon4:c.A286G:p.I96V, UNKNOWN Het;A>G 1240;51|58 Hom;A>G 2356;0|92 N N - 11 125617606 125617606 G A snp nonsynonymous SNV G136A V46I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PATE1 Pate1 ENSG00000171053 prostate and testis expressed 1 chr11:125616188-125619762 Male mice exhibit normal spermatozoa and fecundity. GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PATE1 https://www.ncbi.nlm.nih.gov/omim/?term=606861 http://www.informatics.jax.org/searchtool/Search.do?query=PATE1&submit=Quick%0D%12837ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PATE1 rs537916 0.274161 0.3118 0.3327 0.15 2 13 exonic exonic exonic PATE1 PATE1 ENSG00000171053 nonsynonymous SNV nonsynonymous SNV unknown PATE1:NM_138294:exon4:c.G136A:p.V46I, PATE1:uc009zbr.3:exon3:c.G100A:p.V34I,PATE1:uc001qct.3:exon4:c.G136A:p.V46I, UNKNOWN Het;G>A 405;43|22 Hom;G>A 1625;2|64 N N - 11 125707761 125707761 A C snp splicing 59-2A>C PATE4 ENSG00000237353 prostate and testis expressed 4 chr11:125703211-125709964 Mice homozygous for a knock-out allele exhibit normal viability with no detectable defects in bone formation or remodeling, organ gross morphology or fertility. Mice homozygous for a different knock-out allele exhibit male subfertility due to impaired vaginal plug formation and semen leakage. GO:0009611;response to wounding;IEA|GO:0050804;modulation of synaptic transmission;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0031410;cytoplasmic vesicle;IEA http://www.genecards.org/index.php?path=/Search/keyword/PATE4 http://www.informatics.jax.org/searchtool/Search.do?query=PATE4&submit=Quick%0D%19495ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PATE4 rs11220236 0.492812 0 0.5778 0.25 1 4 splicing splicing splicing PATE4(NM_001144874:exon2:c.59-2A>C) PATE4(uc001qcv.3:exon2:c.59-2A>C) ENSG00000237353(ENST00000457514:exon2:c.59-2A>C) Na Na Na Na Na Na Het;A>C 190;22|11 Hom;A>C 736;0|24 N N - 11 125763746 125763746 C G snp nonsynonymous SNV G1380C E460D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) PUS3 Pus3 ENSG00000110060 pseudouridylate synthase 3 chr11:125763381-125773116 The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Mental retardation autosomal recessive 55 tRNA modification in the nucleus and cytosol GO:0001522;pseudouridine synthesis;IEA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0009451;RNA modification;IEA|GO:0031119;tRNA pseudouridine synthesis;IMP|GO:1990481;mRNA pseudouridine synthesis;IBA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0003723;RNA binding;IEA|GO:0009982;pseudouridine synthase activity;IMP|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PUS3 https://www.uniprot.org/uniprot/Q9BZE2 https://hpo.jax.org/app/browse/search?q=PUS3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616283 http://www.informatics.jax.org/searchtool/Search.do?query=PUS3&submit=Quick%0D%3919ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PUS3 rs3088241 0.458666 0.4668 0.4931 0.08 1 13 exonic exonic exonic PUS3 PUS3 ENSG00000110060 nonsynonymous SNV nonsynonymous SNV unknown PUS3:NM_031307:exon4:c.G1380C:p.E460D,PUS3:NM_001271985:exon3:c.G756C:p.E252D, PUS3:uc001qcy.2:exon4:c.G1380C:p.E460D,PUS3:uc031qfe.1:exon3:c.G756C:p.E252D, UNKNOWN Het;C>G 1289;79|63 Hom;C>G 4269;1|151 N N - 11 125766044 125766044 C A snp nonsynonymous SNV G136T A46S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral PUS3 Pus3 ENSG00000110060 pseudouridylate synthase 3 chr11:125763381-125773116 The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Mental retardation autosomal recessive 55 tRNA modification in the nucleus and cytosol GO:0001522;pseudouridine synthesis;IEA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0009451;RNA modification;IEA|GO:0031119;tRNA pseudouridine synthesis;IMP|GO:1990481;mRNA pseudouridine synthesis;IBA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0003723;RNA binding;IEA|GO:0009982;pseudouridine synthase activity;IMP|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PUS3 https://www.uniprot.org/uniprot/Q9BZE2 https://hpo.jax.org/app/browse/search?q=PUS3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616283 http://www.informatics.jax.org/searchtool/Search.do?query=PUS3&submit=Quick%0D%3919ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PUS3 rs549990 0.63738 0.6625 0.6684 0.15 2 13 exonic exonic exonic PUS3 PUS3 ENSG00000110060 nonsynonymous SNV nonsynonymous SNV unknown PUS3:NM_031307:exon2:c.G136T:p.A46S, PUS3:uc001qcy.2:exon2:c.G136T:p.A46S, UNKNOWN Het;C>A 2473;91|113 Hom;C>A 4095;0|150 N N - 11 1267960 1267960 A G snp nonsynonymous SNV A9850G T3284A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral MUC5B Muc5b ENSG00000117983 mucin 5B, oligomeric mucus/gel-forming chr11:1244296-1283406 This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010] Albumins; bladder cancer; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Otitis Media|Otitis Media with Effusion|Recurrence; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections Mice homozygous for a knock-out allele accumulate materials in the upper and lower airways leading to chronic infection and inflammation that does not resolve and results in premature death. Macrophage function is impaired. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS|GO:0042742;defense response to bacterium;IEA|GO:0043030;regulation of macrophage activation;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0070701;mucus layer;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC5B https://www.uniprot.org/uniprot/Q9HC84 https://hpo.jax.org/app/browse/search?q=MUC5B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600770 http://www.informatics.jax.org/searchtool/Search.do?query=MUC5B&submit=Quick%0D%4933ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC5B rs2943531 0 0.6740 0.7851 0.08 1 12 exonic exonic exonic MUC5B MUC5B ENSG00000117983 nonsynonymous SNV nonsynonymous SNV unknown MUC5B:NM_002458:exon31:c.A9850G:p.T3284A, MUC5B:uc001lta.3:exon31:c.A9850G:p.T3284A, UNKNOWN Het;A>G 3023;294|140 Hom;A>G 6277;2|185 N N - 11 18267027 18267027 C T snp nonsynonymous SNV G266A R89H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) SAA2 Saa2 ENSG00000134339 serum amyloid A2 chr11:18260770-18270190 Aging/ Telomere Length; Mental Disorders; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; Cardiovascular Diseases; Tobacco Use Disorder; cognitive trait; amyloidosis; Familial Mediterranean Fever The CE/J strain produces a mutant form of Saa2 and is not susceptible to amyloidosis, as are mice of most other inbred strains. M. caroli, M. spretus and M.m. Czech produce variant Saa2 isoforms and M.m. Czech is also reistant to amyloidosis. GO:0006953;acute-phase response;IEA|GO:0050918;positive chemotaxis;IEA|GO:0060326;cell chemotaxis;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0034364;high-density lipoprotein particle;IEA|GO:0070062;extracellular exosome;IDA GO:0042056;chemoattractant activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SAA2 https://www.uniprot.org/uniprot/P0DJI9 https://www.ncbi.nlm.nih.gov/omim/?term=104751 http://www.informatics.jax.org/searchtool/Search.do?query=SAA2&submit=Quick%0D%6964ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAA2 rs2468844 0.770966 0.7999 0.8314 0.20 2 10 exonic exonic exonic SAA2 SAA2 ENSG00000134339 nonsynonymous SNV nonsynonymous SNV unknown SAA2:NM_030754:exon4:c.G266A:p.R89H, SAA2:uc001mnz.4:exon4:c.G266A:p.R89H, UNKNOWN Het;C>T 1918;81|87 Hom;C>T 3513;0|133 N N - 11 18728650 18728650 T C snp nonsynonymous SNV A3391G I1131V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral IGSF22 ENSG00000179057 immunoglobulin superfamily member 22 chr11:18725852-18747777 GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IGSF22 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22 rs2289965 0.189097 0.3003 0.2593 0.08 1 12 exonic exonic exonic IGSF22 IGSF22 ENSG00000179057 nonsynonymous SNV nonsynonymous SNV unknown IGSF22:NM_173588:exon21:c.A3391G:p.I1131V, IGSF22:uc009yht.2:exon21:c.A3391G:p.I1131V, UNKNOWN Het;T>C 700;66|36 Hom;T>C 2205;0|82 N N - 11 18737095 18737095 C T snp nonsynonymous SNV G1415A R472Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral IGSF22 ENSG00000179057 immunoglobulin superfamily member 22 chr11:18725852-18747777 GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IGSF22 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22 rs4424652 0.749401 0.7576 0.7349 0.23 3 13 exonic exonic exonic IGSF22 IGSF22 ENSG00000179057 nonsynonymous SNV nonsynonymous SNV unknown IGSF22:NM_173588:exon11:c.G1415A:p.R472Q, IGSF22:uc009yht.2:exon11:c.G1415A:p.R472Q, UNKNOWN Het;C>T 1857;119|94 Hom;C>T 4759;1|181 N N - 11 18738281 18738281 C T snp nonsynonymous SNV G1240A V414I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral IGSF22 ENSG00000179057 immunoglobulin superfamily member 22 chr11:18725852-18747777 GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IGSF22 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22 rs10766494 0.749002 0.7605 0.7349 0.23 3 13 exonic exonic exonic IGSF22 IGSF22 ENSG00000179057 nonsynonymous SNV nonsynonymous SNV unknown IGSF22:NM_173588:exon10:c.G1240A:p.V414I, IGSF22:uc009yht.2:exon10:c.G1240A:p.V414I, UNKNOWN Het;C>T 403;26|21 Hom;C>T 1126;0|41 N N - 11 20622975 20622975 G A snp nonsynonymous SNV G304A G102S aliphatic,neutral polar,hydrophilic,neutral SLC6A5 Slc6a5 ENSG00000165970 solute carrier family 6 member 5 chr11:20620946-20680831 This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] several psychiatric disorders; Hyperparathyroidism, Secondary; alcohol; schizophrenia; Hemoglobin A, Glycosylated Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth. Na+/Cl- dependent neurotransmitter transporters GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0015816;glycine transport;IEA|GO:0036233;glycine import;IDA|GO:0055085;transmembrane transport;IEA|GO:0060012;synaptic transmission, glycinergic;IMP GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015187;glycine transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015375;glycine:sodium symporter activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A5 https://hpo.jax.org/app/browse/search?q=SLC6A5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604159 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A5&submit=Quick%0D%11667ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A5 rs1443547 0.405751 0.3694 0.4067 0.08 1 13 exonic exonic exonic SLC6A5 SLC6A5 ENSG00000165970 nonsynonymous SNV nonsynonymous SNV unknown SLC6A5:NM_004211:exon2:c.G304A:p.G102S, SLC6A5:uc001mqd.3:exon2:c.G304A:p.G102S, UNKNOWN Het;G>A 1086;50|49 Hom;G>A 2608;0|97 N N - 11 3249984 3249984 C T snp nonsynonymous SNV G46A G16S aliphatic,neutral polar,hydrophilic,neutral MRGPRE Mrgpre ENSG00000184350 MAS related GPR family member E chr11:3248928-3253616 Mice homozygous for a knock-out allele exhibit alterations in the development but not maintenance of allodynia. GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MRGPRE https://www.ncbi.nlm.nih.gov/omim/?term=607232 http://www.informatics.jax.org/searchtool/Search.do?query=MRGPRE&submit=Quick%0D%15188ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRGPRE rs12295710 0.33147 0.3616 0.4253 0.09 1 11 exonic exonic exonic MRGPRE MRGPRE ENSG00000184350 nonsynonymous SNV nonsynonymous SNV unknown MRGPRE:NM_001039165:exon2:c.G46A:p.G16S, MRGPRE:uc001lxq.5:exon2:c.G46A:p.G16S,MRGPRE:uc021qcj.1:exon1:c.G43A:p.G15S, UNKNOWN Het;C>T 929;51|46 Hom;C>T 2070;0|76 N N - 11 35226155 35226155 A G snp nonsynonymous SNV A1121G K374R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) CD44 Cd44 ENSG00000026508 CD44 molecule (Indian blood group) chr11:35160417-35253949 The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008] Hemoglobin A, Glycosylated; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Chronic renal failure|Kidney Failure, Chronic; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Hepatitis B; Congenital Heart Defects|Heart Defects, Congenital; Type 2 Diabetes| edema | rosiglitazone; ovarian cancer; Lupus; arthritis; breast cancer; Stroke; Drug-Induced Liver Injury| Homozygotes for targeted null mutations exhibit impaired T lymphocyte trafficking resulting in muted inflammatory responses, altered myeloid progenitor distribution, reduced growth of tumors, and impaired uterine involution and maintenance of lactation. Interferon gamma signaling GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030214;hyaluronan catabolic process;TAS|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033674;positive regulation of kinase activity;IDA|GO:0034116;positive regulation of heterotypic cell-cell adhesion;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050900;leukocyte migration;TAS|GO:0051216;cartilage development;IEP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0070487;monocyte aggregation;IMP|GO:1900625;positive regulation of monocyte aggregation;IMP|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0035692;macrophage migration inhibitory factor receptor complex;IDA|GO:0070062;extracellular exosome;IDA GO:0004896;cytokine receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;NAS|GO:0005540;hyaluronic acid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CD44 https://www.uniprot.org/uniprot/P16070 https://www.ncbi.nlm.nih.gov/omim/?term=107269 http://www.informatics.jax.org/searchtool/Search.do?query=CD44&submit=Quick%0D%710ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD44 rs9666607 0.830272 0.7524 0.7478 0.08 1 13 exonic exonic exonic CD44 CD44 ENSG00000026508 nonsynonymous SNV nonsynonymous SNV unknown CD44:NM_001001389:exon9:c.A1121G:p.K374R,CD44:NM_000610:exon10:c.A1250G:p.K417R, CD44:uc001mvu.3:exon10:c.A1250G:p.K417R,CD44:uc001mvv.3:exon9:c.A1121G:p.K374R, UNKNOWN Het;A>G 1132;70|58 Hom;A>G 2924;0|105 N N - 11 36422792 36422792 G A snp nonsynonymous SNV G121A A41T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral PRR5L Prr5l ENSG00000135362 proline rich 5 like chr11:36317838-36486754 Acquired Immunodeficiency Syndrome|Disease Progression; Creatinine; Alcoholism GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0010762;regulation of fibroblast migration;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0034599;cellular response to oxidative stress;IMP|GO:0038203;TORC2 signaling;IDA|GO:0061014;positive regulation of mRNA catabolic process;IMP|GO:0090316;positive regulation of intracellular protein transport;IMP GO:0005739;mitochondrion;IEA|GO:0031932;TORC2 complex;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRR5L https://www.uniprot.org/uniprot/Q6MZQ0 https://www.ncbi.nlm.nih.gov/omim/?term=611728 http://www.informatics.jax.org/searchtool/Search.do?query=PRR5L&submit=Quick%0D%7131ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR5L rs330261 0.833666 0.8198 0.8907 0.15 2 13 exonic exonic exonic PRR5L PRR5L ENSG00000135362 nonsynonymous SNV nonsynonymous SNV unknown PRR5L:NM_001160169:exon1:c.G121A:p.A41T,PRR5L:NM_001160167:exon2:c.G121A:p.A41T,PRR5L:NM_024841:exon3:c.G121A:p.A41T, PRR5L:uc001mwp.3:exon3:c.G121A:p.A41T,PRR5L:uc001mwo.4:exon2:c.G121A:p.A41T,PRR5L:uc010rfc.2:exon1:c.G121A:p.A41T, UNKNOWN Het;G>A 763;31|40 Hom;G>A 1135;0|40 N N - 11 4608542 4608542 C T snp nonsynonymous SNV C500T T167M polar,hydrophilic,neutral hydrophobic,neutral OR52I2 Olfr556 ENSG00000226288 olfactory receptor family 52 subfamily I member 2 chr11:4608021-4609135 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR52I2 http://www.informatics.jax.org/searchtool/Search.do?query=OR52I2&submit=Quick%0D%18679ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52I2 rs1847632 0.411542 0.2790 0.3486 0.62 8 13 exonic exonic exonic OR52I2 OR52I2 ENSG00000226288 nonsynonymous SNV nonsynonymous SNV unknown OR52I2:NM_001005170:exon1:c.C500T:p.T167M, OR52I2:uc010qyh.2:exon1:c.C500T:p.T167M, UNKNOWN Het;C>T 2278;129|113 Hom;C>T 5694;4|220 N N - 11 46890165 46890165 C T snp nonsynonymous SNV G4937A R1646Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral LRP4 Lrp4 ENSG00000134569 LDL receptor related protein 4 chr11:46878419-46940193 This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010] Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure. ECM proteoglycans GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP4 https://www.uniprot.org/uniprot/O75096 https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604270 http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4 rs3816614 0.579673 0.6601 0.6847 0.23 3 13 exonic exonic exonic LRP4 LRP4 ENSG00000134569 nonsynonymous SNV nonsynonymous SNV unknown LRP4:NM_002334:exon33:c.G4937A:p.R1646Q, LRP4:uc001ndn.4:exon33:c.G4937A:p.R1646Q, UNKNOWN Het;C>T 1579;52|72 Hom;C>T 2510;0|93 N N - 11 46893108 46893108 T C snp nonsynonymous SNV A4660G S1554G polar,hydrophilic,neutral aliphatic,neutral LRP4 Lrp4 ENSG00000134569 LDL receptor related protein 4 chr11:46878419-46940193 This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010] Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure. ECM proteoglycans GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP4 https://www.uniprot.org/uniprot/O75096 https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604270 http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4 rs2306029 0.367612 0.4253 0.4942 0.62 8 13 exonic exonic exonic LRP4 LRP4 ENSG00000134569 nonsynonymous SNV nonsynonymous SNV unknown LRP4:NM_002334:exon31:c.A4660G:p.S1554G, LRP4:uc001ndn.4:exon31:c.A4660G:p.S1554G, UNKNOWN Het;T>C 923;39|43 Hom;T>C 1806;0|69 N N - 11 46898771 46898771 T C snp nonsynonymous SNV A3256G I1086V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LRP4 Lrp4 ENSG00000134569 LDL receptor related protein 4 chr11:46878419-46940193 This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010] Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Osteoporosis; Bone mineral density (hip); Fractures, Bone; fibrin fragment D; Fractures, Bone|Wounds and Injuries Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure. ECM proteoglycans GO:0001822;kidney development;IDA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0001942;hair follicle development;IEA|GO:0006897;endocytosis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008104;protein localization;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030279;negative regulation of ossification;IMP|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043113;receptor clustering;IEA|GO:0044332;Wnt signaling pathway involved in dorsal/ventral axis specification;IBA|GO:0048513;animal organ development;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0048856;anatomical structure development;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050771;negative regulation of axonogenesis;IEA|GO:0050808;synapse organization;IEA|GO:0051124;synaptic growth at neuromuscular junction;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0060173;limb development;IDA|GO:0060828;regulation of canonical Wnt signaling pathway;IEA|GO:0071340;skeletal muscle acetylcholine-gated channel clustering;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097104;postsynaptic membrane assembly;IEA|GO:0097105;presynaptic membrane assembly;IEA|GO:1901631;positive regulation of presynaptic membrane organization;IEA|GO:1904395;positive regulation of skeletal muscle acetylcholine-gated channel clustering;IEA GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016600;flotillin complex;IEA|GO:0030425;dendrite;IEA|GO:0031594;neuromuscular junction;IEA|GO:0043025;neuronal cell body;IEA|GO:0043235;receptor complex;IBA|GO:0097060;synaptic membrane;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;IBA|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042813;Wnt-activated receptor activity;IBA|GO:0097110;scaffold protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP4 https://www.uniprot.org/uniprot/O75096 https://hpo.jax.org/app/browse/search?q=LRP4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604270 http://www.informatics.jax.org/searchtool/Search.do?query=LRP4&submit=Quick%0D%7000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP4 rs6485702 0.445887 0.5162 0.5849 0.31 4 13 exonic exonic exonic LRP4 LRP4 ENSG00000134569 nonsynonymous SNV nonsynonymous SNV unknown LRP4:NM_002334:exon23:c.A3256G:p.I1086V, LRP4:uc001ndn.4:exon23:c.A3256G:p.I1086V, UNKNOWN Het;T>C 1670;89|73 Hom;T>C 4347;0|155 N N - 11 4976788 4976788 C A snp nonsynonymous SNV G156T K52N polar,hydrophilic,charged(+) polar,hydrophilic,neutral OR51A2 ENSG00000205496 chr11:4976002-4976943 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Body Mass Index Olfactory Signaling Pathway GO:0007165;signal transduction;IBA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR51A2 http://www.informatics.jax.org/searchtool/Search.do?query=OR51A2&submit=Quick%0D%17524ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR51A2 rs35318834 0.0736821 0.0776 0.0963 0.33 4 12 exonic exonic exonic OR51A2 OR51A2 ENSG00000205496 nonsynonymous SNV nonsynonymous SNV unknown OR51A2:NM_001004748:exon1:c.G156T:p.K52N, OR51A2:uc010qyt.2:exon1:c.G156T:p.K52N, UNKNOWN Het;C>A 2696;13|112 Hom;C>A 2605;7|112 N N - 11 5602438 5602438 T A snp nonsynonymous SNV T332A L111H aliphatic,hydrophobic,neutral aromatic,polar,hydrophilic,charged(+) OR52B6 Olfr618 ENSG00000187747 olfactory receptor family 52 subfamily B member 6 chr11:5602107-5603114 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Body Height; Forced Vital Capacity Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR52B6 http://www.informatics.jax.org/searchtool/Search.do?query=OR52B6&submit=Quick%0D%15886ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52B6 rs2341432 0.715056 0.5459 0.5745 0.08 1 13 exonic exonic exonic OR52B6 OR52B6 ENSG00000187747 nonsynonymous SNV nonsynonymous SNV unknown OR52B6:NM_001005162:exon1:c.T332A:p.L111H, OR52B6:uc010qzi.2:exon1:c.T332A:p.L111H, UNKNOWN Het;T>A 1782;82|79 Hom;T>A 4293;1|152 N N - 11 5602615 5602615 A G snp nonsynonymous SNV A509G H170R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) OR52B6 Olfr618 ENSG00000187747 olfactory receptor family 52 subfamily B member 6 chr11:5602107-5603114 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Body Height; Forced Vital Capacity Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR52B6 http://www.informatics.jax.org/searchtool/Search.do?query=OR52B6&submit=Quick%0D%15886ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52B6 rs2341434 0.716653 0.5453 0.5746 0.15 2 13 exonic exonic exonic OR52B6 OR52B6 ENSG00000187747 nonsynonymous SNV nonsynonymous SNV unknown OR52B6:NM_001005162:exon1:c.A509G:p.H170R, OR52B6:uc010qzi.2:exon1:c.A509G:p.H170R, UNKNOWN Het;A>G 4064;174|110 Hom;A>G 8870;3|242 N N - 11 5602968 5602968 G A snp nonsynonymous SNV G862A V288I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR52B6 Olfr618 ENSG00000187747 olfactory receptor family 52 subfamily B member 6 chr11:5602107-5603114 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Body Height; Forced Vital Capacity Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR52B6 http://www.informatics.jax.org/searchtool/Search.do?query=OR52B6&submit=Quick%0D%15886ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR52B6 rs10769086 0.894569 0.8167 0.8101 0.08 1 13 exonic exonic exonic OR52B6 OR52B6 ENSG00000187747 nonsynonymous SNV nonsynonymous SNV unknown OR52B6:NM_001005162:exon1:c.G862A:p.V288I, OR52B6:uc010qzi.2:exon1:c.G862A:p.V288I, UNKNOWN Het;G>A 1461;117|76 Hom;G>A 4197;0|150 N N - 11 56086147 56086147 T G snp nonsynonymous SNV T365G L122R aliphatic,hydrophobic,neutral polar,hydrophilic,charged(+) OR8K3 Olfr1054 ENSG00000280314 olfactory receptor family 8 subfamily K member 3 (gene/pseudogene) chr11:56085783-56086721 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR8K3 http://www.informatics.jax.org/searchtool/Search.do?query=OR8K3&submit=Quick%0D%22204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR8K3 rs960193 0.785543 0.6816 0.7218 0.08 1 13 exonic exonic exonic OR8K3 OR8K3 ENSG00000181689 nonsynonymous SNV nonsynonymous SNV unknown OR8K3:NM_001005202:exon1:c.T365G:p.L122R, OR8K3:uc010rjf.2:exon1:c.T365G:p.L122R, UNKNOWN Het;T>G 2698;105|120 Hom;T>G 6039;0|215 N N - 11 56113516 56113516 T C snp nonsynonymous SNV T2C M1T hydrophobic,neutral polar,hydrophilic,neutral OR8K1 Olfr1046 ENSG00000263328 olfactory receptor family 8 subfamily K member 1 chr11:56113421-56114507 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR8K1 https://www.uniprot.org/uniprot/Q8NGG5 http://www.informatics.jax.org/searchtool/Search.do?query=OR8K1&submit=Quick%0D%20566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR8K1 rs1905055 0.779952 0.6790 0.7243 0.18 2 11 exonic exonic exonic OR8K1 OR8K1 ENSG00000150261 nonsynonymous SNV nonsynonymous SNV unknown OR8K1:NM_001002907:exon1:c.T2C:p.M1T, OR8K1:uc010rjg.2:exon1:c.T2C:p.M1T, UNKNOWN Het;T>C 822;37|29 Hom;T>C 2052;0|67 N N - 11 56756664 56756664 G A snp nonsynonymous SNV G276A M92I hydrophobic,neutral aliphatic,hydrophobic,neutral OR5AK2 Olfr993 ENSG00000181273 olfactory receptor family 5 subfamily AK member 2 chr11:56756347-56757342 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR5AK2 http://www.informatics.jax.org/searchtool/Search.do?query=OR5AK2&submit=Quick%0D%14599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR5AK2 rs2853083 0.709465 0.6982 0.6355 0.08 1 13 exonic exonic exonic OR5AK2 OR5AK2 ENSG00000181273 nonsynonymous SNV nonsynonymous SNV unknown OR5AK2:NM_001005323:exon1:c.G276A:p.M92I, OR5AK2:uc010rjp.2:exon1:c.G276A:p.M92I, UNKNOWN Het;G>A 550;23|20 Hom;G>A 1241;0|41 N N - 11 58190136 58190136 A G snp nonsynonymous SNV T599C M200T hydrophobic,neutral polar,hydrophilic,neutral OR5B2 ENSG00000172365 olfactory receptor family 5 subfamily B member 2 chr11:58189738-58190786 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR5B2 http://www.informatics.jax.org/searchtool/Search.do?query=OR5B2&submit=Quick%0D%13144ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR5B2 rs4298923 0.491414 0.5003 0.4458 0.33 4 12 exonic exonic exonic OR5B2 OR5B2 ENSG00000172365 nonsynonymous SNV nonsynonymous SNV unknown OR5B2:NM_001005566:exon1:c.T599C:p.M200T, OR5B2:uc010rkg.2:exon1:c.T599C:p.M200T, UNKNOWN Het;A>G 745;33|34 Hom;A>G 2137;0|79 N N - 11 59940599 59940599 T A snp nonsynonymous SNV A553T T185S polar,hydrophilic,neutral polar,hydrophilic,neutral MS4A6A Ms4a6d ENSG00000110077 membrane spanning 4-domains A6A chr11:59939081-59952139 This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011] esophageal adenocarcinoma; Magnesium; Alzheimer Disease GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MS4A6A https://www.uniprot.org/uniprot/Q9H2W1 https://www.ncbi.nlm.nih.gov/omim/?term=606548 http://www.informatics.jax.org/searchtool/Search.do?query=MS4A6A&submit=Quick%0D%3925ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A6A rs7232 0.214058 0.2777 0.3131 0.17 2 12 exonic exonic exonic MS4A6A MS4A6A ENSG00000110077 nonsynonymous SNV nonsynonymous SNV unknown MS4A6A:NM_022349:exon6:c.A553T:p.T185S,MS4A6A:NM_152852:exon7:c.A553T:p.T185S,MS4A6A:NM_001247999:exon7:c.A637T:p.T213S,MS4A6A:NM_152851:exon6:c.A449T:p.N150I, MS4A6A:uc010rla.2:exon7:c.A637T:p.T213S,MS4A6A:uc009ymv.3:exon7:c.A553T:p.T185S,MS4A6A:uc001not.3:exon6:c.A553T:p.T185S,MS4A6A:uc001noq.3:exon6:c.A449T:p.N150I,MS4A6A:uc010rlb.2:exon5:c.A418T:p.T140S, UNKNOWN Het;T>A 1385;48|61 Hom;T>A 2602;0|100 N N - 11 60182970 60182970 A T snp nonsynonymous SNV A529T N177Y polar,hydrophilic,neutral aromatic,polar,hydrophobic MS4A14 Ms4a14 ENSG00000166928 membrane spanning 4-domains A14 chr11:60146003-60185161 monocyte chemoattractant protein 1 (66-77) GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MS4A14 http://www.informatics.jax.org/searchtool/Search.do?query=MS4A14&submit=Quick%0D%11911ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MS4A14 rs7131283 0.577875 0.6403 0.6490 0.42 5 12 exonic exonic exonic MS4A14 MS4A14 ENSG00000166928 nonsynonymous SNV nonsynonymous SNV unknown MS4A14:NM_032597:exon5:c.A529T:p.N177Y,MS4A14:NM_001079692:exon4:c.A478T:p.N160Y,MS4A14:NM_001261828:exon6:c.A628T:p.N210Y,MS4A14:NM_001261827:exon5:c.A577T:p.N193Y, MS4A14:uc001npi.3:exon3:c.A193T:p.N65Y,MS4A14:uc001npk.3:exon4:c.A478T:p.N160Y,MS4A14:uc031qbd.1:exon6:c.A628T:p.N210Y,MS4A14:uc031qbe.1:exon5:c.A577T:p.N193Y,MS4A14:uc001npj.3:exon5:c.A529T:p.N177Y, UNKNOWN Het;A>T 992;56|50 Hom;A>T 2470;0|92 N N - 11 60892606 60892606 A G snp nonsynonymous SNV A1382G H461R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) CD5 Cd5 ENSG00000110448 CD5 molecule chr11:60869867-60895324 leukemia; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Multiple Myeloma; benzene haematotoxicity; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome Homozygous mutation of this gene does not result in a phenotype. GO:0006898;receptor-mediated endocytosis;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0031295;T cell costimulation;IEA|GO:0097190;apoptotic signaling pathway;IEA GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;NAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;NAS|GO:0004888;transmembrane signaling receptor activity;NAS|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CD5 https://www.uniprot.org/uniprot/P06127 https://www.ncbi.nlm.nih.gov/omim/?term=153340 http://www.informatics.jax.org/searchtool/Search.do?query=CD5&submit=Quick%0D%3964ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD5 rs637186 0.967851 0.9366 0.9380 0.15 2 13 exonic exonic exonic CD5 CD5 ENSG00000110448 nonsynonymous SNV nonsynonymous SNV unknown CD5:NM_014207:exon9:c.A1382G:p.H461R, CD5:uc009ynk.3:exon9:c.A1382G:p.H461R, UNKNOWN Het;A>G 1413;72|69 Hom;A>G 3256;1|124 N N - 11 60899767 60899767 A G snp nonsynonymous SNV T593C L198S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral VPS37C Vps37c ENSG00000167987 VPS37C, ESCRT-I subunit chr11:60897728-60929089 VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM, Mar 2008] benzene haematotoxicity; Tobacco Use Disorder Endosomal Sorting Complex Required For Transport (ESCRT) GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;TAS|GO:0075733;intracellular transport of virus;TAS GO:0000813;ESCRT I complex;TAS|GO:0005768;endosome;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/VPS37C https://www.ncbi.nlm.nih.gov/omim/?term=610038 http://www.informatics.jax.org/searchtool/Search.do?query=VPS37C&submit=Quick%0D%12164ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS37C rs754382 0.853235 0.7287 0.7566 0.08 1 13 exonic exonic exonic VPS37C VPS37C ENSG00000167987 nonsynonymous SNV nonsynonymous SNV unknown VPS37C:NM_017966:exon5:c.T593C:p.L198S, VPS37C:uc001nqv.1:exon5:c.T593C:p.L198S, UNKNOWN Het;A>G 1763;74|81 Hom;A>G 4142;0|139 N N - 11 61524974 61524974 G A snp nonsynonymous SNV C83T P28L hydrophobic,neutral aliphatic,hydrophobic,neutral DKFZP434K028 rs198460 0.438898 0 0.4826 1 0 0 ncRNA_exonic exonic ncRNA_exonic DKFZP434K028 DKFZP434K028 ENSG00000124915 Na nonsynonymous SNV Na Na DKFZP434K028:uc001nsd.3:exon1:c.C83T:p.P28L, Na Het;G>A 895;61|45 Hom;G>A 2240;0|79 N N - 11 64597506 64597506 T C snp nonsynonymous SNV A3404G Q1135R polar,hydrophilic,neutral polar,hydrophilic,charged(+) CDC42BPG Cdc42bpg ENSG00000171219 CDC42 binding protein kinase gamma chr11:64590859-64612041 Pancreatic Neoplasms; Leprosy GO:0006468;protein phosphorylation;IDA|GO:0016310;phosphorylation;IEA|GO:0031532;actin cytoskeleton reorganization;ISS|GO:0035556;intracellular signal transduction;IEA GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;IDA|GO:0031252;cell leading edge;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDC42BPG https://www.ncbi.nlm.nih.gov/omim/?term=613991 http://www.informatics.jax.org/searchtool/Search.do?query=CDC42BPG&submit=Quick%0D%12881ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC42BPG rs3741395 0.316494 0.5069 0.4735 0.15 2 13 exonic exonic exonic CDC42BPG CDC42BPG ENSG00000171219 nonsynonymous SNV nonsynonymous SNV unknown CDC42BPG:NM_017525:exon30:c.A3404G:p.Q1135R, CDC42BPG:uc001obs.4:exon30:c.A3404G:p.Q1135R, UNKNOWN Het;T>C 963;75|49 Hom;T>C 2888;2|107 N N - 11 6519642 6519642 G A snp nonsynonymous SNV G197A R66Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral DNHD1 Dnhd1 ENSG00000179532 dynein heavy chain domain 1 chr11:6518490-6614988 Tobacco Use Disorder GO:0007018;microtubule-based movement;IEA GO:0030286;dynein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003777;microtubule motor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNHD1 https://www.ncbi.nlm.nih.gov/omim/?term=617277 http://www.informatics.jax.org/searchtool/Search.do?query=DNHD1&submit=Quick%0D%14351ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNHD1 rs11604149 0.380591 0.4641 0.4614 0.08 1 13 exonic exonic exonic DNHD1 DNHD1 ENSG00000179532 nonsynonymous SNV nonsynonymous SNV unknown DNHD1:NM_144666:exon3:c.G197A:p.R66Q,DNHD1:NM_173589:exon2:c.G197A:p.R66Q, DNHD1:uc001mdw.4:exon3:c.G197A:p.R66Q,DNHD1:uc001mdp.3:exon2:c.G197A:p.R66Q, UNKNOWN Het;G>A 967;47|45 Hom;G>A 2116;0|77 N N - 11 6532519 6532519 C T snp nonsynonymous SNV C1252T H418Y aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophobic DNHD1 Dnhd1 ENSG00000179532 dynein heavy chain domain 1 chr11:6518490-6614988 Tobacco Use Disorder GO:0007018;microtubule-based movement;IEA GO:0030286;dynein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003777;microtubule motor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNHD1 https://www.ncbi.nlm.nih.gov/omim/?term=617277 http://www.informatics.jax.org/searchtool/Search.do?query=DNHD1&submit=Quick%0D%14351ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNHD1 rs4758423 0.220447 0.2744 0.2929 0.23 3 13 exonic exonic exonic DNHD1 DNHD1 ENSG00000179532 nonsynonymous SNV nonsynonymous SNV unknown DNHD1:NM_144666:exon7:c.C1252T:p.H418Y,DNHD1:NM_173589:exon6:c.C1252T:p.H418Y, DNHD1:uc001mdw.4:exon7:c.C1252T:p.H418Y,DNHD1:uc001mdq.3:exon3:c.C319T:p.H107Y,DNHD1:uc001mdp.3:exon6:c.C1252T:p.H418Y, UNKNOWN Het;C>T 1151;54|56 Hom;C>T 3163;0|114 N N - 11 6585007 6585007 G A snp nonsynonymous SNV G9937A D3313N polar,hydrophilic,charged(-) polar,hydrophilic,neutral DNHD1 Dnhd1 ENSG00000179532 dynein heavy chain domain 1 chr11:6518490-6614988 Tobacco Use Disorder GO:0007018;microtubule-based movement;IEA GO:0030286;dynein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003777;microtubule motor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNHD1 https://www.ncbi.nlm.nih.gov/omim/?term=617277 http://www.informatics.jax.org/searchtool/Search.do?query=DNHD1&submit=Quick%0D%14351ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNHD1 rs11040923 0.435703 0.3822 0.4973 0.08 1 12 exonic exonic exonic DNHD1 DNHD1 ENSG00000179532 nonsynonymous SNV nonsynonymous SNV unknown DNHD1:NM_144666:exon31:c.G9937A:p.D3313N, DNHD1:uc001mdw.4:exon31:c.G9937A:p.D3313N, UNKNOWN Het;G>A 638;33|32 Hom;G>A 1667;0|57 N N - 11 66512290 66512290 G GGGC indel nonframeshift substitution 77_77delinsGGGC C11orf80 Gm960 ENSG00000173715 chromosome 11 open reading frame 80 chr11:66511922-66610987 Bipolar Disorder Mice homozygous for a knock-out allele exhibit impaired double-strand break formation that imapires female and male meiosis and results in no spermatids and reduced primary and primordial follicle numbers. GO:0007131;reciprocal meiotic recombination;ISS|GO:0042138;meiotic DNA double-strand break formation;IEA|GO:0051321;meiotic cell cycle;IEA GO:0005694;chromosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/C11orf80 https://www.ncbi.nlm.nih.gov/omim/?term=616109 http://www.informatics.jax.org/searchtool/Search.do?query=C11orf80&submit=Quick%0D%13417ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C11orf80 rs567536854 0 0.3517 0.5978 1 0 0 exonic exonic exonic C11orf80 C11orf80 ENSG00000173715 nonframeshift substitution nonframeshift substitution unknown C11orf80:NM_024650:exon1:c.77_77delinsGGGC, C11orf80:uc021qmd.1:exon1:c.77_77delinsGGGC, UNKNOWN Het;+GGC 414;2|11 Hom;+GGC 548;0|14 N N - 11 67288594 67288594 C T snp nonsynonymous SNV G281A R94Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral CABP2 Cabp2 ENSG00000167791 calcium binding protein 2 chr11:67286383-67290899 This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] Neuroblastoma Homozygous knockout affects calcium channels in cochlear inner hair cell synapses, resulting in hearing impairment. It also affects transmission of responses to light through the retinal circuits. GO:0007165;signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005509;calcium ion binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CABP2 https://hpo.jax.org/app/browse/search?q=CABP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607314 http://www.informatics.jax.org/searchtool/Search.do?query=CABP2&submit=Quick%0D%12119ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CABP2 rs2276118 0.429712 0.4186 0.5289 0.31 4 13 exonic exonic exonic CABP2 CABP2 ENSG00000167791 nonsynonymous SNV nonsynonymous SNV unknown CABP2:NM_016366:exon4:c.G281A:p.R94Q, CABP2:uc001omc.1:exon4:c.G281A:p.R94Q,CABP2:uc001ome.1:exon4:c.G299A:p.R100Q, UNKNOWN Het;C>T 1551;87|78 Hom;C>T 4495;0|169 N N - 11 7022160 7022160 A G snp nonsynonymous SNV T754C C252R polar,hydrophobic,neutral polar,hydrophilic,charged(+) ZNF214 ENSG00000149050 zinc finger protein 214 chr11:7020549-7041599 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF214 https://www.uniprot.org/uniprot/Q9UL59 https://www.ncbi.nlm.nih.gov/omim/?term=605015 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF214&submit=Quick%0D%9185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF214 rs2857919 0.909545 0.8935 0.9512 0.23 3 13 exonic exonic exonic ZNF214 ZNF214 ENSG00000149050 nonsynonymous SNV nonsynonymous SNV unknown ZNF214:NM_013249:exon3:c.T754C:p.C252R, ZNF214:uc010ray.1:exon4:c.T754C:p.C252R,ZNF214:uc001mfa.2:exon3:c.T754C:p.C252R,ZNF214:uc009yfh.1:exon3:c.T754C:p.C252R, UNKNOWN Het;A>G 1517;58|69 Hom;A>G 3975;0|138 N N - 11 7022531 7022531 A T snp nonsynonymous SNV T383A L128H aliphatic,hydrophobic,neutral aromatic,polar,hydrophilic,charged(+) ZNF214 ENSG00000149050 zinc finger protein 214 chr11:7020549-7041599 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF214 https://www.uniprot.org/uniprot/Q9UL59 https://www.ncbi.nlm.nih.gov/omim/?term=605015 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF214&submit=Quick%0D%9185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF214 rs1156525 0.575679 0.5546 0.6266 0.08 1 13 exonic exonic exonic ZNF214 ZNF214 ENSG00000149050 nonsynonymous SNV nonsynonymous SNV unknown ZNF214:NM_013249:exon3:c.T383A:p.L128H, ZNF214:uc010ray.1:exon4:c.T383A:p.L128H,ZNF214:uc001mfa.2:exon3:c.T383A:p.L128H,ZNF214:uc009yfh.1:exon3:c.T383A:p.L128H, UNKNOWN Het;A>T 1182;44|54 Hom;A>T 3265;0|119 N N - 11 7022717 7022717 T C snp nonsynonymous SNV A197G Y66C aromatic,polar,hydrophobic polar,hydrophobic,neutral ZNF214 ENSG00000149050 zinc finger protein 214 chr11:7020549-7041599 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF214 https://www.uniprot.org/uniprot/Q9UL59 https://www.ncbi.nlm.nih.gov/omim/?term=605015 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF214&submit=Quick%0D%9185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF214 rs1156526 0.592652 0.5500 0.6323 0.08 1 13 exonic exonic exonic ZNF214 ZNF214 ENSG00000149050 nonsynonymous SNV nonsynonymous SNV unknown ZNF214:NM_013249:exon3:c.A197G:p.Y66C, ZNF214:uc010ray.1:exon4:c.A197G:p.Y66C,ZNF214:uc001mfa.2:exon3:c.A197G:p.Y66C,ZNF214:uc009yfh.1:exon3:c.A197G:p.Y66C, UNKNOWN Het;T>C 641;38|30 Hom;T>C 2120;0|73 N N - 11 7079038 7079038 G A snp nonsynonymous SNV G2422A E808K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) NLRP14 Nlrp14 ENSG00000158077 NLR family pyrin domain containing 14 chr11:7041677-7092539 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; Crohn Disease|Crohn's disease GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP14 https://www.uniprot.org/uniprot/Q86W24 https://www.ncbi.nlm.nih.gov/omim/?term=609665 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP14&submit=Quick%0D%191ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP14 rs10839708 0.565895 0.5112 0.6051 0.46 6 13 exonic exonic exonic NLRP14 NLRP14 ENSG00000158077 nonsynonymous SNV nonsynonymous SNV unknown NLRP14:NM_176822:exon7:c.G2422A:p.E808K, NLRP14:uc001mfb.1:exon7:c.G2422A:p.E808K, UNKNOWN Het;G>A 1238;74|66 Hom;G>A 2820;0|105 N N - 11 7949791 7949791 A C snp nonsynonymous SNV T419G V140G aliphatic,hydrophobic,neutral aliphatic,neutral OR10A6 Olfr519 ENSG00000280899 olfactory receptor family 10 subfamily A member 6 (gene/pseudogene) chr11:7949180-7950209 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR10A6 http://www.informatics.jax.org/searchtool/Search.do?query=OR10A6&submit=Quick%0D%22251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10A6 rs7933807 0.413139 0.3774 0.4174 0.38 5 13 exonic exonic exonic OR10A6 OR10A6 ENSG00000175393 nonsynonymous SNV nonsynonymous SNV unknown OR10A6:NM_001004461:exon1:c.T419G:p.V140G, OR10A6:uc010rbh.2:exon1:c.T419G:p.V140G, UNKNOWN Het;A>C 1502;80|65 Hom;A>C 4602;0|162 N N - 11 7949860 7949860 G A snp nonsynonymous SNV C350T A117V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR10A6 Olfr519 ENSG00000280899 olfactory receptor family 10 subfamily A member 6 (gene/pseudogene) chr11:7949180-7950209 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR10A6 http://www.informatics.jax.org/searchtool/Search.do?query=OR10A6&submit=Quick%0D%22251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10A6 rs7928451 0.394369 0.3607 0.4113 0.08 1 13 exonic exonic exonic OR10A6 OR10A6 ENSG00000175393 nonsynonymous SNV nonsynonymous SNV unknown OR10A6:NM_001004461:exon1:c.C350T:p.A117V, OR10A6:uc010rbh.2:exon1:c.C350T:p.A117V, UNKNOWN Het;G>A 1167;91|58 Hom;G>A 3696;0|134 N N - 11 8159843 8159843 G A snp nonsynonymous SNV C403T P135S hydrophobic,neutral polar,hydrophilic,neutral RIC3 Ric3 ENSG00000166405 RIC3 acetylcholine receptor chaperone chr11:8127597-8190602 The protein encoded by this gene promotes functional expression of homomeric nicotinic acetylcholine receptors at the cell surface. It enhances currents generated by these receptors by expediting receptor transport to the cell surface and by increasing receptor number. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Type 2 Diabetes| edema | rosiglitazone; Neuroblastoma GO:0006457;protein folding;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007271;synaptic transmission, cholinergic;IBA|GO:0034394;protein localization to cell surface;IBA|GO:0043623;cellular protein complex assembly;IEA GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IBA|GO:0043025;neuronal cell body;IBA|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0033130;acetylcholine receptor binding;IBA|GO:0044183;protein binding involved in protein folding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RIC3 https://www.ncbi.nlm.nih.gov/omim/?term=610509 http://www.informatics.jax.org/searchtool/Search.do?query=RIC3&submit=Quick%0D%11782ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIC3 rs73411617 0.0543131 0.0404 0.0407 0.15 2 13 exonic exonic exonic RIC3 RIC3 ENSG00000166405 nonsynonymous SNV nonsynonymous SNV unknown RIC3:NM_024557:exon3:c.C403T:p.P135S,RIC3:NM_001206672:exon3:c.C403T:p.P135S,RIC3:NM_001206671:exon3:c.C403T:p.P135S, RIC3:uc001mgd.2:exon3:c.C403T:p.P135S,RIC3:uc010rbm.1:exon3:c.C403T:p.P135S,RIC3:uc010rbl.1:exon4:c.C253T:p.P85S,RIC3:uc001mgc.2:exon3:c.C403T:p.P135S,RIC3:uc009yfm.2:exon3:c.C403T:p.P135S, UNKNOWN Het;G>A 393;49|24 Hom;G>A 1179;2|45 N N - 11 870446 870446 G A snp nonsynonymous SNV C1013T A338V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CHID1 Chid1 ENSG00000177830 chitinase domain containing 1 chr11:867357-915058 Tobacco Use Disorder Platelet degranulation GO:0002376;immune system process;IEA|GO:0002576;platelet degranulation;TAS|GO:0005975;carbohydrate metabolic process;IEA|GO:0045087;innate immune response;IEA|GO:1900016;negative regulation of cytokine production involved in inflammatory response;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005764;lysosome;IDA|GO:0005770;late endosome;IDA|GO:0005802;trans-Golgi network;IDA|GO:0016020;membrane;IDA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008061;chitin binding;IEA|GO:0070492;oligosaccharide binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CHID1 https://www.ncbi.nlm.nih.gov/omim/?term=615692 http://www.informatics.jax.org/searchtool/Search.do?query=CHID1&submit=Quick%0D%14091ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHID1 rs6682 0.56889 0.4769 0.5466 0.38 5 13 exonic exonic exonic CHID1 CHID1 ENSG00000177830 nonsynonymous SNV nonsynonymous SNV unknown CHID1:NM_023947:exon11:c.C1013T:p.A338V,CHID1:NM_001142675:exon11:c.C1013T:p.A338V,CHID1:NM_001142674:exon12:c.C1013T:p.A338V,CHID1:NM_001142676:exon12:c.C1088T:p.A363V,CHID1:NM_001142677:exon10:c.C920T:p.A307V, CHID1:uc010qwv.2:exon11:c.C1196T:p.A399V,CHID1:uc010qww.2:exon11:c.C1013T:p.A338V,CHID1:uc001lsm.3:exon11:c.C1013T:p.A338V,CHID1:uc001lso.3:exon12:c.C1013T:p.A338V,CHID1:uc010qwu.1:exon11:c.C1103T:p.A368V,CHID1:uc001lsp.3:exon10:c.C920T:p.A307V,CHID1:uc001lsn.3:exon12:c.C1088T:p.A363V, UNKNOWN Het;G>A 454;39|25 Hom;G>A 1124;0|44 N N - 11 8959545 8959545 C A snp nonsynonymous SNV G164T R55L polar,hydrophilic,charged(+) aliphatic,hydrophobic,neutral ASCL3 Ascl3 ENSG00000176009 achaete-scute family bHLH transcription factor 3 chr11:8959119-8964580 Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] Mice heterozygous for a null allele are born at the expected frequency and exhibit normal growth, fertility, survival and salivary gland function. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA|GO:0090575;RNA polymerase II transcription factor complex;IBA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASCL3 https://www.ncbi.nlm.nih.gov/omim/?term=609154 http://www.informatics.jax.org/searchtool/Search.do?query=ASCL3&submit=Quick%0D%13782ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASCL3 rs4909951 0.545727 0.5469 0.6165 0.31 4 13 exonic exonic exonic ASCL3 ASCL3 ENSG00000176009 nonsynonymous SNV nonsynonymous SNV unknown ASCL3:NM_020646:exon2:c.G164T:p.R55L, ASCL3:uc001mhd.1:exon2:c.G164T:p.R55L,ASCL3:uc021qdj.1:exon1:c.G164T:p.R55L, UNKNOWN Het;C>A 1328;52|60 Hom;C>A 3169;0|117 N N - 11 89935586 89935586 G T snp nonsynonymous SNV C986A A329D aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) CHORDC1 Chordc1 ENSG00000110172 cysteine and histidine rich domain containing 1 chr11:89934328-89956532 C-Reactive Protein; Hip; Coronary Artery Disease; longevity; Body Mass Index; Stroke; Erythrocytes; Parkinson Disease; Cholesterol, HDL; Body Weights and Measures; Blood Pressure; Creatinine; Receptors, Tumor Necrosis Factor, Type II; Insulin; Bone Density; Mortality; Alzheimer Disease; HIV-1; Glomerular Filtration Rate Mice homozygous for a knock-out allele exhibit embryonic lethality before somite formation with decreased proliferation and increased apoptosis of cultured inner cell masse cells. GO:0010824;regulation of centrosome duplication;IEA|GO:0061077;chaperone-mediated protein folding;IEA|GO:1900034;regulation of cellular response to heat;IEA|GO:2000299;negative regulation of Rho-dependent protein serine/threonine kinase activity;IEA GO:0005575;cellular_component;ND GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0043531;ADP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051879;Hsp90 protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CHORDC1 https://www.uniprot.org/uniprot/Q9UHD1 https://www.ncbi.nlm.nih.gov/omim/?term=604353 http://www.informatics.jax.org/searchtool/Search.do?query=CHORDC1&submit=Quick%0D%3936ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHORDC1 rs1045861 0.610423 0.5997 0.6885 0.23 3 13 exonic exonic exonic CHORDC1 CHORDC1 ENSG00000110172 nonsynonymous SNV nonsynonymous SNV unknown CHORDC1:NM_012124:exon11:c.C986A:p.A329D,CHORDC1:NM_001144073:exon10:c.C929A:p.A310D, CHORDC1:uc009yvz.2:exon10:c.C929A:p.A310D,CHORDC1:uc001pdg.2:exon11:c.C986A:p.A329D, UNKNOWN Het;G>T 1489;88|72 Hom;G>T 3462;0|130 N N - 11 94759059 94759059 A G snp nonsynonymous SNV A338G Q113R polar,hydrophilic,neutral polar,hydrophilic,charged(+) KDM4E ENSG00000235268 lysine demethylase 4E chr11:94758422-94760760 Mice homozygous for a knock-out allele exhibit accumulation of histone 3 methylation in spermatids, a transient increase in testes size, wider tubules, occasional male germ cell apoptosis, and decreased body weight. However, fertility is normal. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IEA GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM4E https://www.ncbi.nlm.nih.gov/omim/?term=616581 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4E&submit=Quick%0D%19326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4E rs10752685 0.876398 0 0.8463 0.08 1 12 exonic exonic exonic KDM4E KDM4E ENSG00000235268 nonsynonymous SNV nonsynonymous SNV unknown KDM4E:NM_001161630:exon1:c.A338G:p.Q113R, KDM4E:uc010ruf.1:exon1:c.A338G:p.Q113R, UNKNOWN Het;A>G 502;47|25 Hom;A>G 1726;0|62 N N - 11 95825374 95825383 TTGCTGCTGC T indel nonframeshift substitution 1812_1821A MAML2 Maml2 ENSG00000184384 mastermind like transcriptional coactivator 2 chr11:95709762-96076344 The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015] Heart Rate; Forced Expiratory Volume; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Myocardial Infarction; Forced Vital Capacity; Celiac Disease|; Cholesterol, HDL; Tobacco Use Disorder; Death, Sudden, Cardiac; smoking cessation; response to treatment for acute lymphoblastic leukemia RUNX3 regulates NOTCH signaling GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007219;Notch signaling pathway;TAS|GO:0007221;positive regulation of transcription of Notch receptor target;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016607;nuclear speck;IEA GO:0003713;transcription coactivator activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/MAML2 https://www.ncbi.nlm.nih.gov/omim/?term=607537 http://www.informatics.jax.org/searchtool/Search.do?query=MAML2&submit=Quick%0D%15198ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAML2 rs141671766 0.839257 0.4924 0.5901 1 0 0 exonic exonic exonic MAML2 MAML2 ENSG00000184384 nonframeshift substitution nonframeshift substitution unknown MAML2:NM_032427:exon2:c.1812_1821A, MAML2:uc001pfw.1:exon2:c.1812_1821A, UNKNOWN Het;-TGCTGCTGC 1282;7|55 Hom;-TGCTGCTGC 2282;3|57 N N - 12 100708367 100708367 C T snp nonsynonymous SNV C1070T P357L hydrophobic,neutral aliphatic,hydrophobic,neutral SCYL2 Scyl2 ENSG00000136021 SCY1 like pseudokinase 2 chr12:100660918-100735502 The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015] Mice homozygous for a knock-out allele exhibit neonatal lethality, absent gastric milk in neonates, postnatal growth retardation, sensory-motor deficits and limb grapsing. Mice homozygous for a conditional allele exhibit similar phenotypes with near complete loss of CA3 neurons. GO:0002092;positive regulation of receptor internalization;IDA|GO:0006468;protein phosphorylation;IEA|GO:0008333;endosome to lysosome transport;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:2000286;receptor internalization involved in canonical Wnt signaling pathway;IDA|GO:2000370;positive regulation of clathrin-dependent endocytosis;IDA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004672;protein kinase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCYL2 https://www.uniprot.org/uniprot/Q6P3W7 https://www.ncbi.nlm.nih.gov/omim/?term=616365 http://www.informatics.jax.org/searchtool/Search.do?query=SCYL2&submit=Quick%0D%7271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCYL2 rs33968174 0.0353435 0.0856 0.0838 0.69 9 13 exonic exonic exonic SCYL2 SCYL2 ENSG00000136021 nonsynonymous SNV nonsynonymous SNV unknown SCYL2:NM_017988:exon8:c.C1070T:p.P357L, SCYL2:uc009ztw.1:exon7:c.C551T:p.P184L,SCYL2:uc001thn.3:exon8:c.C1070T:p.P357L,SCYL2:uc001thm.1:exon8:c.C1070T:p.P357L, UNKNOWN Het;C>T 709;104|47 Hom;C>T 2898;0|109 N N - 12 10163375 10163375 C A snp nonsynonymous SNV C17A T6N polar,hydrophilic,neutral polar,hydrophilic,neutral CLEC12B Clec12b ENSG00000256660 C-type lectin domain family 12 member B chr12:10163226-10171218 GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLEC12B http://www.informatics.jax.org/searchtool/Search.do?query=CLEC12B&submit=Quick%0D%20201ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC12B rs1359082 0.3125 0.3808 0.3527 0.62 8 13 exonic exonic exonic CLEC12B CLEC12B ENSG00000256660 nonsynonymous SNV nonsynonymous SNV unknown CLEC12B:NM_001129998:exon1:c.C17A:p.T6N,CLEC12B:NM_205852:exon1:c.C17A:p.T6N, CLEC12B:uc001qwx.2:exon1:c.C17A:p.T6N,CLEC12B:uc001qwz.2:exon1:c.C17A:p.T6N, UNKNOWN Het;C>A 567;43|31 Hom;C>A 2152;1|66 N N - 12 10560957 10560957 T C snp nonsynonymous SNV A311G N104S polar,hydrophilic,neutral polar,hydrophilic,neutral KLRC4 ENSG00000183542 killer cell lectin like receptor C4 chr12:10559983-10562356 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010] DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Hepatitis B, Chronic; cancer; ulcerative colitis; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Abortion, Spontaneous Enhanced osteoclastic activity in the bone of homozygous null mice leads to osteopenia and high serum calcium levels. GO:0006968;cellular defense response;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KLRC4 https://hpo.jax.org/app/browse/search?q=KLRC4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602893 http://www.informatics.jax.org/searchtool/Search.do?query=KLRC4&submit=Quick%0D%15007ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLRC4 rs2617170 0.556709 0.6105 0.6306 0.23 3 13 exonic exonic exonic KLRC4 KLRC4 ENSG00000183542,ENSG00000255819 nonsynonymous SNV nonsynonymous SNV unknown KLRC4:NM_013431:exon3:c.A311G:p.N104S, KLRC4:uc001qye.3:exon3:c.A311G:p.N104S, UNKNOWN Het;T>C 476;31|26 Hom;T>C 1557;0|60 N N - 12 10562089 10562089 A C snp nonsynonymous SNV T86G I29S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral KLRC4 ENSG00000183542 killer cell lectin like receptor C4 chr12:10559983-10562356 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010] DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Hepatitis B, Chronic; cancer; ulcerative colitis; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Abortion, Spontaneous Enhanced osteoclastic activity in the bone of homozygous null mice leads to osteopenia and high serum calcium levels. GO:0006968;cellular defense response;TAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/KLRC4 https://hpo.jax.org/app/browse/search?q=KLRC4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602893 http://www.informatics.jax.org/searchtool/Search.do?query=KLRC4&submit=Quick%0D%15007ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLRC4 rs1841958 0.737021 0.6728 0.7188 0.08 1 13 exonic exonic exonic KLRC4 KLRC4 ENSG00000183542,ENSG00000255819 nonsynonymous SNV nonsynonymous SNV unknown KLRC4:NM_013431:exon1:c.T86G:p.I29S, KLRC4:uc001qye.3:exon1:c.T86G:p.I29S, UNKNOWN Het;A>C 1766;59|84 Hom;A>C 3948;0|148 N N - 12 10573094 10573094 C G snp nonsynonymous SNV G56C W19S aromatic,hydrophobic,neutral polar,hydrophilic,neutral KLRC3 ENSG00000205810 killer cell lectin like receptor C3 chr12:10564911-10573194 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004888;transmembrane signaling receptor activity;TAS|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KLRC3 https://www.ncbi.nlm.nih.gov/omim/?term=602892 http://www.informatics.jax.org/searchtool/Search.do?query=KLRC3&submit=Quick%0D%17566ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLRC3 rs2682491 0.44349 0 0.5398 0.15 2 13 exonic exonic exonic KLRC3 KLRC3 ENSG00000205810 nonsynonymous SNV nonsynonymous SNV unknown KLRC3:NM_007333:exon1:c.G56C:p.W19S,KLRC3:NM_002261:exon1:c.G56C:p.W19S, KLRC3:uc001qyi.1:exon1:c.G56C:p.W19S,KLRC3:uc001qyf.3:exon1:c.G56C:p.W19S,KLRC3:uc021qvc.1:exon1:c.G56C:p.W19S,KLRC3:uc021qvd.1:exon1:c.G56C:p.W19S, UNKNOWN Het;C>G 1076;59|51 Hom;C>G 2371;3|88 N N - 12 10587111 10587111 A G snp nonsynonymous SNV T305C F102S aromatic,hydrophobic,neutral polar,hydrophilic,neutral KLRC2 ENSG00000205809 killer cell lectin like receptor C2 chr12:10579453-10594899 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] lupus erythematosus; rheumatoid arthritis; rheumatic diseases; Tobacco Use Disorder; Behcet Syndrome; systemic lupus erythematosus; rheumatoid arthritis; Arthritis, Rheumatoid| DAP12 signaling GO:0002228;natural killer cell mediated immunity;IDA|GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;TAS|GO:0045087;innate immune response;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0023024;MHC class I protein complex binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:1990405;protein antigen binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KLRC2 https://www.ncbi.nlm.nih.gov/omim/?term=602891 http://www.informatics.jax.org/searchtool/Search.do?query=KLRC2&submit=Quick%0D%17565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLRC2 rs1141715 0 0 0.8180 0.08 1 12 exonic exonic exonic KLRC2 KLRC2,KLRC3 ENSG00000205809,ENSG00000255641 nonsynonymous SNV nonsynonymous SNV unknown KLRC2:NM_002260:exon3:c.T305C:p.F102S, KLRC2:uc001qyk.2:exon3:c.T305C:p.F102S,KLRC2:uc010she.1:exon3:c.T305C:p.F102S,KLRC3:uc001qyh.3:exon3:c.T305C:p.F102S, UNKNOWN Het;A>G 2391;15|101 Hom;A>G 3554;0|130 N N - 12 10962115 10962115 A G snp nonsynonymous SNV T560C V187A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TAS2R9 ENSG00000273713 taste 2 receptor member 9 chr12:10961693-10962767 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] Class C/3 (Metabotropic glutamate/pheromone receptors) GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0008150;biological_process;ND|GO:0050896;response to stimulus;IEA|GO:0050909;sensory perception of taste;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0008527;taste receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TAS2R9 https://www.uniprot.org/uniprot/Q9NYW1 https://www.ncbi.nlm.nih.gov/omim/?term=604795 http://www.informatics.jax.org/searchtool/Search.do?query=TAS2R9&submit=Quick%0D%20975ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAS2R9 rs3741845 0.53095 0.4933 0.5964 0.08 1 13 exonic exonic exonic TAS2R9 TAS2R9 ENSG00000121381 nonsynonymous SNV nonsynonymous SNV unknown TAS2R9:NM_023917:exon1:c.T560C:p.V187A, TAS2R9:uc001qyx.3:exon1:c.T560C:p.V187A, UNKNOWN Het;A>G 1680;84|71 Hom;A>G 3267;0|113 N N - 12 123200693 123200693 A G snp nonsynonymous SNV T592C F198L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HCAR3 ENSG00000255398 hydroxycarboxylic acid receptor 3 chr12:123199303-123201439 Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder Mice homozygous for targeted mutations that inactivate the gene showed impaired reductions of free fatty acid (FFA) and triglyceride plasma levels in response to nicotinic acid. G alpha (i) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/HCAR3 https://www.ncbi.nlm.nih.gov/omim/?term=606039 http://www.informatics.jax.org/searchtool/Search.do?query=HCAR3&submit=Quick%0D%20132ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HCAR3 rs17884481 0.463858 0 0.5062 0.27 3 11 exonic exonic exonic HCAR3 HCAR3 ENSG00000255398 nonsynonymous SNV nonsynonymous SNV unknown HCAR3:NM_006018:exon1:c.T592C:p.F198L, HCAR3:uc001ucy.4:exon1:c.T592C:p.F198L, UNKNOWN Het;A>G 1631;94|74 Hom;A>G 3179;3|115 N N - 12 123200768 123200768 T G snp nonsynonymous SNV A517C T173P polar,hydrophilic,neutral hydrophobic,neutral HCAR3 ENSG00000255398 hydroxycarboxylic acid receptor 3 chr12:123199303-123201439 Type 2 Diabetes| edema | rosiglitazone; schizophrenia | bipolar disorder Mice homozygous for targeted mutations that inactivate the gene showed impaired reductions of free fatty acid (FFA) and triglyceride plasma levels in response to nicotinic acid. G alpha (i) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/HCAR3 https://www.ncbi.nlm.nih.gov/omim/?term=606039 http://www.informatics.jax.org/searchtool/Search.do?query=HCAR3&submit=Quick%0D%20132ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HCAR3 rs1798192 0.464058 0.5499 0.5063 0.09 1 11 exonic exonic exonic HCAR3 HCAR3 ENSG00000255398 nonsynonymous SNV nonsynonymous SNV unknown HCAR3:NM_006018:exon1:c.A517C:p.T173P, HCAR3:uc001ucy.4:exon1:c.A517C:p.T173P, UNKNOWN Het;T>G 2047;106|79 Hom;T>G 3773;3|123 N N - 12 124325977 124325977 T G snp nonsynonymous SNV T4891G L1631V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DNAH10 Dnah10 ENSG00000281935 dynein axonemal heavy chain 10 chr12:124247042-124420753 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008] lipid levels; Waist Circumference GO:0007018;microtubule-based movement;IEA GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030286;dynein complex;IEA GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH10 https://www.ncbi.nlm.nih.gov/omim/?term=605884 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH10&submit=Quick%0D%22356ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH10 rs4930729 0.786142 0.9172 0.8344 0.15 2 13 exonic exonic exonic DNAH10 DNAH10 ENSG00000197653 nonsynonymous SNV nonsynonymous SNV unknown DNAH10:NM_207437:exon29:c.T4891G:p.L1631V, DNAH10:uc001uft.4:exon29:c.T4891G:p.L1631V, UNKNOWN Het;T>G 1095;92|60 Hom;T>G 3955;0|144 N N - 12 128900005 128900005 G A snp nonsynonymous SNV G814A V272I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TMEM132C Tmem132c ENSG00000181234 transmembrane protein 132C chr12:128751948-129192460 Mental Competency; Suicide, Attempted; Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Diabetes Mellitus; Alcoholism GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM132C http://www.informatics.jax.org/searchtool/Search.do?query=TMEM132C&submit=Quick%0D%14596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM132C rs1683723 0.510383 0.4137 0.5689 0.25 3 12 exonic exonic exonic TMEM132C TMEM132C ENSG00000181234 nonsynonymous SNV nonsynonymous SNV unknown TMEM132C:NM_001136103:exon2:c.G814A:p.V272I, TMEM132C:uc021rgn.1:exon2:c.G814A:p.V272I, UNKNOWN Het;G>A 2462;123|113 Hom;G>A 4676;1|177 N N - 12 131306314 131306314 C G snp nonsynonymous SNV G125C S42T polar,hydrophilic,neutral polar,hydrophilic,neutral STX2 Stx2 ENSG00000111450 syntaxin 2 chr12:131274145-131323811 The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele display male infertility associated with abnormal testicular development and impaired spermatogenesis, increased intestinal growth due to enhanced crypt cell proliferation and crypt fission, and decreased susceptibility to induced colitis. GO:0006886;intracellular protein transport;IBA|GO:0007165;signal transduction;TAS|GO:0007340;acrosome reaction;ISS|GO:0007398;ectoderm development;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0016192;vesicle-mediated transport;IEA|GO:0030154;cell differentiation;IEA|GO:0030193;regulation of blood coagulation;IMP|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0033194;response to hydroperoxide;IDA|GO:0048278;vesicle docking;IBA|GO:0051259;protein oligomerization;IDA|GO:1903575;cornified envelope assembly;IDA GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IDA|GO:0008021;synaptic vesicle;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030027;lamellipodium;IDA|GO:0031201;SNARE complex;IBA|GO:0043231;intracellular membrane-bounded organelle;TAS|GO:0070062;extracellular exosome;IDA GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IDA|GO:0048306;calcium-dependent protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/STX2 https://www.uniprot.org/uniprot/P32856 https://www.ncbi.nlm.nih.gov/omim/?term=132350 http://www.informatics.jax.org/searchtool/Search.do?query=STX2&submit=Quick%0D%4080ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STX2 rs17564 0.604034 0.5281 0.6484 0.08 1 13 exonic exonic exonic STX2 STX2 ENSG00000111450 nonsynonymous SNV nonsynonymous SNV unknown STX2:NM_194356:exon3:c.G125C:p.S42T,STX2:NM_001980:exon3:c.G125C:p.S42T, STX2:uc001uip.4:exon3:c.G125C:p.S42T,STX2:uc001uio.4:exon3:c.G125C:p.S42T,STX2:uc010tbj.3:exon3:c.G125C:p.S42T, UNKNOWN Het;C>G 1160;47|54 Hom;C>G 2997;0|104 N N - 12 132325239 132325239 G A snp nonsynonymous SNV G544A A182T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral MMP17 Mmp17 ENSG00000198598 matrix metallopeptidase 17 chr12:132312938-132336328 This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein is unique among the membrane-type matrix metalloproteinases in that it is anchored to the cell membrane via a glycosylphosphatidylinositol (GPI) anchor. Elevated expression of the encoded protein has been observed in osteoarthritis and multiple human cancers. [provided by RefSeq, Jan 2016] Hepatitis C, Chronic|Liver Cirrhosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes Mice homozygous for a reporter allele exhibit normal morphology, clinical chemistry, hematology and behavior. Mice homozygous for a reporter/null allele exhibit normal growth, fertility, and lifespan but show subtle renal developmental defects, hypodipsia, and elevated urine osmolarity. Activation of Matrix Metalloproteinases GO:0001822;kidney development;IEA|GO:0006508;proteolysis;TAS|GO:0042756;drinking behavior;IEA|GO:0043085;positive regulation of catalytic activity;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031225;anchored component of membrane;IEA GO:0004222;metalloendopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008047;enzyme activator activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/MMP17 https://www.ncbi.nlm.nih.gov/omim/?term=602285 http://www.informatics.jax.org/searchtool/Search.do?query=MMP17&submit=Quick%0D%16938ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP17 rs6598163 0.453674 0.4719 0.4745 0.08 1 13 exonic exonic exonic MMP17 MMP17 ENSG00000198598 nonsynonymous SNV nonsynonymous SNV unknown MMP17:NM_016155:exon4:c.G544A:p.A182T, MMP17:uc001ujd.1:exon3:c.G292A:p.A98T,MMP17:uc001ujc.1:exon4:c.G544A:p.A182T, UNKNOWN Het;G>A 1964;70|93 Hom;G>A 5236;0|194 N N - 12 133159733 133159733 C T snp nonsynonymous SNV C2507T A836V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FBRSL1 Fbrsl1 ENSG00000112787 fibrosin like 1 chr12:133066137-133161774 GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FBRSL1 https://www.uniprot.org/uniprot/Q9HCM7 http://www.informatics.jax.org/searchtool/Search.do?query=FBRSL1&submit=Quick%0D%4291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBRSL1 rs11550079 0.544129 0 0.4782 0.17 2 12 exonic exonic exonic FBRSL1 FBRSL1 ENSG00000112787 nonsynonymous SNV nonsynonymous SNV unknown FBRSL1:NM_001142641:exon17:c.C2507T:p.A836V, FBRSL1:uc001ukf.3:exon17:c.C2507T:p.A836V, UNKNOWN Het;C>T 545;8|25 Hom;C>T 721;0|29 N N - 12 14959391 14959391 T C snp nonsynonymous SNV A224G K75R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) SMCO3 Smco3 ENSG00000179256 single-pass membrane protein with coiled-coil domains 3 chr12:14957584-14967116 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SMCO3 http://www.informatics.jax.org/searchtool/Search.do?query=SMCO3&submit=Quick%0D%14315ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMCO3 rs2241221 0.189896 0.1837 0.1569 0.17 2 12 exonic exonic exonic SMCO3 SMCO3 ENSG00000179256 nonsynonymous SNV nonsynonymous SNV unknown SMCO3:NM_001013698:exon2:c.A224G:p.K75R, SMCO3:uc021qvp.1:exon1:c.A224G:p.K75R,SMCO3:uc001rck.1:exon2:c.A224G:p.K75R, UNKNOWN Het;T>C 1871;110|83 Hom;T>C 6209;0|218 N N - 12 14976063 14976063 A G snp nonsynonymous SNV A194G K65R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) C12orf60 BC049715 ENSG00000182993 chromosome 12 open reading frame 60 chr12:14956506-15059520 http://www.genecards.org/index.php?path=/Search/keyword/C12orf60 http://www.informatics.jax.org/searchtool/Search.do?query=C12orf60&submit=Quick%0D%14897ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf60 rs7304054 0.190296 0.1891 0.1573 0.15 2 13 exonic exonic exonic C12orf60 C12orf60 ENSG00000182993 nonsynonymous SNV nonsynonymous SNV unknown C12orf60:NM_175874:exon2:c.A194G:p.K65R, C12orf60:uc001rcj.4:exon2:c.A194G:p.K65R,C12orf60:uc021qvq.1:exon1:c.A194G:p.K65R, UNKNOWN Het;A>G 2360;63|100 Hom;A>G 4276;0|145 N N - 12 14976178 14976178 T A snp nonsynonymous SNV T309A N103K polar,hydrophilic,neutral polar,hydrophilic,charged(+) C12orf60 BC049715 ENSG00000182993 chromosome 12 open reading frame 60 chr12:14956506-15059520 http://www.genecards.org/index.php?path=/Search/keyword/C12orf60 http://www.informatics.jax.org/searchtool/Search.do?query=C12orf60&submit=Quick%0D%14897ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf60 rs7307438 0.190296 0.1891 0.1572 0.15 2 13 exonic exonic exonic C12orf60 C12orf60 ENSG00000182993 nonsynonymous SNV nonsynonymous SNV unknown C12orf60:NM_175874:exon2:c.T309A:p.N103K, C12orf60:uc001rcj.4:exon2:c.T309A:p.N103K,C12orf60:uc021qvq.1:exon1:c.T309A:p.N103K, UNKNOWN Het;T>A 1976;107|91 Hom;T>A 3809;0|132 N N - 12 14976417 14976419 CTA C indel frameshift substitution 548_550C C12orf60 BC049715 ENSG00000182993 chromosome 12 open reading frame 60 chr12:14956506-15059520 http://www.genecards.org/index.php?path=/Search/keyword/C12orf60 http://www.informatics.jax.org/searchtool/Search.do?query=C12orf60&submit=Quick%0D%14897ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf60 rs10556010 0.190096 0.1905 0.1575 1 0 0 exonic exonic exonic C12orf60 C12orf60 ENSG00000182993 frameshift substitution frameshift substitution unknown C12orf60:NM_175874:exon2:c.548_550C, C12orf60:uc001rcj.4:exon2:c.548_550C,C12orf60:uc021qvq.1:exon1:c.548_550C, UNKNOWN Het;-TA 1957;63|52 Hom;-TA 4492;0|101 N N - 12 40758652 40758652 T C snp nonsynonymous SNV T7190C M2397T hydrophobic,neutral polar,hydrophilic,neutral LRRK2 Lrrk2 ENSG00000188906 leucine rich repeat kinase 2 chr12:40590546-40763087 This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008] Gait Ataxia|Parkinson Disease; Tobacco Use Disorder; dementia; Neutrophils; multiple system atrophy; Parkinson Disease; essential tremor; Leprosy, Multibacillary|Leprosy, Paucibacillary; Supranuclear Palsy, Progressive; Crohn's disease; null; dementia Parkinson's disease; Aphasia, Primary Progressive|Heredodegenerative Disorders, Nervous System; Essential Tremor; Alzheimer's Disease; Alzheimer's disease ; Alzheimer's disease; corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy; Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Parkinson's disease; essential tremor Parkinson's disease; Dystonic Disorders|Multiple System Atrophy; Parkinsons disease; Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy; Parkinson's disease Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole. Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy. PTK6 promotes HIF1A stabilization GO:0000165;MAPK cascade;IDA|GO:0000186;activation of MAPKK activity;IDA|GO:0000187;activation of MAPK activity;IMP|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006897;endocytosis;IGI|GO:0006914;autophagy;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007005;mitochondrion organization;IMP|GO:0007030;Golgi organization;IMP|GO:0007040;lysosome organization;IMP|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007528;neuromuscular junction development;IMP|GO:0008340;determination of adult lifespan;IMP|GO:0009267;cellular response to starvation;IMP|GO:0010506;regulation of autophagy;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0010955;negative regulation of protein processing;IDA|GO:0014041;regulation of neuron maturation;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0021772;olfactory bulb development;IMP|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IMP|GO:0030154;cell differentiation;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032091;negative regulation of protein binding;IMP|GO:0032092;positive regulation of protein binding;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IEA|GO:0034260;negative regulation of GTPase activity;IDA|GO:0034599;cellular response to oxidative stress;IMP|GO:0034613;cellular protein localization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0035564;regulation of kidney size;IEA|GO:0035640;exploration behavior;IMP|GO:0035641;locomotory exploration behavior;IEA|GO:0035751;regulation of lysosomal lumen pH;IMP|GO:0040012;regulation of locomotion;IMP|GO:0042391;regulation of membrane potential;IMP|GO:0043068;positive regulation of programmed cell death;IDA|GO:0043406;positive regulation of MAP kinase activity;IC|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046039;GTP metabolic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0048312;intracellular distribution of mitochondria;IMP|GO:0048812;neuron projection morphogenesis;IMP|GO:0051646;mitochondrion localization;IMP|GO:0051900;regulation of mitochondrial depolarization;IMP|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060070;canonical Wnt signaling pathway;TAS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060159;regulation of dopamine receptor signaling pathway;IEA|GO:0060161;positive regulation of dopamine receptor signaling pathway;IMP|GO:0060828;regulation of canonical Wnt signaling pathway;TAS|GO:0061001;regulation of dendritic spine morphogenesis;IEA|GO:0070585;protein localization to mitochondrion;TAS|GO:0070997;neuron death;IMP|GO:0071287;cellular response to manganese ion;IMP|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072593;reactive oxygen species metabolic process;IMP|GO:0090140;regulation of mitochondrial fission;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;IGI|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1901214;regulation of neuron death;IMP|GO:1901215;negative regulation of neuron death;IGI|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IMP|GO:1902499;positive regulation of protein autoubiquitination;IDA|GO:1902692;regulation of neuroblast proliferation;IMP|GO:1902803;regulation of synaptic vesicle transport;IEA|GO:1902823;negative regulation of late endosome to lysosome transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1903125;negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation;IDA|GO:1903206;negative regulation of hydrogen peroxide-induced cell death;IMP|GO:1903215;negative regulation of protein targeting to mitochondrion;IDA|GO:1903217;negative regulation of protein processing involved in protein targeting to mitochondrion;IC|GO:1903351;cellular response to dopamine;IMP|GO:1904887;Wnt signalosome assembly;IPI|GO:1905279;regulation of retrograde transport, endosome to Golgi;IGI|GO:1905289;regulation of CAMKK-AMPK signaling cascade;IMP|GO:2000172;regulation of branching morphogenesis of a nerve;IMP|GO:2000300;regulation of synaptic vesicle exocytosis;IMP GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IMP|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005798;Golgi-associated vesicle;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005902;microvillus;IDA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016234;inclusion body;IMP|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IDA|GO:0032473;cytoplasmic side of mitochondrial outer membrane;IDA|GO:0032839;dendrite cytoplasm;IDA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043195;terminal bouton;TAS|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0044753;amphisome;IDA|GO:0044754;autolysosome;IDA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070062;extracellular exosome;IDA|GO:0097487;multivesicular body, internal vesicle;IDA|GO:0098794;postsynapse;IEA|GO:0099400;caveola neck;IDA|GO:1990909;Wnt signalosome;IDA GO:0000149;SNARE binding;IPI|GO:0000166;nucleotide binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003779;actin binding;IPI|GO:0003924;GTPase activity;IDA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004708;MAP kinase kinase activity;IDA|GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;TAS|GO:0015631;tubulin binding;IDA|GO:0016301;kinase activity;IMP|GO:0016740;transferase activity;IEA|GO:0017048;Rho GTPase binding;IPI|GO:0017075;syntaxin-1 binding;IPI|GO:0030159;receptor signaling complex scaffold activity;IC|GO:0030276;clathrin binding;IPI|GO:0034211;GTP-dependent protein kinase activity;IDA|GO:0036479;peroxidase inhibitor activity;IDA|GO:0039706;co-receptor binding;TAS|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0044325;ion channel binding;IPI|GO:0051018;protein kinase A binding;IPI|GO:1904713;beta-catenin destruction complex binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/LRRK2 https://hpo.jax.org/app/browse/search?q=LRRK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609007 http://www.informatics.jax.org/searchtool/Search.do?query=LRRK2&submit=Quick%0D%16136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRK2 rs3761863 0.551717 0.6123 0.6240 0.23 3 13 exonic exonic exonic LRRK2 LRRK2 ENSG00000188906 nonsynonymous SNV nonsynonymous SNV unknown LRRK2:NM_198578:exon49:c.T7190C:p.M2397T, LRRK2:uc009zjw.3:exon28:c.T3704C:p.M1235T,LRRK2:uc001rmg.4:exon49:c.T7190C:p.M2397T,LRRK2:uc001rmi.3:exon24:c.T3689C:p.M1230T, UNKNOWN Het;T>C 920;49|44 Hom;T>C 2933;1|105 N N - 12 41582603 41582603 G C snp nonsynonymous SNV G346C G116R aliphatic,neutral polar,hydrophilic,charged(+) PDZRN4 Pdzrn4 ENSG00000165966 PDZ domain containing ring finger 4 chr12:41582250-41968392 Amyotrophic Lateral Sclerosis; protein quantitative trait loci; Parkinson Disease; Blood Coagulation Factors; Exercise Test; Alkaline Phosphatase; Hand Strength; Multiple Sclerosis; Heart Rate; multiple sclerosis; Bipolar Disorder; Cholesterol, HDL; Stroke; Creatinine GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDZRN4 https://www.ncbi.nlm.nih.gov/omim/?term=609730 http://www.informatics.jax.org/searchtool/Search.do?query=PDZRN4&submit=Quick%0D%11666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZRN4 rs10879831 0.608626 0 0.7628 0.10 1 10 exonic exonic exonic PDZRN4 PDZRN4 ENSG00000165966 nonsynonymous SNV nonsynonymous SNV unknown PDZRN4:NM_001164595:exon1:c.G346C:p.G116R, PDZRN4:uc010skn.2:exon1:c.G346C:p.G116R, UNKNOWN Het;G>C 293;5|8 Hom;G>C 291;0|6 N N - 12 49218810 49218810 G GT indel UTR5;UTR3 -103G>GT CACNB3 Cacnb3 ENSG00000167535 calcium voltage-gated channel auxiliary subunit beta 3 chr12:49207577-49222724 This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011] Bipolar Disorder Homozygotes for a null allele show altered Ca2+ channel activity, hyporesponsiveness to DHP, high blood pressure on a high salt diet, and impaired calcium responses and cytokine production in CD4 T cells. Homozygotes for another null allele show enhancedNMDA activity and long term potentiation. Phase 2 - plateau phase GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0007268;chemical synaptic transmission;IBA|GO:0007528;neuromuscular junction development;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0050852;T cell receptor signaling pathway;IEA|GO:0051899;membrane depolarization;TAS|GO:0060402;calcium ion transport into cytosol;ISS|GO:0061337;cardiac conduction;TAS|GO:0061577;calcium ion transmembrane transport via high voltage-gated calcium channel;ISS|GO:0070588;calcium ion transmembrane transport;IEA|GO:0072659;protein localization to plasma membrane;ISS|GO:0098903;regulation of membrane repolarization during action potential;ISS|GO:1901385;regulation of voltage-gated calcium channel activity;IBA GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:1990454;L-type voltage-gated calcium channel complex;ISS GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0008331;high voltage-gated calcium channel activity;IBA|GO:0019901;protein kinase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNB3 https://www.ncbi.nlm.nih.gov/omim/?term=601958 http://www.informatics.jax.org/searchtool/Search.do?query=CACNB3&submit=Quick%0D%12033ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNB3 rs11379348 0.417133 0.4226 0 1 0 0 intronic UTR5;UTR3 intronic CACNB3 CACNB3(uc001rsk.2:c.-103G>GT);CACNB3(uc010slx.2:c.*253G>GT) ENSG00000167535 Na Na Na Na Na Na Het;+T 1111;45|42 Hom;+T 3789;0|110 N N - 12 49724955 49724955 A C snp nonsynonymous SNV A2327C Y776S aromatic,polar,hydrophobic polar,hydrophilic,neutral TROAP Troap ENSG00000135451 trophinin associated protein chr12:49717019-49725514 GO:0007155;cell adhesion;TAS GO:0005737;cytoplasm;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TROAP https://www.uniprot.org/uniprot/Q12815 https://www.ncbi.nlm.nih.gov/omim/?term=603872 http://www.informatics.jax.org/searchtool/Search.do?query=TROAP&submit=Quick%0D%7157ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TROAP rs3088008 0.143371 0.1899 0.1594 0.10 1 10 intronic exonic exonic TROAP TROAP ENSG00000135451 Na nonsynonymous SNV unknown Na TROAP:uc009zlh.3:exon13:c.A2327C:p.Y776S, UNKNOWN Het;A>C 271;23|13 Hom;A>C 1318;0|44 N N - 12 49951377 49951377 C T snp nonsynonymous SNV C2893T R965C polar,hydrophilic,charged(+) polar,hydrophobic,neutral KCNH3 Kcnh3 ENSG00000135519 potassium voltage-gated channel subfamily H member 3 chr12:49932940-49952091 The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] Breath Tests Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures. Voltage gated Potassium channels GO:0000160;phosphorelay signal transduction system;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000155;phosphorelay sensor kinase activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNH3 https://www.uniprot.org/uniprot/Q9ULD8 https://www.ncbi.nlm.nih.gov/omim/?term=604527 http://www.informatics.jax.org/searchtool/Search.do?query=KCNH3&submit=Quick%0D%7172ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNH3 rs59261129 0.0732827 0.0902 0.0660 0.46 6 13 exonic exonic exonic KCNH3 KCNH3 ENSG00000135519 nonsynonymous SNV nonsynonymous SNV unknown KCNH3:NM_012284:exon15:c.C2893T:p.R965C, KCNH3:uc010smj.1:exon15:c.C2713T:p.R905C,KCNH3:uc001ruh.1:exon15:c.C2893T:p.R965C, UNKNOWN Het;C>T 1344;65|65 Hom;C>T 2980;2|111 N N - 12 49993678 49993678 C T snp nonsynonymous SNV G1745A R582Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral FAM186B Fam186b ENSG00000135436 family with sequence similarity 186 member B chr12:49976668-49999422 This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] GO:0043234;protein complex;IDA http://www.genecards.org/index.php?path=/Search/keyword/FAM186B https://www.uniprot.org/uniprot/Q8IYM0 http://www.informatics.jax.org/searchtool/Search.do?query=FAM186B&submit=Quick%0D%7150ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM186B rs52824916 0.113219 0.1143 0.0958 0.15 2 13 exonic exonic exonic FAM186B FAM186B ENSG00000135436 nonsynonymous SNV nonsynonymous SNV unknown FAM186B:NM_032130:exon4:c.G1745A:p.R582Q, FAM186B:uc010smk.2:exon4:c.G1475A:p.R492Q,FAM186B:uc001ruo.3:exon4:c.G1745A:p.R582Q, UNKNOWN Het;C>T 1342;57|57 Hom;C>T 2909;0|100 N N - 12 52818504 52818504 T G snp nonsynonymous SNV A1453C S485R polar,hydrophilic,neutral polar,hydrophilic,charged(+) KRT75 Krt75 ENSG00000170454 keratin 75 chr12:52817854-52828309 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008] PSEUDOFOLLICULITIS BARBAE SUSCEPTIBILITY TO Mice homozygous for a knock-in mutation that results in the deletion of the highly conserved asparagine residue (N159) in the helix initiation peptide of this gene develop hair shaft and nail abnormalities resembling pachyonychia congenita. Formation of the cornified envelope GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0031424;keratinization;TAS|GO:0070268;cornification;TAS GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IDA|GO:0045095;keratin filament;IEA|GO:0070062;extracellular exosome;IDA GO:0005198;structural molecule activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KRT75 https://www.ncbi.nlm.nih.gov/omim/?term=609025 http://www.informatics.jax.org/searchtool/Search.do?query=KRT75&submit=Quick%0D%12708ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRT75 rs298104 0.642372 0.6439 0.6333 0.23 3 13 exonic exonic exonic KRT75 KRT75 ENSG00000170454 nonsynonymous SNV nonsynonymous SNV unknown KRT75:NM_004693:exon9:c.A1453C:p.S485R, KRT75:uc001saj.2:exon9:c.A1453C:p.S485R, UNKNOWN Het;T>G 851;46|39 Hom;T>G 1771;0|61 N N - 12 53452263 53452274 CCAGGTGGCAGG C indel nonframeshift substitution 1259_1262C TENC1 rs376058712 0.707468 0.5055 0.5245 1 0 0 intronic exonic intronic TNS2 TENC1 ENSG00000111077 Na nonframeshift substitution Na Na TENC1:uc001sbo.1:exon15:c.1259_1262C, Na Het;-CAGGTGGCAGG 1656;47|45 Hom;-CAGGTGGCAGG 2871;0|65 N N - 12 54496166 54496166 G T snp nonsynonymous SNV G145T A49S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral LOC100240734 rs3195797 0.690495 0 0.7089 1 0 0 ncRNA_exonic exonic ncRNA_exonic LOC100240734 LOC100240734 ENSG00000249388 Na nonsynonymous SNV Na Na LOC100240734:uc010sos.2:exon1:c.G145T:p.A49S, Na Het;G>T 1254;57|57 Hom;G>T 3521;0|125 N N - 12 58015494 58015494 G A snp nonsynonymous SNV G577A A193T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral SLC26A10 Slc26a10 ENSG00000135502 solute carrier family 26 member 10 chr12:58013310-58019934 GO:0006810;transport;IEA|GO:0008272;sulfate transport;IEA|GO:0015701;bicarbonate transport;IBA|GO:0019532;oxalate transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0051453;regulation of intracellular pH;IBA|GO:0055085;transmembrane transport;IEA|GO:1902358;sulfate transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005254;chloride channel activity;IBA|GO:0008271;secondary active sulfate transmembrane transporter activity;IEA|GO:0015106;bicarbonate transmembrane transporter activity;IBA|GO:0015116;sulfate transmembrane transporter activity;IEA|GO:0015297;antiporter activity;IEA|GO:0015301;anion:anion antiporter activity;IBA|GO:0019531;oxalate transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC26A10 https://www.uniprot.org/uniprot/Q8NG04 http://www.informatics.jax.org/searchtool/Search.do?query=SLC26A10&submit=Quick%0D%7168ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC26A10 rs923828 0.265176 0.3501 0.4373 0.58 7 12 exonic exonic exonic SLC26A10 SLC26A10 ENSG00000135502 nonsynonymous SNV nonsynonymous SNV unknown SLC26A10:NM_133489:exon4:c.G577A:p.A193T, SLC26A10:uc001spe.3:exon4:c.G577A:p.A193T, UNKNOWN Het;G>A 714;29|34 Hom;G>A 2251;2|87 N N - 12 58026001 58026001 G A snp nonsynonymous SNV C146T P49L hydrophobic,neutral aliphatic,hydrophobic,neutral B4GALNT1 B4galnt1 ENSG00000135454 beta-1,4-N-acetyl-galactosaminyltransferase 1 chr12:58017193-58027138 GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] diabetes, type 1 ; Autoimmune Diseases Mice homozygous for one knock-out allele lack all complex gangliosides but show normal brain histology and gross behavior with only subtle defects in neural conduction velocities. Mice homozygous for another knock-out allele exhibit male infertility due to degeneration of the seminiferous tubules. Glycosphingolipid metabolism GO:0001574;ganglioside biosynthetic process;IMP|GO:0005975;carbohydrate metabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0019915;lipid storage;IEA|GO:0030259;lipid glycosylation;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA GO:0003947;(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity;TAS|GO:0008376;acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/B4GALNT1 https://www.uniprot.org/uniprot/Q00973 https://hpo.jax.org/app/browse/search?q=B4GALNT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601873 http://www.informatics.jax.org/searchtool/Search.do?query=B4GALNT1&submit=Quick%0D%7159ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B4GALNT1 rs2307095 0.272364 0 0.3336 1 0 0 intronic exonic intronic B4GALNT1 B4GALNT1 ENSG00000135454 Na nonsynonymous SNV Na Na B4GALNT1:uc010srw.1:exon1:c.C146T:p.P49L, Na Het;G>A 77;7|4 Hom;G>A 325;0|12 N N - 12 661656 661656 A G snp nonsynonymous SNV A1232G K411R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) B4GALNT3 B4galnt3 ENSG00000139044 beta-1,4-N-acetyl-galactosaminyltransferase 3 chr12:569530-672675 B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008] Death, Sudden, Cardiac|Heart Diseases|Sudden Cardiac Death; Tobacco Use Disorder GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0008376;acetylgalactosaminyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0033842;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/B4GALNT3 https://www.uniprot.org/uniprot/Q6L9W6 https://www.ncbi.nlm.nih.gov/omim/?term=612220 http://www.informatics.jax.org/searchtool/Search.do?query=B4GALNT3&submit=Quick%0D%7823ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B4GALNT3 rs7298766 0.272165 0.3142 0.2875 0.38 5 13 exonic exonic exonic B4GALNT3 B4GALNT3 ENSG00000139044 nonsynonymous SNV nonsynonymous SNV unknown B4GALNT3:NM_173593:exon13:c.A1232G:p.K411R, B4GALNT3:uc001qij.1:exon11:c.A938G:p.K313R,B4GALNT3:uc001qii.1:exon13:c.A1232G:p.K411R, UNKNOWN Het;A>G 474;20|24 Hom;A>G 1348;0|53 N N - 12 66725160 66725160 C T snp nonsynonymous SNV C2897T P966L hydrophobic,neutral aliphatic,hydrophobic,neutral HELB Helb ENSG00000127311 DNA helicase B chr12:66696325-66737423 This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Homozygous knockout MEFs display increased DNA end resection, resulting in increased level of single-strand DNA formation at double-strand DNA breaks. GO:0006260;DNA replication;IMP|GO:0006261;DNA-dependent DNA replication;IEA|GO:0006269;DNA replication, synthesis of RNA primer;IDA|GO:0006281;DNA repair;IEA|GO:0006396;RNA processing;IBA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:1903775;regulation of DNA double-strand break processing;IMP|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IMP GO:0005634;nucleus;IEA|GO:0005658;alpha DNA polymerase:primase complex;IDA|GO:0005662;DNA replication factor A complex;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0035861;site of double-strand break;IMP GO:0000166;nucleotide binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017116;single-stranded DNA-dependent ATP-dependent DNA helicase activity;IDA|GO:0043141;ATP-dependent 5'-3' DNA helicase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HELB https://www.uniprot.org/uniprot/Q8NG08 https://www.ncbi.nlm.nih.gov/omim/?term=614539 http://www.informatics.jax.org/searchtool/Search.do?query=HELB&submit=Quick%0D%6017ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HELB rs1185244 0.477835 0.4150 0.4793 0.08 1 13 exonic exonic exonic HELB HELB ENSG00000127311 nonsynonymous SNV nonsynonymous SNV unknown HELB:NM_033647:exon12:c.C2897T:p.P966L, HELB:uc001sti.3:exon12:c.C2897T:p.P966L, UNKNOWN Het;C>T 1538;92|74 Hom;C>T 3390;0|125 N N - 12 68552041 68552042 TA T indel splicing IFNG Ifng ENSG00000111537 interferon gamma chr12:68548548-68553527 This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015] Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; pancreatitis, chronic; celiac disease; Adenocarcinoma|Cachexia|Pancreatic Neoplasms|Pancreatitis; Leptospirosis|Swamp fever; graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis; Hodgkin Disease|Lymphoma|Lymphoma, Non-Hodgkin; Type 2 Diabetes| edema | rosiglitazone; Helicobacter Infections; Inflammation; SIDS/sudden infant death syndrome; arthritis; Parkinson's disease ; Common Variable Immunodeficiency; Psoriasis; preterm delivery; leukemia; Sarcoidosis, Pulmonary; coronary vasculopathy; pulmonary fibrosis; Communicable Diseases|Severe Acute Respiratory Syndrome; Hodgkin's disease; pancreatic cancer; liver transplant; diabetes, type 2; lymphoproliferative disorders, post-transplant; schistosoma mansoni; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; rheumatoid arthritis; brucellosis; stomach cancer; proliferative vitreoretinopathy rhegmatogenous retinal detachment; pregnancy loss; Bronchiolitis, Viral; renal transplantation, protein secretion in; childhood atopic asthma; kidney transplant; bullous pemphigoid; Inflammation|Premature Birth; Hepatitis C, Chronic|Liver Cirrhosis; renal allograft outcome; systemic lupus erythematosus; panencephalitis, subacute sclerosing; heart transplant; Tuberculosis, Pulmonary; esophageal cancer ; Dawson's inclusion body encephalitis|Subacute Sclerosing Panencephalitis; G6PD deficiency; SARS (severe acute respiratory syndrome); Respiratory Syncytial Virus Infections; Behcet Syndrome|; hepatitis C; longevity; Wegener's granulomatosis; multiple sclerosis; Cardiovascular Disease; nephropathy, IgA; juvenile arthritis; Common Cold|Otitis Media|Picornaviridae Infections; Asthma|; Common Variable Immunodeficiency|Cytomegalovirus Infections|Graft vs Host Disease|Hematologic Diseases|Recurrence; parvovirus; graft rejection, liver; heart transplant complications; anemia C-reactive protein; rubella vaccination; Helicobacter Infections|Inflammation|Precancerous Conditions|Stomach Neoplasms; liver disease; hepatitis C, chronic; Alphavirus Infections|Infectious Mononucleosis|Q Fever; Graves Disease|Hashimoto Disease; kidney transplant complications; Longevity; cytomegalovirus; sarcoidosis; Lymphoma, Non-Hodgkin; Wounds and Injuries; Hepatitis B, Chronic; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; birth weight perinatal complications; Graves' disease Hashimoto's thryoiditis; tuberculosis ; trypanosomiasis; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Acute Coronary Syndrome; Graves' disease; kidney graft survival; preeclampsia; psoriasis psoriatic arthritis; cervical cancer; liver transplantation, immunosuppression after; carotid plaque; Angina Pectoris|Coronary Artery Disease|Inflammation|Myocardial Infarction; atherosclerosis, coronary; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; mood disorders; Periodontitis; kidney; failure|Renal Insufficiency; arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI; Asthma; Chagas Cardiomyopathy|Chagas Disease; Cardiovascular Diseases; malaria; breast cancer; dermatitis and eczema; hepatitis B, intrauterine; Abortion, Spontaneous; Tobacco Use Disorder; inflammatory bowel disease; Rubella vaccine, cytokine response to; plasma HDL cholesterol (HDL-C) levels; Glomerulonephritis, IGA|IGA Glomerulonephritides|Recurrence; lung transplant complications; renal allograft rejection; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; Hepatitis C|Remission, Spontaneous; esophageal adenocarcinoma; Purpura, Thrombocytopenic, Idiopathic|Werlhof's disease; normal variation; Respiratory Tract Infections; ulcerative colitis; Autoimmune Diseases|Gastritis; disc disease, intervertebral; diabetes, type 1; hepatitis C, chronic; periodontitis; Infection|Inflammation|Premature Birth; Cervical Intraepithelial Neoplasia; angiomyolipomas, renal; Carcinoma, Hepatocellular|Diabetes Complications|Diabetes Mellitus|Inflammation|Liver Neoplasms; Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; Drug Hypersensitivity; desensitization in solid organ transplant recipients ; Graves ophthalmopathy; Anemia, Aplastic|; Bronchiolitis|Respiratory Syncytial Virus Infections; Myocardial Infarction; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; sarcoidosis; tuberculosis; psoriasis; leishmaniasis; Alzheimer's disease; Multiple Organ Failure|Multiple Trauma|Sepsis|Systemic infection; Atherosclerosis|Carotid artery stenosis|Carotid Stenosis|Inflammation; Epstein-Barr virus reactivation; aplastic anemia, acquired; cirrhosis hepatitis C, chronic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|Liver Cirrhosis; longevity; bladder cancer; renal transplant; Arthritis, Reactive|Campylobacter Infections|Salmonella Infections; sepsis; Leukemia, Lymphocytic, Chronic, B-Cell; Nasopharyngeal Neoplasms; Anemia, Sickle Cell|Bacterial Infections|Enterobacteriaceae Infections|Osteomyelitis|Sepsis|Sickle cell anemia|Staphylococcal Infections|Systemic infection|Unspecified osteomyelitis NOS; colorectal cancer; Alzheimer's Disease; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Omenn syndrome severe combined immunideficiency; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; atopic asthma; Sjogren's syndrome; purpura; tuberculosis; arthritis, rheumatoid; recurrent pregnancy loss; Irritable Bowel Syndrome; Lymphadenitis|Tuberculosis|Tuberculosis, Pulmonary; giant cell arteritis; polymyalgia rheumatica; parvovirus B19 infection; acute and chronic kidney transplant outcome; leishmaniasis, post-kala-azar; Cardiovascular Diseases|Inflammation; Aggressive Periodontitis|Periodontitis, Juvenile; Endometriosis; graft-vs-host disease; H. pylori infection; Uveomeningoencephalitic Syndrome; Graves' disease Hashimoto's thyroiditis; graft versus host disease; bone marrow transplantation; Hepatitis B; Hepatitis B|Hepatitis C|Reperfusion Injury; Lymphoma, Large B-Cell, Diffuse; lung cancer ; graft-versus-host disease; pregnancy loss, recurrent; Common Cold|; graves' ophthalmopathy; oral lichen planus; melanoma; cervical intraepithelial neoplasia grade 3; Lymphocytosis|Lymphoproliferative Disorders; Anemia, Aplastic|Aplastic anemia; lung cancer; hepatitis C; Schistosoma mansoni infection; cardiomyopathy; heart anomalies, congenital; heart failure; Fractures, Bone|Osteoporotic Fractures; Endotoxemia; pancreatitis; respiratory syncytial virus bronchiolitis; Boutonneuse Fever|; pemphigus vulgaris; Sjogren's syndrome; giant cell arteritis; myasthenia gravis; hepatitis C infection; chronic fatigue syndrome; hepatitis B and C virus infection; Dengue Hemorrhagic Fever; Scleroderma, Systemic; Coronary Disease; Chorioretinitis|Ocular Toxoplasmosis|Toxoplasmosis, Ocular; Tuberculosis|Tuberculosis, Pulmonary; Arthritis|Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Hepatitis B, Chronic|Viremia; malaria, plasmodium falciparum; Epstein-Barr Virus Infections|Lymphoproliferative Disorders; hepatitis B; preterm birth; Hepatitis C|Pregnancy Complications, Infectious; bronchiolitis; Leprosy; Infection|Postoperative Complications; leukemia, acute myeloid; longevity; myelodysplasia; allograft outcome; kidney angiomyolipomas; Diabetes mellitus|Myocardial Infarction; allergic rhinitis; cell-surface B7 expression; cytokine production; lung function; Severe Acute Respiratory Syndrome; Lichen Planus, Oral; leishmaniasis, cutaneous; interstitial lung diseases; allergies; common cold; smoking cessation; asthma; bronchiectasis; liver cancer; SPT; patent ductus arteriosus; measles vaccine immunity; Toxoplasmosis, Ocular; Osteolysis|Prosthesis Failure; Sarcoidosis; Chronic renal failure|Kidney Failure, Chronic; Q fever; respiratory syncytial virus; lung allograft fibrosis; hepatitis B, chronic IgE; Langerhans cell histiocytosis; Kidney Diseases; Chlamydia Infections|Infertility, Female; Hepatitis C; Brucellosis; Grave`s disease; uveitis; HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate; tryptophan catabolism; null; Clonorchiasis|Fibrosis; Vitiligo; Lung Diseases; atopy; Tuberculosis; bronchodilator response; atherosclerosis; Neovascularization, Pathologic|Retinal Vasculitis; kidney cancer; nephropathy; HIV; endometriosis; aplastic anemia; Graves Disease|Graves' Disease; hepatitis C; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Body Mass Index; c-reactive protein cytokine mRNA; hepatitis E; idiopathic inflammatory myopathies; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; bronchiolitis obliterans syndrome; coeliac disease; paratyphoid feber typhoid fever; Gingival Hemorrhage|Periodontal Pocket|Periodontitis Mutants show immune system abnormalities including decreased inflammatory response in one line, and uncontrolled splenocyte proliferation and susceptibility to intracellular pathogens in another. Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation GO:0000060;protein import into nucleus, translocation;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001781;neutrophil apoptotic process;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002026;regulation of the force of heart contraction;IEA|GO:0002250;adaptive immune response;IEA|GO:0002302;CD8-positive, alpha-beta T cell differentiation involved in immune response;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IGI|GO:0006925;inflammatory cell apoptotic process;IEA|GO:0006928;movement of cell or subcellular component;TAS|GO:0006955;immune response;IEA|GO:0006959;humoral immune response;IEA|GO:0007050;cell cycle arrest;IDA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009615;response to virus;IDA|GO:0010508;positive regulation of autophagy;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010634;positive regulation of epithelial cell migration;IDA|GO:0010835;regulation of protein ADP-ribosylation;IDA|GO:0019882;antigen processing and presentation;IEA|GO:0030593;neutrophil chemotaxis;IEA|GO:0030857;negative regulation of epithelial cell differentiation;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0031642;negative regulation of myelination;IEA|GO:0032224;positive regulation of synaptic transmission, cholinergic;IEA|GO:0032700;negative regulation of interleukin-17 production;IDA|GO:0032735;positive regulation of interleukin-12 production;IDA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0032834;positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response;IDA|GO:0033141;positive regulation of peptidyl-serine phosphorylation of STAT protein;NAS|GO:0033160;positive regulation of protein import into nucleus, translocation;IDA|GO:0034393;positive regulation of smooth muscle cell apoptotic process;IDA|GO:0040008;regulation of growth;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0042742;defense response to bacterium;IEA|GO:0042832;defense response to protozoan;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0044146;negative regulation of growth of symbiont involved in interaction with host;IEA|GO:0045080;positive regulation of chemokine biosynthetic process;IEA|GO:0045084;positive regulation of interleukin-12 biosynthetic process;IEA|GO:0045348;positive regulation of MHC class II biosynthetic process;IEA|GO:0045410;positive regulation of interleukin-6 biosynthetic process;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045672;positive regulation of osteoclast differentiation;IDA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048147;negative regulation of fibroblast proliferation;IEA|GO:0048304;positive regulation of isotype switching to IgG isotypes;IEA|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA|GO:0050691;regulation of defense response to virus by host;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IEA|GO:0050776;regulation of immune response;IEA|GO:0050796;regulation of insulin secretion;IDA|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050954;sensory perception of mechanical stimulus;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051607;defense response to virus;IEA|GO:0051712;positive regulation of killing of cells of other organism;IDA|GO:0060251;regulation of glial cell proliferation;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060334;regulation of interferon-gamma-mediated signaling pathway;TAS|GO:0060550;positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity;IDA|GO:0060552;positive regulation of fructose 1,6-bisphosphate metabolic process;IDA|GO:0060557;positive regulation of vitamin D biosynthetic process;IDA|GO:0060559;positive regulation of calcidiol 1-monooxygenase activity;IDA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071351;cellular response to interleukin-18;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0072125;negative regulation of glomerular mesangial cell proliferation;IEA|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:0090312;positive regulation of protein deacetylation;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0098908;regulation of neuronal action potential;IEA|GO:1903543;positive regulation of exosomal secretion;IDA|GO:1904798;positive regulation of core promoter binding;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IDA|GO:2000345;regulation of hepatocyte proliferation;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043204;perikaryon;IEA GO:0005125;cytokine activity;IEA|GO:0005133;interferon-gamma receptor binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/IFNG https://www.uniprot.org/uniprot/P01579 https://hpo.jax.org/app/browse/search?q=IFNG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147570 http://www.informatics.jax.org/searchtool/Search.do?query=IFNG&submit=Quick%0D%4086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFNG rs2234686 0.625799 0 0.5973 1 0 0 splicing splicing splicing IFNG IFNG ENSG00000111537 Na Na Na Na Na Na Het;-A 631;25|39 Hom;-A 1046;4|53 N N - 12 71523134 71523134 A C snp nonsynonymous SNV T637G S213A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral TSPAN8 Tspan8 ENSG00000127324 tetraspanin 8 chr12:71518865-71835678 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8 https://www.uniprot.org/uniprot/P19075 https://www.ncbi.nlm.nih.gov/omim/?term=600769 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8 rs1051334 0.250799 0.3355 0.3449 0.23 3 13 exonic exonic exonic TSPAN8 TSPAN8 ENSG00000127324 nonsynonymous SNV nonsynonymous SNV unknown TSPAN8:NM_004616:exon8:c.T637G:p.S213A, TSPAN8:uc009zrt.1:exon7:c.T637G:p.S213A,TSPAN8:uc001swk.1:exon11:c.T637G:p.S213A,TSPAN8:uc001swj.1:exon8:c.T637G:p.S213A, UNKNOWN Het;A>C 516;12|25 Hom;A>C 1673;0|62 N N - 12 72028607 72028608 TA T indel splicing ZFC3H1 Zfc3h1 ENSG00000133858 zinc finger C3H1-type containing chr12:72003252-72061505 Coronary Artery Disease; Lipoproteins GO:0006396;RNA processing;IEA GO:0005615;extracellular space;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFC3H1 https://www.uniprot.org/uniprot/O60293 http://www.informatics.jax.org/searchtool/Search.do?query=ZFC3H1&submit=Quick%0D%6878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFC3H1 rs34399921 0.432708 0 0.5258 1 0 0 splicing splicing splicing ZFC3H1 ZFC3H1 ENSG00000133858 Na Na Na Na Na Na Het;-A 512;8|30 Hom;-A 1051;6|54 N N - 12 7805236 7805236 C G snp nonsynonymous SNV G105C M35I hydrophobic,neutral aliphatic,hydrophobic,neutral APOBEC1 Apobec1 ENSG00000111701 apolipoprotein B mRNA editing enzyme catalytic subunit 1 chr12:7801996-7818499 This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015] Biliary calculi|Gallstones; Hepatitis C|Remission, Spontaneous; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit abnormal lipid homeostasis. Formation of the Editosome GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006641;triglyceride metabolic process;IEA|GO:0006970;response to osmotic stress;IEA|GO:0009972;cytidine deamination;IEA|GO:0010043;response to zinc ion;IEA|GO:0010332;response to gamma radiation;IEA|GO:0016554;cytidine to uridine editing;TAS|GO:0016556;mRNA modification;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042953;lipoprotein transport;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0045471;response to ethanol;IEA|GO:0048255;mRNA stabilization;IEA|GO:0051592;response to calcium ion;IEA|GO:0051607;defense response to virus;IEA|GO:0070383;DNA cytosine deamination;IEA|GO:0080111;DNA demethylation;IEA|GO:0090209;negative regulation of triglyceride metabolic process;IEA|GO:0090310;negative regulation of methylation-dependent chromatin silencing;IEA|GO:0090366;positive regulation of mRNA modification;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA GO:0003723;RNA binding;TAS|GO:0003729;mRNA binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004126;cytidine deaminase activity;TAS|GO:0004131;cytosine deaminase activity;IEA|GO:0005515;protein binding;IPI|GO:0008047;enzyme activator activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0016814;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines;IEA|GO:0017091;AU-rich element binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0043021;ribonucleoprotein complex binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/APOBEC1 https://www.uniprot.org/uniprot/P41238 https://www.ncbi.nlm.nih.gov/omim/?term=600130 http://www.informatics.jax.org/searchtool/Search.do?query=APOBEC1&submit=Quick%0D%4116ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APOBEC1 rs2302515 0.659145 0.7787 0.7853 0.08 1 13 exonic exonic exonic APOBEC1 APOBEC1 ENSG00000111701 nonsynonymous SNV nonsynonymous SNV unknown APOBEC1:NM_005889:exon2:c.G105C:p.M35I,APOBEC1:NM_001644:exon3:c.G240C:p.M80I,APOBEC1:NM_001304566:exon4:c.G240C:p.M80I, APOBEC1:uc001qtb.3:exon3:c.G240C:p.M80I,APOBEC1:uc001qtc.3:exon2:c.G105C:p.M35I, UNKNOWN Het;C>G 1852;80|81 Hom;C>G 3801;0|130 N N - 12 80747242 80747242 A G snp nonsynonymous SNV A5518G I1840V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs7297767 0.834065 0.8454 0.8531 0.20 2 10 exonic exonic exonic OTOGL OTOGL ENSG00000165899 nonsynonymous SNV nonsynonymous SNV unknown OTOGL:NM_173591:exon45:c.A5518G:p.I1840V, OTOGL:uc001szd.3:exon45:c.A5518G:p.I1840V, UNKNOWN Het;A>G 920;55|42 Hom;A>G 2936;0|104 N N - 12 80761430 80761430 G A snp nonsynonymous SNV G6394A A2132T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs1551118 0.678115 0.7180 0.7868 0.08 1 13 exonic exonic exonic OTOGL OTOGL ENSG00000165899 nonsynonymous SNV nonsynonymous SNV unknown OTOGL:NM_173591:exon53:c.G6394A:p.A2132T, OTOGL:uc001szd.3:exon53:c.G6394A:p.A2132T,OTOGL:uc009zsg.2:exon8:c.G34A:p.A12T,OTOGL:uc021rba.1:exon7:c.G451A:p.A151T, UNKNOWN Het;G>A 1118;57|54 Hom;G>A 4100;1|158 N N - 12 80765800 80765800 A G snp nonsynonymous SNV A6710G N2237S polar,hydrophilic,neutral polar,hydrophilic,neutral OTOGL Otogl ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL rs1551122 0.484026 0.4965 0.5893 0.62 8 13 exonic exonic exonic OTOGL OTOGL ENSG00000165899 nonsynonymous SNV nonsynonymous SNV unknown OTOGL:NM_173591:exon56:c.A6710G:p.N2237S, OTOGL:uc001szd.3:exon56:c.A6710G:p.N2237S,OTOGL:uc009zsg.2:exon11:c.A350G:p.N117S,OTOGL:uc021rba.1:exon10:c.A767G:p.N256S, UNKNOWN Het;A>G 1747;96|81 Hom;A>G 4021;0|147 N N - 12 85438499 85438499 G A snp nonsynonymous SNV G248A C83Y polar,hydrophobic,neutral aromatic,polar,hydrophobic LRRIQ1 Lrriq1 ENSG00000133640 leucine rich repeats and IQ motif containing 1 chr12:85430092-85657002 Tobacco Use Disorder http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1 https://www.uniprot.org/uniprot/Q96JM4 http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1 rs3765044 0.206669 0.2052 0.2606 0.08 1 13 exonic exonic exonic LRRIQ1 LRRIQ1 ENSG00000133640 nonsynonymous SNV nonsynonymous SNV unknown LRRIQ1:NM_001079910:exon4:c.G248A:p.C83Y, LRRIQ1:uc001taa.1:exon4:c.G248A:p.C83Y,LRRIQ1:uc001tac.3:exon4:c.G248A:p.C83Y, UNKNOWN Het;G>A 516;29|25 Hom;G>A 1357;2|52 N N - 12 85466723 85466723 G A snp nonsynonymous SNV G2734A A912T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral LRRIQ1 Lrriq1 ENSG00000133640 leucine rich repeats and IQ motif containing 1 chr12:85430092-85657002 Tobacco Use Disorder http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1 https://www.uniprot.org/uniprot/Q96JM4 http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1 rs17012533 0.206869 0.2089 0.2607 0.08 1 13 exonic exonic exonic LRRIQ1 LRRIQ1 ENSG00000133640 nonsynonymous SNV nonsynonymous SNV unknown LRRIQ1:NM_001079910:exon11:c.G2734A:p.A912T, LRRIQ1:uc021rbo.1:exon7:c.G2368A:p.A790T,LRRIQ1:uc001tac.3:exon11:c.G2734A:p.A912T, UNKNOWN Het;G>A 1077;54|52 Hom;G>A 2054;0|79 N N - 12 85638645 85638646 GA G indel frameshift substitution 5095_5096G LRRIQ1 Lrriq1 ENSG00000133640 leucine rich repeats and IQ motif containing 1 chr12:85430092-85657002 Tobacco Use Disorder http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1 https://www.uniprot.org/uniprot/Q96JM4 http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1 rs398102301 0.197883 0.2576 0.2853 1 0 0 exonic exonic exonic LRRIQ1 LRRIQ1 ENSG00000133640 frameshift substitution frameshift substitution unknown LRRIQ1:NM_001079910:exon27:c.5095_5096G, LRRIQ1:uc001tac.3:exon27:c.5095_5096G, UNKNOWN Het;-A 387;44|26 Hom;-A 2181;5|96 N N - 12 93721801 93721801 A G snp splicing 277+2T>C LOC643339 rs7976742 0.336462 0 0.3733 1 0 0 ncRNA_splicing splicing ncRNA_exonic;splicing LOC643339(NR_040096:exon3:c.329+2T>C) LOC643339(uc021rbu.1:exon3:c.277+2T>C) ENSG00000257252;ENSG00000257252(ENST00000552835:exon4:c.407+2T>C) Na Na Na Na Na Na Het;A>G 1197;55|56 Hom;A>G 2696;0|99 N N - 13 101287340 101287340 C T snp nonsynonymous SNV G1255A V419I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TMTC4 Tmtc4 ENSG00000125247 transmembrane and tetratricopeptide repeat containing 4 chr13:101256181-101327347 Alcohol Drinking Mice homozygous for a knock-out allele exhibit early-onset hearing loss associated with progressive degeneration of cochlear outer hair cells, inner hair cells and supporting cells, increased endoplasmic reticulum (ER) stress, and altered ER Ca2+ dynamics. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMTC4 https://www.uniprot.org/uniprot/Q5T4D3 http://www.informatics.jax.org/searchtool/Search.do?query=TMTC4&submit=Quick%0D%5749ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC4 rs946837 0.389377 0.3180 0.3469 0.08 1 13 exonic exonic exonic TMTC4 TMTC4 ENSG00000125247 nonsynonymous SNV nonsynonymous SNV unknown TMTC4:NM_001079669:exon10:c.G1255A:p.V419I,TMTC4:NM_032813:exon11:c.G1312A:p.V438I,TMTC4:NM_001286453:exon8:c.G922A:p.V308I, TMTC4:uc010tja.2:exon8:c.G922A:p.V308I,TMTC4:uc001vou.3:exon10:c.G1255A:p.V419I,TMTC4:uc001vow.1:exon5:c.G604A:p.V202I,TMTC4:uc001vot.3:exon11:c.G1312A:p.V438I,TMTC4:uc001vov.1:exon3:c.G490A:p.V164I, UNKNOWN Het;C>T 1420;80|71 Hom;C>T 3701;1|141 N N - 13 106119446 106119446 G A snp nonsynonymous SNV G89A R30K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) DAOA ENSG00000182346 D-amino acid oxidase activator chr13:106118216-106143383 This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011] Breath Tests; Hip; cognitive function schizophrenia; Glomerular Filtration Rate; schizophrenia; affective disorder; schizophrenia; psychoses; Body Height; Triglycerides; autism; Stroke; Schizophrenia; Macular Degeneration; Arteries; null; delusional disorder; Alzheimer's disease ; Carotid Artery Diseases; mood disorders; Mental Disorders; cognitive function schizotypy; Lipoproteins; Socioeconomic Factors; methamphetamine psychosis; normal variation; Schizophrenia|bipolar disorder; Marijuana Abuse|Psychoses, Substance-Induced; Carotid Arteries; bipolar disorder mood disorder schizophrenia; cognitive ability; depression; Creatinine; bipolar disorder schizophrenia; bipolar disorder; Erythrocytes; Bipolar Disorder GO:0043085;positive regulation of catalytic activity;IDA|GO:1900758;negative regulation of D-amino-acid oxidase activity;IDA GO:0005739;mitochondrion;IDA|GO:0005794;Golgi apparatus;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0008047;enzyme activator activity;IDA|GO:0019899;enzyme binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DAOA https://www.ncbi.nlm.nih.gov/omim/?term=607408 http://www.informatics.jax.org/searchtool/Search.do?query=DAOA&submit=Quick%0D%14777ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DAOA rs2391191 0.361821 0.2937 0.3898 0.08 1 12 exonic exonic exonic DAOA DAOA ENSG00000182346 nonsynonymous SNV nonsynonymous SNV unknown DAOA:NM_172370:exon2:c.G89A:p.R30K, DAOA:uc001vqb.3:exon2:c.G89A:p.R30K, UNKNOWN Het;G>A 987;43|47 Hom;G>A 1973;1|75 N N - 13 111111235 111111235 G A snp nonsynonymous SNV G1550A R517K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) COL4A2 Col4a2 ENSG00000134871 collagen type IV alpha 2 chain chr13:110958159-111165374 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008] Alcoholism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Vascular Calcification; Type 2 Diabetes| edema | rosiglitazone; Angiography; Mental Disorders; Coronary Artery Disease; Body Mass Index; prostate cancer ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes. Collagen chain trimerization GO:0001525;angiogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0038063;collagen-activated tyrosine kinase receptor signaling pathway;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005587;collagen type IV trimer;TAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COL4A2 https://www.uniprot.org/uniprot/P08572 https://hpo.jax.org/app/browse/search?q=COL4A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120090 http://www.informatics.jax.org/searchtool/Search.do?query=COL4A2&submit=Quick%0D%7047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL4A2 rs7990383 0.509185 0.6346 0.5390 0.15 2 13 exonic exonic exonic COL4A2 COL4A2 ENSG00000134871 nonsynonymous SNV nonsynonymous SNV unknown COL4A2:NM_001846:exon22:c.G1550A:p.R517K, COL4A2:uc001vqx.3:exon22:c.G1550A:p.R517K, UNKNOWN Het;G>A 878;68|46 Hom;G>A 3560;0|138 N N - 13 114057712 114057712 G A snp nonsynonymous SNV C4793T T1598M polar,hydrophilic,neutral hydrophobic,neutral LOC101928841 rs9603837 0.544529 0 0 1 0 0 exonic intergenic intergenic LOC101928841 GRTP1(dist=39249),ADPRHL1(dist=18548) ENSG00000139835(dist=39271),ENSG00000153531(dist=18548) nonsynonymous SNV Na Na LOC101928841:NM_001304433:exon2:c.C4793T:p.T1598M, Na Na Het;G>A 1095;38|54 Hom;G>A 2142;0|82 N N - 13 114060985 114060985 C CAAG indel nonframeshift substitution 1520_1520delinsCTTG LOC101928841 rs35896628 0.555112 0 0 1 0 0 exonic intergenic intergenic LOC101928841 GRTP1(dist=42522),ADPRHL1(dist=15275) ENSG00000139835(dist=42544),ENSG00000153531(dist=15275) nonframeshift substitution Na Na LOC101928841:NM_001304433:exon2:c.1520_1520delinsCTTG, Na Na Het;+AAG 2222;62|56 Hom;+AAG 4890;1|108 N N - 13 114175038 114175038 G A snp nonsynonymous SNV G1333A A445T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral TMCO3 Tmco3 ENSG00000150403 transmembrane and coiled-coil domains 3 chr13:114145310-114204542 GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0022890;inorganic cation transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TMCO3 https://www.uniprot.org/uniprot/Q6UWJ1 https://www.ncbi.nlm.nih.gov/omim/?term=617134 http://www.informatics.jax.org/searchtool/Search.do?query=TMCO3&submit=Quick%0D%9315ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMCO3 rs7319493 0.191693 0.1680 0.1816 0.08 1 13 exonic exonic exonic TMCO3 TMCO3 ENSG00000150403 nonsynonymous SNV nonsynonymous SNV unknown TMCO3:NM_017905:exon8:c.G1333A:p.A445T, TMCO3:uc001vtt.4:exon8:c.G1333A:p.A445T,TMCO3:uc001vtu.4:exon8:c.G1333A:p.A445T, UNKNOWN Het;G>A 1860;116|92 Hom;G>A 3899;1|149 N N - 13 114623880 114623880 G A snp nonsynonymous SNV G718A V240M aliphatic,hydrophobic,neutral hydrophobic,neutral LINC00452 rs7399982 0.804912 0 0.7454 1 0 0 exonic ncRNA_exonic ncRNA_exonic LINC00452 AK126042,BC068105 ENSG00000229373 nonsynonymous SNV Na Na LINC00452:NM_001278674:exon7:c.G718A:p.V240M, Na Na Het;G>A 1211;67|58 Hom;G>A 3114;1|113 N N - 13 21729952 21729952 T TA indel splicing 1120-2A>TA SKA3 Ska3 ENSG00000165480 spindle and kinetochore associated complex subunit 3 chr13:21727734-21750741 This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] GO:0000278;mitotic cell cycle;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0031110;regulation of microtubule polymerization or depolymerization;IDA|GO:0051301;cell division;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000940;condensed chromosome outer kinetochore;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005876;spindle microtubule;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SKA3 http://www.informatics.jax.org/searchtool/Search.do?query=SKA3&submit=Quick%0D%11548ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SKA3 rs11446085 0.289137 0 0 1 0 0 splicing splicing splicing SKA3(NM_145061:exon8:c.1120-2A>TA) SKA3(uc001unt.3:exon8:c.1120-2A>TA,uc001unv.3:exon7:c.874-2A>TA) ENSG00000165480(ENST00000314759:exon8:c.1120-2A>TA,ENST00000298260:exon7:c.1058-2A>TA,ENST00000462482:exon2:c.104-2A>TA) Na Na Na Na Na Na Het;+A 341;38|23 Hom;+A 1082;3|48 N N - 13 23907909 23907909 A G snp nonsynonymous SNV T9665C V3222A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SACS Sacs ENSG00000151835 sacsin molecular chaperone chr13:23902965-24007841 This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] Interleukin-12; protein quantitative trait loci; Hemoglobin A, Glycosylated; Hypothyroidism; Nasopharyngeal Neoplasms Mice homozygous for a knockout allele exhibit Purkinje cell degeneration with thickened tortuous dendrites and altered mitochondrial dysfunction. GO:0006457;protein folding;NAS|GO:0090084;negative regulation of inclusion body assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0030424;axon;TAS|GO:0030425;dendrite;TAS|GO:0070852;cell body fiber;TAS GO:0030544;Hsp70 protein binding;IPI|GO:0051087;chaperone binding;IDA|GO:0070628;proteasome binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SACS https://www.uniprot.org/uniprot/Q9NZJ4 https://hpo.jax.org/app/browse/search?q=SACS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604490 http://www.informatics.jax.org/searchtool/Search.do?query=SACS&submit=Quick%0D%9477ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SACS rs17078605 0.258986 0.2046 0.2778 0.62 8 13 exonic exonic exonic SACS SACS ENSG00000151835 nonsynonymous SNV nonsynonymous SNV unknown SACS:NM_001278055:exon8:c.T9665C:p.V3222A,SACS:NM_014363:exon10:c.T10106C:p.V3369A, SACS:uc001uoo.3:exon8:c.T9665C:p.V3222A,SACS:uc001uon.3:exon10:c.T10106C:p.V3369A, UNKNOWN Het;A>G 1270;80|58 Hom;A>G 3536;0|123 N N - 13 24895559 24895559 A G snp nonsynonymous SNV A655G M219V hydrophobic,neutral aliphatic,hydrophobic,neutral C1QTNF9 ENSG00000240654 C1q and TNF related 9 chr13:24881304-24896673 Mice homozygous for a knock-out allele exhibit increased caloric intake, increased percent body fat/body weight, obesity, insulin resistance, and hepatic steatosis. GO:0005576;extracellular region;IEA|GO:0005581;collagen trimer;IEA GO:0005179;hormone activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C1QTNF9 https://www.ncbi.nlm.nih.gov/omim/?term=614285 http://www.informatics.jax.org/searchtool/Search.do?query=C1QTNF9&submit=Quick%0D%19628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C1QTNF9 rs3751357 0 0 0.7473 0.15 2 13 exonic exonic exonic C1QTNF9 C1QTNF9 ENSG00000205850,ENSG00000240654 nonsynonymous SNV nonsynonymous SNV unknown C1QTNF9:NM_178540:exon4:c.A655G:p.M219V,C1QTNF9:NM_001303137:exon5:c.A655G:p.M219V,C1QTNF9:NM_001303138:exon4:c.A655G:p.M219V, C1QTNF9:uc001upj.3:exon4:c.A655G:p.M219V, UNKNOWN Het;A>G 2066;124|100 Hom;A>G 4310;2|146 N N - 13 25021245 25021245 A G snp nonsynonymous SNV T3194C V1065A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PARP4 Parp4 ENSG00000102699 poly(ADP-ribose) polymerase family member 4 chr13:24995064-25086948 This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008] lung cancer; head and neck cancer; Death, Sudden, Cardiac; Tobacco Use Disorder; Colorectal Neoplasms; Parkinson Disease; melanoma; stomach cancer; bladder cancer; chronic obstructive pulmonary disease; lung cancer Homozygous null mutants are helathy and fertile. Nicotinamide salvaging GO:0006281;DNA repair;NAS|GO:0006464;cellular protein modification process;IDA|GO:0006471;protein ADP-ribosylation;NAS|GO:0006810;transport;NAS|GO:0006954;inflammatory response;IMP|GO:0006974;cellular response to DNA damage stimulus;NAS|GO:0008219;cell death;IMP|GO:0042493;response to drug;NAS|GO:0051972;regulation of telomerase activity;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003677;DNA binding;TAS|GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019899;enzyme binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PARP4 https://www.uniprot.org/uniprot/Q9UKK3 https://www.ncbi.nlm.nih.gov/omim/?term=607519 http://www.informatics.jax.org/searchtool/Search.do?query=PARP4&submit=Quick%0D%2900ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARP4 rs7334587 0 0 0.5921 0.08 1 13 exonic exonic exonic PARP4 PARP4 ENSG00000102699 nonsynonymous SNV nonsynonymous SNV unknown PARP4:NM_006437:exon26:c.T3194C:p.V1065A, PARP4:uc001upl.3:exon26:c.T3194C:p.V1065A, UNKNOWN Het;A>G 2640;15|112 Hom;A>G 3108;2|118 N N - 13 25378476 25378476 A G snp nonsynonymous SNV A2000G H667R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) RNF17 Rnf17 ENSG00000132972 ring finger protein 17 chr13:25338290-25454059 This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010] Hemoglobin A, Glycosylated; Diabetic Nephropathies Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF17 https://www.uniprot.org/uniprot/Q9BXT8 https://www.ncbi.nlm.nih.gov/omim/?term=605793 http://www.informatics.jax.org/searchtool/Search.do?query=RNF17&submit=Quick%0D%6775ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF17 rs9511451 0.21246 0.2341 0.2586 0.08 1 13 exonic exonic exonic RNF17 RNF17 ENSG00000132972 nonsynonymous SNV nonsynonymous SNV unknown RNF17:NM_001184993:exon15:c.A2000G:p.H667R,RNF17:NM_031277:exon15:c.A2000G:p.H667R, RNF17:uc001ups.3:exon15:c.A1817G:p.H606R,RNF17:uc010tde.2:exon15:c.A2000G:p.H667R,RNF17:uc010tdd.1:exon14:c.A1577G:p.H526R,RNF17:uc001upr.3:exon15:c.A2000G:p.H667R, UNKNOWN Het;A>G 1190;53|58 Hom;A>G 2550;0|96 N N - 13 25440318 25440318 G A snp nonsynonymous SNV G4126A E1376K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) RNF17 Rnf17 ENSG00000132972 ring finger protein 17 chr13:25338290-25454059 This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010] Hemoglobin A, Glycosylated; Diabetic Nephropathies Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNF17 https://www.uniprot.org/uniprot/Q9BXT8 https://www.ncbi.nlm.nih.gov/omim/?term=605793 http://www.informatics.jax.org/searchtool/Search.do?query=RNF17&submit=Quick%0D%6775ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF17 rs9507425 0.212061 0.2342 0.2523 0.31 4 13 exonic exonic exonic RNF17 RNF17 ENSG00000132972 nonsynonymous SNV nonsynonymous SNV unknown RNF17:NM_001184993:exon30:c.G4126A:p.E1376K,RNF17:NM_031277:exon30:c.G4138A:p.E1380K, RNF17:uc001ups.3:exon30:c.G3955A:p.E1319K,RNF17:uc010tde.2:exon30:c.G4126A:p.E1376K,RNF17:uc010aac.3:exon14:c.G1714A:p.E572K,RNF17:uc001upr.3:exon30:c.G4138A:p.E1380K,RNF17:uc010aad.3:exon10:c.G1168A:p.E390K, UNKNOWN Het;G>A 373;31|21 Hom;G>A 907;0|35 N N - 13 25831888 25831888 T C snp nonsynonymous SNV A955G I319V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MTMR6 Mtmr6 ENSG00000139505 myotubularin related protein 6 chr13:25802307-25862147 Synthesis of PIPs at the plasma membrane GO:0006470;protein dephosphorylation;NAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0004438;phosphatidylinositol-3-phosphatase activity;TAS|GO:0004722;protein serine/threonine phosphatase activity;NAS|GO:0004725;protein tyrosine phosphatase activity;NAS|GO:0005515;protein binding;IPI|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0052629;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;TAS|GO:0052866;phosphatidylinositol phosphate phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTMR6 https://www.uniprot.org/uniprot/Q9Y217 https://www.ncbi.nlm.nih.gov/omim/?term=603561 http://www.informatics.jax.org/searchtool/Search.do?query=MTMR6&submit=Quick%0D%7891ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTMR6 rs7995033 0.492212 0.6352 0.6992 0.38 5 13 exonic exonic exonic MTMR6 MTMR6 ENSG00000139505 nonsynonymous SNV nonsynonymous SNV unknown MTMR6:NM_004685:exon8:c.A955G:p.I319V, MTMR6:uc001uqf.4:exon8:c.A955G:p.I319V,MTMR6:uc021rhi.1:exon3:c.A337G:p.I113V,MTMR6:uc001uqe.1:exon8:c.A955G:p.I319V, UNKNOWN Het;T>C 1108;55|51 Hom;T>C 2396;0|87 N N - 13 28624294 28624294 G A snp nonsynonymous SNV C680T T227M polar,hydrophilic,neutral hydrophobic,neutral FLT3 Flt3 ENSG00000122025 fms related tyrosine kinase 3 chr13:28577411-28674729 This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015] Leukemia, Myeloid|Translocation, Genetic; Leukemia, Myeloid, Acute|Neoplasm, Residual; Chromosome Aberrations|Chromosome abnormality|Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Leukemia, Myeloid; leukemia, lymphoid; Pancreatic Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Lymphoproliferative Disorders|Myelodysplastic Syndromes; leukemia; Leukemia, Promyelocytic, Acute; Leukemia, Myeloid, Acute|XYY Karyotype; longevity; Chromosome Aberrations|Leukemia, Myeloid, Acute; Leukemia, Myelomonocytic, Chronic; Alcoholism; Down Syndrome|Leukemia, Myeloid|Myeloid Leukemia; Type 2 Diabetes| edema | rosiglitazone; Precursor Cell Lymphoblastic Leukemia-Lymphoma; leukemia, acute myeloid; myeloid leukemia; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes; acute promyelocytic leukemia; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Tobacco Use Disorder; Leukemia, Myeloid, Acute; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; leukemia, acute lymphoblastic; Cell Transformation, Neoplastic|Leukemia, Myeloid|Myeloid Leukemia; acute myeloid leukemia; acute promyelocytic leukemia.; pharmacogenetic studies; null; leukemia, myeloid; osteoporosis; leukemia, myeloid myelodysplastic syndrome; Leukemia, Myeloid, Acute|Recurrence; Leukemia Mice functionally null for this gene display abnormal lymphopoiesis. Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus. Other interleukin signaling GO:0001776;leukocyte homeostasis;ISS|GO:0002318;myeloid progenitor cell differentiation;ISS|GO:0002328;pro-B cell differentiation;ISS|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010243;response to organonitrogen compound;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;TAS|GO:0019221;cytokine-mediated signaling pathway;ISS|GO:0030097;hemopoiesis;IDA|GO:0030154;cell differentiation;IEA|GO:0030183;B cell differentiation;ISS|GO:0031100;animal organ regeneration;IEA|GO:0035726;common myeloid progenitor cell proliferation;ISS|GO:0038084;vascular endothelial growth factor signaling pathway;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;TAS|GO:0042981;regulation of apoptotic process;TAS|GO:0043406;positive regulation of MAP kinase activity;TAS|GO:0043410;positive regulation of MAPK cascade;TAS|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;TAS|GO:0046651;lymphocyte proliferation;ISS|GO:0046777;protein autophosphorylation;TAS|GO:0071345;cellular response to cytokine stimulus;ISS|GO:0071385;cellular response to glucocorticoid stimulus;IEA|GO:0097028;dendritic cell differentiation;ISS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004896;cytokine receptor activity;ISS|GO:0005021;vascular endothelial growth factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035259;glucocorticoid receptor binding;IEA|GO:0042803;protein homodimerization activity;TAS|GO:0043621;protein self-association;IMP http://www.genecards.org/index.php?path=/Search/keyword/FLT3 https://www.uniprot.org/uniprot/P36888 https://hpo.jax.org/app/browse/search?q=FLT3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=136351 http://www.informatics.jax.org/searchtool/Search.do?query=FLT3&submit=Quick%0D%5374ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLT3 rs1933437 0.558706 0.5229 0.5988 0.62 8 13 exonic exonic exonic FLT3 FLT3 ENSG00000122025 nonsynonymous SNV nonsynonymous SNV unknown FLT3:NM_004119:exon6:c.C680T:p.T227M, FLT3:uc010tdn.2:exon6:c.C680T:p.T227M,FLT3:uc001urw.3:exon6:c.C680T:p.T227M, UNKNOWN Het;G>A 1205;104|69 Hom;G>A 3593;0|136 N N - 13 50141345 50141345 G A snp nonsynonymous SNV C71T A24V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RCBTB1 Rcbtb1 ENSG00000136144 RCC1 and BTB domain containing protein 1 chr13:50106082-50159719 This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008] Asthma|Eczema|Hay fever|Hypersensitivity|Respiratory Sounds|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0016569;covalent chromatin modification;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA http://www.genecards.org/index.php?path=/Search/keyword/RCBTB1 https://www.uniprot.org/uniprot/Q8NDN9 https://hpo.jax.org/app/browse/search?q=RCBTB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607867 http://www.informatics.jax.org/searchtool/Search.do?query=RCBTB1&submit=Quick%0D%7292ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RCBTB1 rs4942848 0.526158 0.5803 0.6165 0.54 7 13 exonic exonic exonic RCBTB1 RCBTB1 ENSG00000136144 nonsynonymous SNV nonsynonymous SNV unknown RCBTB1:NM_018191:exon3:c.C71T:p.A24V, RCBTB1:uc001vde.1:exon3:c.C71T:p.A24V, UNKNOWN Het;G>A 1538;85|75 Hom;G>A 3865;0|148 N N - 13 52515354 52515354 A G snp nonsynonymous SNV T3419C V1140A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ATP7B Atp7b ENSG00000123191 ATPase copper transporting beta chr13:52506809-52585630 This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008] Hepatolenticular Degeneration; Wilson disease, fine motor symptoms in; personality | Wilson disease; null; Alcoholism; Hepatolenticular Degeneration|Movement Disorders; Chronic renal failure|Kidney Failure, Chronic; liver disease; Wilson disease; arylsulfatase A pseudodeficiency; Hepatolenticular Degeneration|Liver Failure, Acute; Wilson disease Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice. Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006825;copper ion transport;IDA|GO:0006878;cellular copper ion homeostasis;TAS|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007595;lactation;IEA|GO:0015677;copper ion import;IDA|GO:0015680;intracellular copper ion transport;IEA|GO:0030001;metal ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035434;copper ion transmembrane transport;IEA|GO:0046688;response to copper ion;IDA|GO:0051208;sequestering of calcium ion;IDA|GO:0060003;copper ion export;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0032588;trans-Golgi network membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004008;copper-exporting ATPase activity;NAS|GO:0005375;copper ion transmembrane transporter activity;IDA|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;IEA|GO:0043682;copper-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP7B https://www.uniprot.org/uniprot/P35670 https://hpo.jax.org/app/browse/search?q=ATP7B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606882 http://www.informatics.jax.org/searchtool/Search.do?query=ATP7B&submit=Quick%0D%5500ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP7B rs1801249 0.540535 0.5776 0.5653 0.15 2 13 exonic exonic exonic ATP7B ATP7B ENSG00000123191 nonsynonymous SNV nonsynonymous SNV unknown ATP7B:NM_000053:exon16:c.T3419C:p.V1140A,ATP7B:NM_001005918:exon12:c.T2798C:p.V933A,ATP7B:NM_001243182:exon17:c.T3086C:p.V1029A, ATP7B:uc001vfv.2:exon9:c.T1235C:p.V412A,ATP7B:uc010tgt.1:exon15:c.T3224C:p.V1075A,ATP7B:uc001vfw.2:exon16:c.T3419C:p.V1140A,ATP7B:uc001vfy.2:exon17:c.T3086C:p.V1029A,ATP7B:uc001vfx.2:exon12:c.T2798C:p.V933A,ATP7B:uc010adv.2:exon8:c.T2129C:p.V710A,ATP7B:uc010tgs.1:exon9:c.T1052C:p.V351A,ATP7B:uc010tgv.1:exon15:c.T3185C:p.V1062A,ATP7B:uc010tgu.1:exon16:c.T3275C:p.V1092A, UNKNOWN Het;A>G 1305;57|60 Hom;A>G 2594;0|94 N N - 13 52523808 52523808 C T snp nonsynonymous SNV G2855A R952K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ATP7B Atp7b ENSG00000123191 ATPase copper transporting beta chr13:52506809-52585630 This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008] Hepatolenticular Degeneration; Wilson disease, fine motor symptoms in; personality | Wilson disease; null; Alcoholism; Hepatolenticular Degeneration|Movement Disorders; Chronic renal failure|Kidney Failure, Chronic; liver disease; Wilson disease; arylsulfatase A pseudodeficiency; Hepatolenticular Degeneration|Liver Failure, Acute; Wilson disease Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice. Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006825;copper ion transport;IDA|GO:0006878;cellular copper ion homeostasis;TAS|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007595;lactation;IEA|GO:0015677;copper ion import;IDA|GO:0015680;intracellular copper ion transport;IEA|GO:0030001;metal ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035434;copper ion transmembrane transport;IEA|GO:0046688;response to copper ion;IDA|GO:0051208;sequestering of calcium ion;IDA|GO:0060003;copper ion export;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0032588;trans-Golgi network membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004008;copper-exporting ATPase activity;NAS|GO:0005375;copper ion transmembrane transporter activity;IDA|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;IEA|GO:0043682;copper-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP7B https://www.uniprot.org/uniprot/P35670 https://hpo.jax.org/app/browse/search?q=ATP7B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606882 http://www.informatics.jax.org/searchtool/Search.do?query=ATP7B&submit=Quick%0D%5500ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP7B rs732774 0.53095 0.5717 0.5627 0.31 4 13 exonic exonic exonic ATP7B ATP7B ENSG00000123191 nonsynonymous SNV nonsynonymous SNV unknown ATP7B:NM_000053:exon12:c.G2855A:p.R952K,ATP7B:NM_001243182:exon13:c.G2522A:p.R841K, ATP7B:uc001vfv.2:exon5:c.G671A:p.R224K,ATP7B:uc010tgt.1:exon12:c.G2855A:p.R952K,ATP7B:uc001vfw.2:exon12:c.G2855A:p.R952K,ATP7B:uc001vfy.2:exon13:c.G2522A:p.R841K,ATP7B:uc010adv.2:exon4:c.G1565A:p.R522K,ATP7B:uc010tgs.1:exon6:c.G671A:p.R224K,ATP7B:uc010tgv.1:exon11:c.G2621A:p.R874K,ATP7B:uc010tgu.1:exon12:c.G2711A:p.R904K, UNKNOWN Het;C>T 730;38|35 Hom;C>T 1766;0|67 N N - 13 52524488 52524488 T C snp nonsynonymous SNV A2495G K832R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ATP7B Atp7b ENSG00000123191 ATPase copper transporting beta chr13:52506809-52585630 This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008] Hepatolenticular Degeneration; Wilson disease, fine motor symptoms in; personality | Wilson disease; null; Alcoholism; Hepatolenticular Degeneration|Movement Disorders; Chronic renal failure|Kidney Failure, Chronic; liver disease; Wilson disease; arylsulfatase A pseudodeficiency; Hepatolenticular Degeneration|Liver Failure, Acute; Wilson disease Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice. Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006825;copper ion transport;IDA|GO:0006878;cellular copper ion homeostasis;TAS|GO:0006882;cellular zinc ion homeostasis;IEA|GO:0007595;lactation;IEA|GO:0015677;copper ion import;IDA|GO:0015680;intracellular copper ion transport;IEA|GO:0030001;metal ion transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0035434;copper ion transmembrane transport;IEA|GO:0046688;response to copper ion;IDA|GO:0051208;sequestering of calcium ion;IDA|GO:0060003;copper ion export;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0031410;cytoplasmic vesicle;IDA|GO:0032588;trans-Golgi network membrane;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004008;copper-exporting ATPase activity;NAS|GO:0005375;copper ion transmembrane transporter activity;IDA|GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019829;cation-transporting ATPase activity;IEA|GO:0043682;copper-transporting ATPase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP7B https://www.uniprot.org/uniprot/P35670 https://hpo.jax.org/app/browse/search?q=ATP7B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606882 http://www.informatics.jax.org/searchtool/Search.do?query=ATP7B&submit=Quick%0D%5500ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP7B rs1061472 0.502396 0.5522 0.5384 0.62 8 13 exonic exonic exonic ATP7B ATP7B ENSG00000123191 nonsynonymous SNV nonsynonymous SNV unknown ATP7B:NM_000053:exon10:c.A2495G:p.K832R,ATP7B:NM_001005918:exon7:c.A2009G:p.K670R,ATP7B:NM_001243182:exon11:c.A2162G:p.K721R, ATP7B:uc001vfv.2:exon3:c.A311G:p.K104R,ATP7B:uc010tgt.1:exon10:c.A2495G:p.K832R,ATP7B:uc001vfw.2:exon10:c.A2495G:p.K832R,ATP7B:uc001vfy.2:exon11:c.A2162G:p.K721R,ATP7B:uc001vfx.2:exon7:c.A2009G:p.K670R,ATP7B:uc010tgs.1:exon4:c.A311G:p.K104R,ATP7B:uc010tgv.1:exon9:c.A2261G:p.K754R,ATP7B:uc010tgu.1:exon10:c.A2351G:p.K784R, UNKNOWN Het;T>C 2131;136|105 Hom;T>C 5334;1|190 N N - 13 52603194 52603194 G T snp nonsynonymous SNV G254T G85V aliphatic,neutral aliphatic,hydrophobic,neutral UTP14C Utp14b ENSG00000253797 UTP14C, small subunit processome component chr13:52598827-52607736 UTP14c may be functionally equivalent to mouse Utp14b and required for normal male fertility in humans. The novel evolution of retroposed UTP14 genes supports the hypothesis that retrogenes play an important role in evolution via regulation of male reproductive fitness. Homozygous males are sterile with spermatogonial arrest and elevated intratesticular testosterone levels. Major pathway of rRNA processing in the nucleolus and cytosol GO:0006364;rRNA processing;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0030490;maturation of SSU-rRNA;IBA|GO:0042254;ribosome biogenesis;IEA|GO:0051321;meiotic cell cycle;IEA GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IDA|GO:0032040;small-subunit processome;IBA http://www.genecards.org/index.php?path=/Search/keyword/UTP14C https://www.ncbi.nlm.nih.gov/omim/?term=608969 http://www.informatics.jax.org/searchtool/Search.do?query=UTP14C&submit=Quick%0D%20038ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UTP14C rs3742289 0.58127 0.6329 0.6478 0.08 1 13 exonic exonic exonic UTP14C UTP14C ENSG00000253797 nonsynonymous SNV nonsynonymous SNV unknown UTP14C:NM_021645:exon2:c.G254T:p.G85V, UTP14C:uc001vgb.3:exon2:c.G254T:p.G85V,UTP14C:uc001vgc.4:exon3:c.G254T:p.G85V,UTP14C:uc021rjw.1:exon1:c.G254T:p.G85V, UNKNOWN Het;G>T 2141;103|100 Hom;G>T 4631;2|172 N N - 13 52718050 52718050 C CT indel splicing 876+1G>AG NEK3 Nek3 ENSG00000136098 NIMA related kinase 3 chr13:52706775-52733996 This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] Tobacco Use Disorder; Mental Competency GO:0000278;mitotic cell cycle;NAS|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0016310;phosphorylation;IEA|GO:0030010;establishment of cell polarity;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0051301;cell division;IEA|GO:0090043;regulation of tubulin deacetylation;IEA GO:0005634;nucleus;NAS|GO:0005737;cytoplasm;IEA|GO:0030424;axon;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEK3 https://www.uniprot.org/uniprot/P51956 https://www.ncbi.nlm.nih.gov/omim/?term=604044 http://www.informatics.jax.org/searchtool/Search.do?query=NEK3&submit=Quick%0D%7281ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEK3 rs3837575 0.488019 0.5282 0.5390 1 0 0 splicing splicing splicing NEK3(NM_002498:exon11:c.876+1G>AG,NM_152720:exon11:c.876+1G>AG,NM_001146099:exon11:c.876+1G>AG) NEK3(uc001vgh.3:exon10:c.939+1G>AG,uc001vgi.3:exon12:c.874+1G>AG,uc010tgy.2:exon11:c.876+1G>AG) ENSG00000136098(ENST00000258597:exon11:c.876+1G>AG,ENST00000378101:exon11:c.876+1G>AG,ENST00000339406:exon11:c.876+1G>AG,ENST00000548127:exon11:c.876+1G>AG,ENST00000452082:exon10:c.939+1G>AG,ENST00000400357:exon10:c.876+1G>AG,ENST00000547820:exon2:c.65+1G>AG) Na Na Na Na Na Na Het;+T 623;23|26 Hom;+T 1408;0|49 N N - 13 78178550 78178550 G A snp nonsynonymous SNV G1097A R366K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) SCEL Scel ENSG00000136155 sciellin chr13:78109809-78219398 The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008] Body Weights and Measures; Blood Flow Velocity Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function. GO:0008544;epidermis development;ISS|GO:0009790;embryo development;ISS|GO:0030216;keratinocyte differentiation;IDA GO:0001533;cornified envelope;TAS|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCEL https://www.uniprot.org/uniprot/O95171 https://www.ncbi.nlm.nih.gov/omim/?term=604112 http://www.informatics.jax.org/searchtool/Search.do?query=SCEL&submit=Quick%0D%7297ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCEL rs2274016 0.235224 0.0984 0.1459 0.62 8 13 exonic exonic exonic SCEL SCEL ENSG00000136155 nonsynonymous SNV nonsynonymous SNV unknown SCEL:NM_003843:exon18:c.G1097A:p.R366K,SCEL:NM_144777:exon19:c.G1157A:p.R386K, SCEL:uc001vki.3:exon19:c.G1157A:p.R386K,SCEL:uc001vkj.3:exon18:c.G1097A:p.R366K, UNKNOWN Het;G>A 1382;92|69 Hom;G>A 3315;1|123 N N - 13 96540204 96540204 T G snp nonsynonymous SNV A2980C M994L hydrophobic,neutral aliphatic,hydrophobic,neutral UGGT2 Uggt2 ENSG00000102595 UDP-glucose glycoprotein glucosyltransferase 2 chr13:96453834-96705736 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] hypertension; Tobacco Use Disorder; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage ER Quality Control Compartment (ERQC) GO:0006486;protein glycosylation;IEA|GO:0097359;UDP-glucosylation;IEA|GO:1904380;endoplasmic reticulum mannose trimming;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0044322;endoplasmic reticulum quality control compartment;IEA GO:0003980;UDP-glucose:glycoprotein glucosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/UGGT2 https://www.uniprot.org/uniprot/Q9NYU1 https://www.ncbi.nlm.nih.gov/omim/?term=605898 http://www.informatics.jax.org/searchtool/Search.do?query=UGGT2&submit=Quick%0D%2896ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGGT2 rs12876018 0.335264 0.3718 0.3716 0.23 3 13 exonic exonic exonic UGGT2 UGGT2 ENSG00000102595 nonsynonymous SNV nonsynonymous SNV unknown UGGT2:NM_020121:exon26:c.A2980C:p.M994L, UGGT2:uc001vmu.1:exon4:c.A241C:p.M81L,UGGT2:uc001vmt.3:exon26:c.A2980C:p.M994L, UNKNOWN Het;T>G 667;27|32 Hom;T>G 1870;2|72 N N - 13 98896776 98896776 C T snp nonsynonymous SNV C203T T68I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral FARP1 Farp1 ENSG00000152767 FERM, ARH/RhoGEF and pleckstrin domain protein 1 chr13:98794816-99102027 This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] Alzheimer Disease; Waist Circumference; Parkinson's disease ; Nonalcoholic Fatty Liver Disease; Body Fat Distribution; Tobacco Use Disorder; Brain structure ; Brain; Iron GO:0007275;multicellular organism development;IEA|GO:0007416;synapse assembly;IEA|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048813;dendrite morphogenesis;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IEA|GO:0030425;dendrite;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0008092;cytoskeletal protein binding;IEA|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA|GO:0048365;Rac GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FARP1 https://www.uniprot.org/uniprot/Q9Y4F1 https://www.ncbi.nlm.nih.gov/omim/?term=602654 http://www.informatics.jax.org/searchtool/Search.do?query=FARP1&submit=Quick%0D%9589ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FARP1 rs7318267 0.376997 0.3379 0.4052 0.17 2 12 exonic exonic exonic FARP1 FARP1 ENSG00000152767 nonsynonymous SNV nonsynonymous SNV unknown FARP1:NM_001001715:exon3:c.C203T:p.T68I, FARP1:uc001vni.3:exon3:c.C203T:p.T68I, UNKNOWN Het;C>T 557;34|27 Hom;C>T 1446;0|49 N N - 14 105196230 105196230 A C snp nonsynonymous SNV A1C M1L hydrophobic,neutral aliphatic,hydrophobic,neutral ADSSL1 Adssl1 ENSG00000185100 adenylosuccinate synthase like 1 chr14:105190523-105213662 This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Chronic renal failure|Kidney Failure, Chronic Purine ribonucleoside monophosphate biosynthesis GO:0002376;immune system process;NAS|GO:0006163;purine nucleotide metabolic process;IEA|GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006167;AMP biosynthetic process;IDA|GO:0006531;aspartate metabolic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0014850;response to muscle activity;IEA|GO:0035690;cellular response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0044208;'de novo' AMP biosynthetic process;IEA|GO:0046040;IMP metabolic process;IBA|GO:0071257;cellular response to electrical stimulus;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0004019;adenylosuccinate synthase activity;EXP|GO:0005525;GTP binding;IEA|GO:0016874;ligase activity;IEA|GO:0042301;phosphate ion binding;NAS|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADSSL1 https://hpo.jax.org/app/browse/search?q=ADSSL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612498 http://www.informatics.jax.org/searchtool/Search.do?query=ADSSL1&submit=Quick%0D%15342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADSSL1 rs80097179 0.376198 0.2694 0 0.10 1 10 exonic exonic exonic ADSSL1 ADSSL1 ENSG00000185100 nonsynonymous SNV nonsynonymous SNV unknown ADSSL1:NM_199165:exon1:c.A1C:p.M1L, ADSSL1:uc001ype.3:exon1:c.A1C:p.M1L, UNKNOWN Het;A>C 454;20|20 Hom;A>C 1167;0|26 N N - 14 105405599 105405599 G C snp nonsynonymous SNV C16189G P5397A hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs3742935 0.555112 0.5843 0.5452 0.58 7 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C16189G:p.P5397A, AHNAK2:uc021seo.1:exon3:c.C1183G:p.P395A,AHNAK2:uc021sen.1:exon1:c.C2380G:p.P794A,AHNAK2:uc001ypx.2:exon7:c.C15889G:p.P5297A,AHNAK2:uc010axc.1:exon7:c.C16189G:p.P5397A, UNKNOWN Het;G>C 1123;106|54 Hom;G>C 3245;2|115 N N - 14 105406238 105406238 A C snp nonsynonymous SNV T15550G Y5184D aromatic,polar,hydrophobic polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2819419 0.590855 0.6109 0.5535 0.08 1 13 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T15550G:p.Y5184D, AHNAK2:uc021seo.1:exon3:c.T544G:p.Y182D,AHNAK2:uc021sen.1:exon1:c.T1741G:p.Y581D,AHNAK2:uc001ypx.2:exon7:c.T15250G:p.Y5084D,AHNAK2:uc010axc.1:exon7:c.T15550G:p.Y5184D, UNKNOWN Het;A>C 1805;63|68 Hom;A>C 3431;2|113 N N - 14 105406372 105406372 C T snp nonsynonymous SNV G15416A G5139E aliphatic,neutral polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs61421370 0.293131 0.4265 0.4138 0.17 2 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G15416A:p.G5139E, AHNAK2:uc021seo.1:exon3:c.G410A:p.G137E,AHNAK2:uc021sen.1:exon1:c.G1607A:p.G536E,AHNAK2:uc001ypx.2:exon7:c.G15116A:p.G5039E,AHNAK2:uc010axc.1:exon7:c.G15416A:p.G5139E, UNKNOWN Het;C>T 1125;48|51 Hom;C>T 3246;0|116 N N - 14 105407798 105407798 T C snp nonsynonymous SNV A13990G T4664A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs4465542 0.555112 0.5832 0.5458 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A13990G:p.T4664A, AHNAK2:uc021sen.1:exon1:c.A181G:p.T61A,AHNAK2:uc001ypx.2:exon7:c.A13690G:p.T4564A,AHNAK2:uc010axc.1:exon7:c.A13990G:p.T4664A, UNKNOWN Het;T>C 1336;43|54 Hom;T>C 3330;0|118 N N - 14 105408182 105408182 T G snp nonsynonymous SNV A13606C M4536L hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs9672139 0.527556 0.5551 0.5146 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A13606C:p.M4536L, AHNAK2:uc001ypx.2:exon7:c.A13306C:p.M4436L,AHNAK2:uc010axc.1:exon7:c.A13606C:p.M4536L, UNKNOWN Het;T>G 400;9|18 Hom;T>G 1218;0|45 N N - 14 105408811 105408811 A G snp nonsynonymous SNV T12977C L4326P aliphatic,hydrophobic,neutral hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2819421 0.555112 0.5822 0.5436 0.08 1 13 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T12977C:p.L4326P, AHNAK2:uc001ypx.2:exon7:c.T12677C:p.L4226P,AHNAK2:uc010axc.1:exon7:c.T12977C:p.L4326P, UNKNOWN Het;A>G 399;9|16 Hom;A>G 814;0|29 N N - 14 105408827 105408827 A C snp nonsynonymous SNV T12961G L4321V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs11850949 0.530751 0.5617 0.5389 0.15 2 13 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T12961G:p.L4321V, AHNAK2:uc001ypx.2:exon7:c.T12661G:p.L4221V,AHNAK2:uc010axc.1:exon7:c.T12961G:p.L4321V, UNKNOWN Het;A>C 379;9|14 Hom;A>C 853;0|29 N N - 14 105408955 105408955 A G snp nonsynonymous SNV T12833C V4278A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2819422 0.580671 0.6048 0.5518 0.09 1 11 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T12833C:p.V4278A, AHNAK2:uc001ypx.2:exon7:c.T12533C:p.V4178A,AHNAK2:uc010axc.1:exon7:c.T12833C:p.V4278A, UNKNOWN Het;A>G 559;31|30 Hom;A>G 1816;0|67 N N - 14 105409907 105409907 T C snp nonsynonymous SNV A11881G M3961V hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs10141053 0.245807 0.3709 0.3986 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A11881G:p.M3961V, AHNAK2:uc001ypx.2:exon7:c.A11581G:p.M3861V,AHNAK2:uc010axc.1:exon7:c.A11881G:p.M3961V, UNKNOWN Het;T>C 424;29|21 Hom;T>C 1024;0|37 N N - 14 105410183 105410183 T C snp nonsynonymous SNV A11605G M3869V hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs10438246 0.555911 0.5881 0.5462 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A11605G:p.M3869V, AHNAK2:uc001ypx.2:exon7:c.A11305G:p.M3769V,AHNAK2:uc010axc.1:exon7:c.A11605G:p.M3869V, UNKNOWN Het;T>C 1011;56|51 Hom;T>C 2612;0|96 N N - 14 105410411 105410411 C T snp nonsynonymous SNV G11377A D3793N polar,hydrophilic,charged(-) polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs11160825 0.54972 0.5808 0.5304 0.38 5 13 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G11377A:p.D3793N, AHNAK2:uc001ypx.2:exon7:c.G11077A:p.D3693N,AHNAK2:uc010axc.1:exon7:c.G11377A:p.D3793N, UNKNOWN Het;C>T 319;16|16 Hom;C>T 852;0|32 N N - 14 105410827 105410827 C T snp nonsynonymous SNV G10961A G3654E aliphatic,neutral polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs28380382 0.552516 0.5851 0.5448 0.25 3 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G10961A:p.G3654E, AHNAK2:uc001ypx.2:exon7:c.G10661A:p.G3554E,AHNAK2:uc010axc.1:exon7:c.G10961A:p.G3654E, UNKNOWN Het;C>T 654;33|30 Hom;C>T 1738;2|64 N N - 14 105411700 105411700 A G snp nonsynonymous SNV T10088C V3363A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs4264326 0.563498 0.5963 0.5493 0.15 2 13 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T10088C:p.V3363A, AHNAK2:uc001ypx.2:exon7:c.T9788C:p.V3263A,AHNAK2:uc010axc.1:exon7:c.T10088C:p.V3363A, UNKNOWN Het;A>G 589;34|27 Hom;A>G 1637;2|61 N N - 14 105411781 105411781 G A snp nonsynonymous SNV C10007T P3336L hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs10438247 0.538538 0.5795 0.5416 0.58 7 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C10007T:p.P3336L, AHNAK2:uc001ypx.2:exon7:c.C9707T:p.P3236L,AHNAK2:uc010axc.1:exon7:c.C10007T:p.P3336L, UNKNOWN Het;G>A 335;19|16 Hom;G>A 756;0|26 N N - 14 105411971 105411971 T C snp nonsynonymous SNV A9817G S3273G polar,hydrophilic,neutral aliphatic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs28737397 0.261581 0.0449 0.0051 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A9817G:p.S3273G, AHNAK2:uc001ypx.2:exon7:c.A9517G:p.S3173G,AHNAK2:uc010axc.1:exon7:c.A9817G:p.S3273G, UNKNOWN Het;T>C 160;48|8 Hom;T>C 309;0|7 N N - 14 105412066 105412066 C T snp nonsynonymous SNV G9722A R3241H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs77154428 0 0 0.4880 0.17 2 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G9722A:p.R3241H, AHNAK2:uc001ypx.2:exon7:c.G9422A:p.R3141H,AHNAK2:uc010axc.1:exon7:c.G9722A:p.R3241H, UNKNOWN Het;C>T 79;15|6 Hom;C>T 171;0|7 N N - 14 105412541 105412541 C T snp nonsynonymous SNV G9247A V3083I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs12433837 0.51857 0.2635 0.4508 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G9247A:p.V3083I, AHNAK2:uc001ypx.2:exon7:c.G8947A:p.V2983I,AHNAK2:uc010axc.1:exon7:c.G9247A:p.V3083I, UNKNOWN Het;C>T 808;22|22 Hom;C>T 782;0|18 N N - 14 105412561 105412561 C T snp nonsynonymous SNV G9227A R3076H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs3000771 0 0 0.4952 0.17 2 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G9227A:p.R3076H, AHNAK2:uc001ypx.2:exon7:c.G8927A:p.R2976H,AHNAK2:uc010axc.1:exon7:c.G9227A:p.R3076H, UNKNOWN Het;C>T 498;18|15 Hom;C>T 490;0|12 N N - 14 105413204 105413204 G T snp nonsynonymous SNV C8584A R2862S polar,hydrophilic,charged(+) polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2582514 0.567093 0.5945 0.5477 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C8584A:p.R2862S, AHNAK2:uc001ypx.2:exon7:c.C8284A:p.R2762S,AHNAK2:uc010axc.1:exon7:c.C8584A:p.R2862S, UNKNOWN Het;G>T 1446;80|44 Hom;G>T 4888;0|111 N N - 14 105414238 105414238 C A snp nonsynonymous SNV G7550T G2517V aliphatic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs60754080 0.480232 0.5507 0.5029 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G7550T:p.G2517V, AHNAK2:uc001ypx.2:exon7:c.G7250T:p.G2417V,AHNAK2:uc010axc.1:exon7:c.G7550T:p.G2517V, UNKNOWN Het;C>A 259;43|10 Hom;C>A 825;1|20 N N - 14 105414629 105414629 G A snp nonsynonymous SNV C7159T P2387S hydrophobic,neutral polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs72702027 0.531949 0.5632 0.5415 0.58 7 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C7159T:p.P2387S, AHNAK2:uc001ypx.2:exon7:c.C6859T:p.P2287S,AHNAK2:uc010axc.1:exon7:c.C7159T:p.P2387S, UNKNOWN Het;G>A 265;24|13 Hom;G>A 829;0|31 N N - 14 105414790 105414790 A G snp nonsynonymous SNV T6998C L2333P aliphatic,hydrophobic,neutral hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2582513 0.563099 0.5847 0.5512 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T6998C:p.L2333P, AHNAK2:uc001ypx.2:exon7:c.T6698C:p.L2233P,AHNAK2:uc010axc.1:exon7:c.T6998C:p.L2333P, UNKNOWN Het;A>G 499;16|22 Hom;A>G 1064;1|35 N N - 14 105415745 105415745 C G snp nonsynonymous SNV G6043C A2015P aliphatic,hydrophobic,neutral hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs117379881 0.277157 0.4201 0.4482 0.33 4 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G6043C:p.A2015P, AHNAK2:uc001ypx.2:exon7:c.G5743C:p.A1915P,AHNAK2:uc010axc.1:exon7:c.G6043C:p.A2015P, UNKNOWN Het;C>G 613;38|18 Hom;C>G 2211;0|49 N N - 14 105415748 105415748 G A snp nonsynonymous SNV C6040T P2014S hydrophobic,neutral polar,hydrophilic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs118171013 0.300319 0.4410 0.4598 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C6040T:p.P2014S, AHNAK2:uc001ypx.2:exon7:c.C5740T:p.P1914S,AHNAK2:uc010axc.1:exon7:c.C6040T:p.P2014S, UNKNOWN Het;G>A 613;38|18 Hom;G>A 2260;0|51 N N - 14 105416959 105416959 A G snp nonsynonymous SNV T4829C V1610A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs2013462 0.56889 0.6093 0.5797 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.T4829C:p.V1610A, AHNAK2:uc001ypx.2:exon7:c.T4529C:p.V1510A,AHNAK2:uc010axc.1:exon7:c.T4829C:p.V1610A, UNKNOWN Het;A>G 186;9|9 Hom;A>G 750;0|26 N N - 14 105417103 105417103 G A snp nonsynonymous SNV C4685T P1562L hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs61996045 0.28155 0.4161 0.4499 0.50 6 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C4685T:p.P1562L, AHNAK2:uc001ypx.2:exon7:c.C4385T:p.P1462L,AHNAK2:uc010axc.1:exon7:c.C4685T:p.P1562L, UNKNOWN Het;G>A 773;27|21 Hom;G>A 2534;2|59 N N - 14 105418264 105418264 G A snp nonsynonymous SNV C3524T A1175V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs55650155 0.382987 0.4288 0.4796 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.C3524T:p.A1175V, AHNAK2:uc001ypx.2:exon7:c.C3224T:p.A1075V,AHNAK2:uc010axc.1:exon7:c.C3524T:p.A1175V, UNKNOWN Het;G>A 572;24|16 Hom;G>A 692;1|17 N N - 14 105418344 105418344 T G snp nonsynonymous SNV A3444C E1148D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs55791176 0.00179712 0.4899 0.5064 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.A3444C:p.E1148D, AHNAK2:uc001ypx.2:exon7:c.A3144C:p.E1048D,AHNAK2:uc010axc.1:exon7:c.A3444C:p.E1148D, UNKNOWN Het;T>G 736;49|34 Hom;T>G 1170;2|43 N N - 14 105418391 105418391 C T snp nonsynonymous SNV G3397A V1133I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AHNAK2 Ahnak2 ENSG00000185567 AHNAK nucleoprotein 2 chr14:105403581-105444694 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;NAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0030018;Z disc;ISS|GO:0030315;T-tubule;NAS|GO:0030659;cytoplasmic vesicle membrane;ISS|GO:0042383;sarcolemma;NAS|GO:0043034;costamere;ISS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AHNAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608570 http://www.informatics.jax.org/searchtool/Search.do?query=AHNAK2&submit=Quick%0D%15440ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHNAK2 rs11625007 0 0.4859 0.4752 0.08 1 12 exonic exonic exonic AHNAK2 AHNAK2 ENSG00000185567 nonsynonymous SNV nonsynonymous SNV unknown AHNAK2:NM_138420:exon7:c.G3397A:p.V1133I, AHNAK2:uc001ypx.2:exon7:c.G3097A:p.V1033I,AHNAK2:uc010axc.1:exon7:c.G3397A:p.V1133I, UNKNOWN Het;C>T 697;59|39 Hom;C>T 1097;2|47 N N - 14 20666175 20666175 C CA indel frameshift substitution 681_681delinsCA OR11G2 Olfr744 ENSG00000196832 olfactory receptor family 11 subfamily G member 2 chr14:20665495-20666605 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Cholesterol, HDL Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR11G2 http://www.informatics.jax.org/searchtool/Search.do?query=OR11G2&submit=Quick%0D%16475ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR11G2 rs398077614 0 0.6947 0.6774 1 0 0 exonic exonic exonic OR11G2 OR11G2 ENSG00000196832 frameshift substitution frameshift substitution unknown OR11G2:NM_001005503:exon1:c.681_681delinsCA, OR11G2:uc010tlb.2:exon1:c.681_681delinsCA, UNKNOWN Het;+A 1830;93|81 Hom;+A 4776;2|158 N N - 14 20837701 20837701 G C snp nonsynonymous SNV C7458G I2486M aliphatic,hydrophobic,neutral hydrophobic,neutral TEP1 Tep1 ENSG00000129566 telomerase associated protein 1 chr14:20833826-20881588 This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer Mice homozygous for a disruption in this gene show no obvious phenotype. No changes are seen in telomerase activity or telomere length. GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TEP1 https://www.uniprot.org/uniprot/Q99973 https://www.ncbi.nlm.nih.gov/omim/?term=601686 http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1 rs938886 0.339257 0.2849 0.2626 0.08 1 13 exonic exonic exonic TEP1 TEP1 ENSG00000129566 nonsynonymous SNV nonsynonymous SNV unknown TEP1:NM_007110:exon53:c.C7458G:p.I2486M, TEP1:uc010ahk.3:exon41:c.C5487G:p.I1829M,TEP1:uc010tlg.1:exon51:c.C7134G:p.I2378M,TEP1:uc001vxe.3:exon53:c.C7458G:p.I2486M, UNKNOWN Het;G>C 1015;62|45 Hom;G>C 2756;2|97 N N - 14 20841707 20841707 C T snp nonsynonymous SNV G6640A V2214I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TEP1 Tep1 ENSG00000129566 telomerase associated protein 1 chr14:20833826-20881588 This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; lung cancer; longevity; chronic obstructive pulmonary disease; breast cancer; bladder cancer; Type 2 Diabetes| edema | rosiglitazone; lung cancer Mice homozygous for a disruption in this gene show no obvious phenotype. No changes are seen in telomerase activity or telomere length. GO:0000722;telomere maintenance via recombination;IDA|GO:0006278;RNA-dependent DNA biosynthetic process;IEA|GO:0008380;RNA splicing;IBA GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005694;chromosome;IEA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IPI|GO:0003720;telomerase activity;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0019899;enzyme binding;IPI|GO:0070034;telomerase RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TEP1 https://www.uniprot.org/uniprot/Q99973 https://www.ncbi.nlm.nih.gov/omim/?term=601686 http://www.informatics.jax.org/searchtool/Search.do?query=TEP1&submit=Quick%0D%6268ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEP1 rs1713449 0.324081 0.2747 0.2579 0.23 3 13 exonic exonic exonic TEP1 TEP1 ENSG00000129566 nonsynonymous SNV nonsynonymous SNV unknown TEP1:NM_007110:exon46:c.G6640A:p.V2214I, TEP1:uc010ahk.3:exon34:c.G4669A:p.V1557I,TEP1:uc010tlg.1:exon44:c.G6316A:p.V2106I,TEP1:uc001vxe.3:exon46:c.G6640A:p.V2214I,TEP1:uc010tlh.1:exon17:c.G1654A:p.V552I, UNKNOWN Het;C>T 1046;58|52 Hom;C>T 2513;0|97 N N - 14 21770730 21770730 A G snp nonsynonymous SNV A574G K192E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) RPGRIP1 Rpgrip1 ENSG00000092200 retinitis pigmentosa GTPase regulator interacting protein 1 chr14:21756098-21819460 This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008] Retinal Diseases; recessive cone-rod dystrophy Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells. GO:0007601;visual perception;IEA|GO:0042462;eye photoreceptor cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0061351;neural precursor cell proliferation;IEA GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0097730;non-motile cilium;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RPGRIP1 https://www.uniprot.org/uniprot/Q96KN7 https://hpo.jax.org/app/browse/search?q=RPGRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605446 http://www.informatics.jax.org/searchtool/Search.do?query=RPGRIP1&submit=Quick%0D%2184ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPGRIP1 rs6571751 0.477236 0.4825 0.5480 0.15 2 13 exonic exonic exonic RPGRIP1 RPGRIP1 ENSG00000092200 nonsynonymous SNV nonsynonymous SNV unknown RPGRIP1:NM_020366:exon4:c.A574G:p.K192E, RPGRIP1:uc001wag.3:exon4:c.A574G:p.K192E, UNKNOWN Het;A>G 455;34|23 Hom;A>G 1253;0|48 N N - 14 23299286 23299286 T C snp nonsynonymous SNV T56C V19A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MRPL52 Mrpl52 ENSG00000172590 mitochondrial ribosomal protein L52 chr14:23299088-23304246 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Body Mass Index Mitochondrial translation termination GO:0006412;translation;ISS|GO:0032543;mitochondrial translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003735;structural constituent of ribosome;ISS http://www.genecards.org/index.php?path=/Search/keyword/MRPL52 https://www.ncbi.nlm.nih.gov/omim/?term=611856 http://www.informatics.jax.org/searchtool/Search.do?query=MRPL52&submit=Quick%0D%13196ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL52 rs4982685 0.867612 0.8357 0.8520 0.08 1 13 exonic exonic exonic MRPL52 MRPL52 ENSG00000172590 nonsynonymous SNV nonsynonymous SNV unknown MRPL52:NM_178336:exon2:c.T56C:p.V19A,MRPL52:NM_181307:exon2:c.T56C:p.V19A,MRPL52:NM_180982:exon2:c.T53C:p.V18A, MRPL52:uc001wgx.4:exon2:c.T53C:p.V18A,MRPL52:uc001whb.4:exon2:c.T56C:p.V19A,MRPL52:uc001wgw.4:exon2:c.T56C:p.V19A, UNKNOWN Het;T>C 965;30|34 Hom;T>C 1772;0|65 N N - 14 23306048 23306048 C T snp nonsynonymous SNV C22T P8S hydrophobic,neutral polar,hydrophilic,neutral MMP14 Mmp14 ENSG00000157227 matrix metallopeptidase 14 chr14:23305766-23318236 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008] Bronchopulmonary Dysplasia; Scleroderma, Systemic|Systemic Scleroderma; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; ovarian cancer; chronic obstructive pulmonary disease/COPD; Hepatitis C, Chronic|Liver Cirrhosis; esophageal adenocarcinoma; Glomerulosclerosis, Focal Segmental|Nephrosis, Lipoid; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell Nullizygous mutations may lead to postnatal or premature death, craniofacial anomalies, skeletal dysplasia, low body weight, reduced bone formation and chondrocyte proliferation, arthritis, and fibrosis as well as defects in angiogenesis and lung, tooth,kidney, and submaxillary gland development. Activation of Matrix Metalloproteinases GO:0001503;ossification;IEA|GO:0001525;angiogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001935;endothelial cell proliferation;IEA|GO:0001958;endochondral ossification;IEA|GO:0006508;proteolysis;TAS|GO:0006979;response to oxidative stress;IEA|GO:0008584;male gonad development;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009725;response to hormone;IEA|GO:0010831;positive regulation of myotube differentiation;IEA|GO:0010952;positive regulation of peptidase activity;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016477;cell migration;IEA|GO:0016485;protein processing;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030307;positive regulation of cell growth;IDA|GO:0030324;lung development;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0030574;collagen catabolic process;TAS|GO:0031638;zymogen activation;IEA|GO:0035987;endodermal cell differentiation;IEP|GO:0035988;chondrocyte proliferation;IEA|GO:0043615;astrocyte cell migration;IEA|GO:0043627;response to estrogen;IEA|GO:0045579;positive regulation of B cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA|GO:0048701;embryonic cranial skeleton morphogenesis;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048771;tissue remodeling;IEA|GO:0048870;cell motility;TAS|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0060348;bone development;IEA|GO:0097094;craniofacial suture morphogenesis;IEA|GO:1905523;positive regulation of macrophage migration;IEA|GO:1990834;response to odorant;IEA GO:0005615;extracellular space;IMP|GO:0005634;nucleus;IMP|GO:0005737;cytoplasm;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0042470;melanosome;IEA|GO:0044354;macropinosome;IDA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005178;integrin binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;TAS|GO:0016504;peptidase activator activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/MMP14 https://hpo.jax.org/app/browse/search?q=MMP14&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600754 http://www.informatics.jax.org/searchtool/Search.do?query=MMP14&submit=Quick%0D%10074ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP14 rs1042703 0.867612 0.8345 0.8573 0.08 1 13 exonic exonic exonic MMP14 MMP14 ENSG00000157227 nonsynonymous SNV nonsynonymous SNV unknown MMP14:NM_004995:exon1:c.C22T:p.P8S, MMP14:uc001whc.3:exon1:c.C22T:p.P8S, UNKNOWN Het;C>T 974;38|46 Hom;C>T 2126;0|79 N N - 14 23830042 23830042 T C snp nonsynonymous SNV A19G T7A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral EFS Efs ENSG00000100842 embryonal Fyn-associated substrate chr14:23825611-23834961 The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013] Mice homozygous for a disruption in this gene display an increased inflammatory response characterized by excessive T cell responses, enhanced cytokine secretion and antibody production, and intestinal, kidney, liver, and lung inflammation. GO:0007155;cell adhesion;IEA|GO:0035556;intracellular signal transduction;TAS GO:0005737;cytoplasm;TAS GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0019904;protein domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EFS https://www.uniprot.org/uniprot/O43281 https://www.ncbi.nlm.nih.gov/omim/?term=609906 http://www.informatics.jax.org/searchtool/Search.do?query=EFS&submit=Quick%0D%2606ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFS rs2231798 0.455671 0.4579 0.3372 0.23 3 13 exonic exonic exonic EFS EFS ENSG00000100842 nonsynonymous SNV nonsynonymous SNV unknown EFS:NM_005864:exon2:c.A19G:p.T7A, EFS:uc001wjo.4:exon2:c.A19G:p.T7A, UNKNOWN Het;T>C 1170;60|34 Hom;T>C 4669;1|108 N N - 14 24683266 24683267 CA C indel frameshift substitution 354_355G MDP1 Mdp1 ENSG00000213920 magnesium dependent phosphatase 1 chr14:24683143-24685276 GO:0006470;protein dephosphorylation;IEA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0070062;extracellular exosome;IDA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MDP1 http://www.informatics.jax.org/searchtool/Search.do?query=MDP1&submit=Quick%0D%18181ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MDP1 rs3215610 0.203674 0.1843 0.1118 1 0 0 exonic exonic exonic MDP1,NEDD8-MDP1 MDP1,NEDD8-MDP1 ENSG00000213920 frameshift substitution frameshift substitution unknown MDP1:NM_001199821:exon5:c.354_355G,NEDD8-MDP1:NM_001199823:exon7:c.545_546G,MDP1:NM_138476:exon6:c.494_495G, MDP1:uc001wnl.2:exon6:c.494_495G,NEDD8-MDP1:uc021rrm.1:exon7:c.545_546G,MDP1:uc001wnm.2:exon5:c.354_355G, UNKNOWN Het;-A 1009;49|38 Hom;-A 2101;0|60 N N - 14 25100282 25100282 A G snp nonsynonymous SNV T739C Y247H aromatic,polar,hydrophobic aromatic,polar,hydrophilic,charged(+) GZMB ENSG00000100453 granzyme B chr14:25100160-25103473 This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016] Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Arthritis, Juvenile Rheumatoid|Lymphohistiocytosis, Hemophagocytic; null; Fibrinogen; heart transplant; Urinalysis; Behcet Syndrome; Alzheimer Disease; longevity; Autoimmune Diseases|melanoma|Vitiligo; breast cancer ; drug-related genes ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Vitiligo; respiratory syncytial virus bronchiolitis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections Homozygotes for a null allele show impaired CTL and NK cell cytolysis, and enhanced clearance of allogeneic and syngeneic tumor cells. Homozygotes for another null allele have defective CTL cytolysis and show impaired clearance of allogeneic tumor cells only if the selection cassette is retained. Activation, myristolyation of BID and translocation to mitochondria GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0016485;protein processing;IBA|GO:0019835;cytolysis;IEA|GO:0042267;natural killer cell mediated cytotoxicity;IMP|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS GO:0001772;immunological synapse;TAS|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GZMB https://www.uniprot.org/uniprot/P10144 https://www.ncbi.nlm.nih.gov/omim/?term=123910 http://www.informatics.jax.org/searchtool/Search.do?query=GZMB&submit=Quick%0D%2530ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GZMB rs2236338 0.291933 0.2653 0.2460 0.15 2 13 exonic exonic exonic GZMB GZMB ENSG00000100453 nonsynonymous SNV nonsynonymous SNV unknown GZMB:NM_004131:exon5:c.T739C:p.Y247H, GZMB:uc010ama.2:exon5:c.T703C:p.Y235H,GZMB:uc001wps.2:exon5:c.T739C:p.Y247H, UNKNOWN Het;A>G 1256;76|58 Hom;A>G 3025;0|106 N N - 14 25101589 25101589 G C snp nonsynonymous SNV C280G P94A hydrophobic,neutral aliphatic,hydrophobic,neutral GZMB ENSG00000100453 granzyme B chr14:25100160-25103473 This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016] Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Arthritis, Juvenile Rheumatoid|Lymphohistiocytosis, Hemophagocytic; null; Fibrinogen; heart transplant; Urinalysis; Behcet Syndrome; Alzheimer Disease; longevity; Autoimmune Diseases|melanoma|Vitiligo; breast cancer ; drug-related genes ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Vitiligo; respiratory syncytial virus bronchiolitis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections Homozygotes for a null allele show impaired CTL and NK cell cytolysis, and enhanced clearance of allogeneic and syngeneic tumor cells. Homozygotes for another null allele have defective CTL cytolysis and show impaired clearance of allogeneic tumor cells only if the selection cassette is retained. Activation, myristolyation of BID and translocation to mitochondria GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0016485;protein processing;IBA|GO:0019835;cytolysis;IEA|GO:0042267;natural killer cell mediated cytotoxicity;IMP|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS GO:0001772;immunological synapse;TAS|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GZMB https://www.uniprot.org/uniprot/P10144 https://www.ncbi.nlm.nih.gov/omim/?term=123910 http://www.informatics.jax.org/searchtool/Search.do?query=GZMB&submit=Quick%0D%2530ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GZMB rs11539752 0.301917 0 0.2438 0.15 2 13 exonic exonic exonic GZMB GZMB ENSG00000100453 nonsynonymous SNV nonsynonymous SNV unknown GZMB:NM_004131:exon3:c.C280G:p.P94A, GZMB:uc010ama.2:exon3:c.C244G:p.P82A,GZMB:uc001wps.2:exon3:c.C280G:p.P94A, UNKNOWN Het;G>C 298;85|22 Hom;G>C 1638;0|56 N N - 14 29261307 29261307 A AC indel frameshift substitution 344_344delinsAC C14orf23 rs56363493 0 0 0.2214 1 0 0 ncRNA_exonic exonic exonic LINC01551 C14orf23 ENSG00000186960 Na frameshift substitution unknown Na C14orf23:uc001wqf.3:exon3:c.344_344delinsAC, UNKNOWN Het;+C 1019;39|43 Hom;+C 4302;1|102 N N - 14 31355096 31355096 C G snp nonsynonymous SNV C1055G T352S polar,hydrophilic,neutral polar,hydrophilic,neutral COCH Coch ENSG00000100473 cochlin chr14:31343720-31364271 The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008] DEAFNESS AUTOSOMAL DOMINANT 9 Homozygotes for a point mutation have vestibular and hearing dysfunctions that worsen with age. Homozyogtes for a null allele have no abnormal phenotype. GO:0007605;sensory perception of sound;TAS|GO:0008360;regulation of cell shape;IMP|GO:0042742;defense response to bacterium;IEA|GO:0045089;positive regulation of innate immune response;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COCH https://www.uniprot.org/uniprot/O43405 https://hpo.jax.org/app/browse/search?q=COCH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603196 http://www.informatics.jax.org/searchtool/Search.do?query=COCH&submit=Quick%0D%2533ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COCH rs1045644 0.411342 0.5120 0.5491 0.23 3 13 exonic exonic exonic COCH COCH ENSG00000100473 nonsynonymous SNV nonsynonymous SNV unknown COCH:NM_004086:exon11:c.C1055G:p.T352S,COCH:NM_001135058:exon10:c.C1055G:p.T352S, COCH:uc001wqt.1:exon6:c.C608G:p.T203S,COCH:uc001wqp.2:exon10:c.C1055G:p.T352S,COCH:uc001wqq.4:exon10:c.C1055G:p.T352S,COCH:uc001wqr.2:exon11:c.C1055G:p.T352S, UNKNOWN Het;C>G 1543;108|71 Hom;C>G 4210;3|143 N N - 14 50623657 50623657 G A snp nonsynonymous SNV C1181T T394I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral SOS2 Sos2 ENSG00000100485 SOS Ras/Rho guanine nucleotide exchange factor 2 chr14:50583847-50698276 This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016] coronary spastic angina; Socioeconomic Factors; Waist Circumference; Alzheimer's disease Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology. Activation of Rac GO:0007264;small GTPase mediated signal transduction;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA GO:0005829;cytosol;TAS GO:0003677;DNA binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SOS2 https://www.uniprot.org/uniprot/Q07890 https://hpo.jax.org/app/browse/search?q=SOS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601247 http://www.informatics.jax.org/searchtool/Search.do?query=SOS2&submit=Quick%0D%2537ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOS2 rs3736759 0.448882 0 0.7132 1 0 0 intronic exonic intronic SOS2 SOS2 ENSG00000100485 Na nonsynonymous SNV Na Na SOS2:uc001wxt.2:exon6:c.C1181T:p.T394I, Na Het;G>A 551;2|16 Hom;G>A 1330;0|37 N N - 14 50623679 50623679 G A snp nonsynonymous SNV C1159T H387Y aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophobic SOS2 Sos2 ENSG00000100485 SOS Ras/Rho guanine nucleotide exchange factor 2 chr14:50583847-50698276 This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016] coronary spastic angina; Socioeconomic Factors; Waist Circumference; Alzheimer's disease Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology. Activation of Rac GO:0007264;small GTPase mediated signal transduction;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA GO:0005829;cytosol;TAS GO:0003677;DNA binding;IEA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SOS2 https://www.uniprot.org/uniprot/Q07890 https://hpo.jax.org/app/browse/search?q=SOS2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601247 http://www.informatics.jax.org/searchtool/Search.do?query=SOS2&submit=Quick%0D%2537ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOS2 rs3736760 0.595248 0 0.6527 1 0 0 intronic exonic intronic SOS2 SOS2 ENSG00000100485 Na nonsynonymous SNV Na Na SOS2:uc001wxt.2:exon6:c.C1159T:p.H387Y, Na Het;G>A 616;2|20 Hom;G>A 1573;0|46 N N - 14 51368610 51368610 A G snp nonsynonymous SNV A844G I282V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ABHD12B Abhd12b ENSG00000131969 abhydrolase domain containing 12B chr14:51338878-51371688 Respiratory Function Tests; Body Mass Index; Heart Rate GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABHD12B https://www.uniprot.org/uniprot/Q7Z5M8 http://www.informatics.jax.org/searchtool/Search.do?query=ABHD12B&submit=Quick%0D%6610ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABHD12B rs28564871 0.283746 0.1777 0.2462 0.15 2 13 exonic exonic exonic ABHD12B ABHD12B ENSG00000131969 nonsynonymous SNV nonsynonymous SNV unknown ABHD12B:NM_001206673:exon10:c.A844G:p.I282V,ABHD12B:NM_181814:exon8:c.A613G:p.I205V, ABHD12B:uc001wyr.3:exon8:c.A613G:p.I205V,ABHD12B:uc001wys.3:exon10:c.A844G:p.I282V,ABHD12B:uc001wyq.3:exon9:c.A523G:p.I175V, UNKNOWN Het;A>G 360;24|19 Hom;A>G 960;1|40 N N - 14 51378590 51378591 CT C indel splicing PYGL Pygl ENSG00000100504 glycogen phosphorylase L chr14:51324609-51411454 This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011] Tobacco Use Disorder; diabetes, type 1; longevity Glycogen breakdown (glycogenolysis) GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;TAS|GO:0006015;5-phosphoribose 1-diphosphate biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0070266;necroptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0000166;nucleotide binding;IEA|GO:0002060;purine nucleobase binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004645;phosphorylase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005536;glucose binding;NAS|GO:0008144;drug binding;IDA|GO:0008184;glycogen phosphorylase activity;IEA|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019842;vitamin binding;IDA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032052;bile acid binding;IDA|GO:0042803;protein homodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/PYGL https://www.uniprot.org/uniprot/P06737 https://hpo.jax.org/app/browse/search?q=PYGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613741 http://www.informatics.jax.org/searchtool/Search.do?query=PYGL&submit=Quick%0D%2540ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PYGL rs11356035 0.551917 0.4435 0.4379 1 0 0 splicing splicing splicing PYGL PYGL ENSG00000100504 Na Na Na Na Na Na Het;-T 1274;54|46 Hom;-T 3414;0|99 N N - 14 57075920 57075920 G T snp nonsynonymous SNV G733T A245S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral TMEM260 Tmem260 ENSG00000070269 transmembrane protein 260 chr14:56955072-57117324 Mental Competency GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM260 https://www.uniprot.org/uniprot/Q9NX78 https://hpo.jax.org/app/browse/search?q=TMEM260&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617449 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM260&submit=Quick%0D%1349ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM260 rs17776256 0.108826 0.1284 0.1181 0.69 9 13 exonic exonic exonic TMEM260 TMEM260 ENSG00000070269 nonsynonymous SNV nonsynonymous SNV unknown TMEM260:NM_017799:exon6:c.G733T:p.A245S, TMEM260:uc010aot.1:exon6:c.G733T:p.A245S,TMEM260:uc001xck.3:exon6:c.G733T:p.A245S,TMEM260:uc001xcm.3:exon6:c.G733T:p.A245S, UNKNOWN Het;G>T 919;53|45 Hom;G>T 3002;2|113 N N - 14 58563694 58563694 G C snp nonsynonymous SNV C1837G Q613E polar,hydrophilic,neutral polar,hydrophilic,charged(-) C14orf37 3632451O06Rik ENSG00000139971 chromosome 14 open reading frame 37 chr14:58466453-58764857 smoking cessation; Attention Deficit Disorder with Hyperactivity; Tobacco Use Disorder GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/C14orf37 https://www.uniprot.org/uniprot/Q86TY3 http://www.informatics.jax.org/searchtool/Search.do?query=C14orf37&submit=Quick%0D%7960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C14orf37 rs2273442 0.488818 0.5445 0.4876 0.23 3 13 exonic exonic exonic C14orf37 C14orf37 ENSG00000139971 nonsynonymous SNV nonsynonymous SNV unknown C14orf37:NM_001001872:exon5:c.C1837G:p.Q613E, C14orf37:uc001xdd.3:exon4:c.C1837G:p.Q613E,C14orf37:uc001xdc.3:exon5:c.C1837G:p.Q613E,C14orf37:uc010tro.2:exon6:c.C1951G:p.Q651E, UNKNOWN Het;G>C 1120;34|47 Hom;G>C 2210;0|77 N N - 14 59939727 59939727 T C snp nonsynonymous SNV A1021G I341V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral L3HYPDH L3hypdh ENSG00000126790 trans-L-3-hydroxyproline dehydratase chr14:59927081-59951148 The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016] Tobacco Use Disorder GO:0008152;metabolic process;IDA GO:0016829;lyase activity;IEA|GO:0016836;hydro-lyase activity;IDA|GO:0050346;trans-L-3-hydroxyproline dehydratase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/L3HYPDH https://www.uniprot.org/uniprot/Q96EM0 https://www.ncbi.nlm.nih.gov/omim/?term=614811 http://www.informatics.jax.org/searchtool/Search.do?query=L3HYPDH&submit=Quick%0D%5976ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=L3HYPDH rs8660 0.518371 0.5608 0.4687 0.08 1 13 exonic exonic exonic L3HYPDH L3HYPDH ENSG00000126790 nonsynonymous SNV nonsynonymous SNV unknown L3HYPDH:NM_144581:exon5:c.A1021G:p.I341V, L3HYPDH:uc001xee.1:exon5:c.A1021G:p.I341V, UNKNOWN Het;T>C 837;51|38 Hom;T>C 3044;0|104 N N - 14 59950417 59950417 T G snp nonsynonymous SNV A618C K206N polar,hydrophilic,charged(+) polar,hydrophilic,neutral L3HYPDH L3hypdh ENSG00000126790 trans-L-3-hydroxyproline dehydratase chr14:59927081-59951148 The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016] Tobacco Use Disorder GO:0008152;metabolic process;IDA GO:0016829;lyase activity;IEA|GO:0016836;hydro-lyase activity;IDA|GO:0050346;trans-L-3-hydroxyproline dehydratase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/L3HYPDH https://www.uniprot.org/uniprot/Q96EM0 https://www.ncbi.nlm.nih.gov/omim/?term=614811 http://www.informatics.jax.org/searchtool/Search.do?query=L3HYPDH&submit=Quick%0D%5976ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=L3HYPDH rs1268584 0.490415 0 0.5794 1 0 0 intronic exonic ncRNA_intronic L3HYPDH L3HYPDH ENSG00000258782 Na nonsynonymous SNV Na Na L3HYPDH:uc010trx.1:exon1:c.A618C:p.K206N, Na Het;T>G 436;33|22 Hom;T>G 1239;0|44 N N - 14 59988324 59988324 C T snp nonsynonymous SNV G2066A S689N polar,hydrophilic,neutral polar,hydrophilic,neutral CCDC175 Ccdc175 ENSG00000151838 coiled-coil domain containing 175 chr14:59971257-60043549 Alzheimer Disease; Erythrocyte Count http://www.genecards.org/index.php?path=/Search/keyword/CCDC175 https://www.uniprot.org/uniprot/P0C221 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC175&submit=Quick%0D%9478ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC175 rs12887189 0.277556 0.2464 0.2960 0.09 1 11 exonic exonic exonic CCDC175 CCDC175 ENSG00000151838 nonsynonymous SNV nonsynonymous SNV unknown CCDC175:NM_001164399:exon17:c.G2066A:p.S689N, CCDC175:uc021rtw.1:exon17:c.G2066A:p.S689N, UNKNOWN Het;C>T 704;70|41 Hom;C>T 2966;2|119 N N - 14 61449328 61449328 T A snp nonsynonymous SNV T208A L70M aliphatic,hydrophobic,neutral hydrophobic,neutral SLC38A6 Slc38a6 ENSG00000139974 solute carrier family 38 member 6 chr14:61447832-61550451 Respiratory Function Tests; Body Height; Body Mass Index; Coronary Artery Disease GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006865;amino acid transport;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015171;amino acid transmembrane transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC38A6 https://www.uniprot.org/uniprot/Q8IZM9 https://www.ncbi.nlm.nih.gov/omim/?term=616518 http://www.informatics.jax.org/searchtool/Search.do?query=SLC38A6&submit=Quick%0D%7962ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC38A6 rs976272 0.84365 0.9462 0.9185 0.15 2 13 exonic exonic exonic SLC38A6 SLC38A6 ENSG00000139974 nonsynonymous SNV nonsynonymous SNV unknown SLC38A6:NM_153811:exon2:c.T208A:p.L70M,SLC38A6:NM_001172702:exon2:c.T208A:p.L70M, SLC38A6:uc001xfh.2:exon2:c.T208A:p.L70M,SLC38A6:uc010trz.2:exon2:c.T139A:p.L47M,SLC38A6:uc001xfg.2:exon2:c.T208A:p.L70M, UNKNOWN Het;T>A 1262;79|65 Hom;T>A 3315;0|128 N N - 14 68053802 68053802 T C snp nonsynonymous SNV T40C Y14H aromatic,polar,hydrophobic aromatic,polar,hydrophilic,charged(+) PLEKHH1 Plekhh1 ENSG00000054690 pleckstrin homology, MyTH4 and FERM domain containing H1 chr14:68000018-68056329 GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHH1 https://www.uniprot.org/uniprot/Q9ULM0 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHH1&submit=Quick%0D%980ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHH1 rs734028 0.555312 0.5518 0.6740 1 0 0 exonic exonic exonic PLEKHH1 PLEKHH1 ENSG00000054690 synonymous SNV nonsynonymous SNV unknown PLEKHH1:NM_020715:exon29:c.T3945C:p.A1315A, PLEKHH1:uc031qpe.1:exon2:c.T40C:p.Y14H,PLEKHH1:uc010tsx.1:exon12:c.T769C:p.Y257H, UNKNOWN Het;T>C 1856;84|90 Hom;T>C 3813;2|140 N N - 14 74058832 74058832 C T snp nonsynonymous SNV C169T R57C polar,hydrophilic,charged(+) polar,hydrophobic,neutral ACOT4 Acot4 ENSG00000177465 acyl-CoA thioesterase 4 chr14:74058410-74063200 Beta-oxidation of very long chain fatty acids GO:0000038;very long-chain fatty acid metabolic process;IDA|GO:0001676;long-chain fatty acid metabolic process;IDA|GO:0006104;succinyl-CoA metabolic process;IDA|GO:0006637;acyl-CoA metabolic process;TAS|GO:0032788;saturated monocarboxylic acid metabolic process;IDA|GO:0032789;unsaturated monocarboxylic acid metabolic process;IDA|GO:0043648;dicarboxylic acid metabolic process;IDA|GO:0043649;dicarboxylic acid catabolic process;IDA|GO:0046459;short-chain fatty acid metabolic process;IDA GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS GO:0004778;succinyl-CoA hydrolase activity;IDA|GO:0005102;receptor binding;IPI|GO:0016290;palmitoyl-CoA hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016790;thiolester hydrolase activity;IEA|GO:0047617;acyl-CoA hydrolase activity;TAS|GO:0052689;carboxylic ester hydrolase activity;IEA|GO:0102991;myristoyl-CoA hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACOT4 https://www.ncbi.nlm.nih.gov/omim/?term=614314 http://www.informatics.jax.org/searchtool/Search.do?query=ACOT4&submit=Quick%0D%14029ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOT4 rs3742819 0.396965 0.2510 0.5631 0.31 4 13 exonic exonic exonic ACOT4 ACOT4 ENSG00000177465 nonsynonymous SNV nonsynonymous SNV unknown ACOT4:NM_152331:exon1:c.C169T:p.R57C, ACOT4:uc001xoo.3:exon1:c.C169T:p.R57C, UNKNOWN Het;C>T 269;5|11 Hom;C>T 550;0|18 N N - 14 74203789 74203789 G A snp nonsynonymous SNV C1661T P554L hydrophobic,neutral aliphatic,hydrophobic,neutral ELMSAN1 Elmsan1 ENSG00000156030 ELM2 and Myb/SANT domain containing 1 chr14:74181825-74256988 Menopause GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA GO:0000118;histone deacetylase complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0008134;transcription factor binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ELMSAN1 https://www.uniprot.org/uniprot/Q6PJG2 http://www.informatics.jax.org/searchtool/Search.do?query=ELMSAN1&submit=Quick%0D%9932ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMSAN1 rs17782124 0.152955 0.1500 0.1795 0.15 2 13 exonic exonic exonic ELMSAN1 ELMSAN1 ENSG00000156030 nonsynonymous SNV nonsynonymous SNV unknown ELMSAN1:NM_194278:exon3:c.C1661T:p.P554L,ELMSAN1:NM_001043318:exon3:c.C1661T:p.P554L, ELMSAN1:uc001xot.3:exon3:c.C1661T:p.P554L,ELMSAN1:uc010tud.1:exon2:c.C1661T:p.P554L,ELMSAN1:uc001xou.3:exon3:c.C1661T:p.P554L, UNKNOWN Het;G>A 1825;104|91 Hom;G>A 4927;4|183 N N - 14 77493761 77493767 TTGCTGC T indel nonframeshift substitution 369_375A IRF2BPL Irf2bpl ENSG00000119669 interferon regulatory factor 2 binding protein like chr14:77490888-77495034 This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012] Blood Pressure Determination; Neuroblastoma; Anticonvulsants GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046543;development of secondary female sexual characteristics;ISS GO:0005615;extracellular space;IDA|GO:0005634;nucleus;ISS|GO:0005654;nucleoplasm;IDA GO:0003674;molecular_function;ND|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IRF2BPL https://www.uniprot.org/uniprot/Q9H1B7 https://hpo.jax.org/app/browse/search?q=IRF2BPL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611720 http://www.informatics.jax.org/searchtool/Search.do?query=IRF2BPL&submit=Quick%0D%5092ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF2BPL rs200317113 0.930112 0 0.4035 1 0 0 exonic exonic exonic IRF2BPL IRF2BPL ENSG00000119669 nonframeshift substitution nonframeshift substitution unknown IRF2BPL:NM_024496:exon1:c.369_375A, IRF2BPL:uc001xsy.4:exon1:c.369_375A, UNKNOWN Het;-TGCTGC 246;18|8 Hom;-TGCTGC 1660;0|39 N N - 14 77951124 77951124 C T snp nonsynonymous SNV G280A A94T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ISM2 Ism2 ENSG00000100593 isthmin 2 chr14:77940740-77965210 The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Mar 2009] GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/ISM2 https://www.uniprot.org/uniprot/Q6H9L7 https://www.ncbi.nlm.nih.gov/omim/?term=612684 http://www.informatics.jax.org/searchtool/Search.do?query=ISM2&submit=Quick%0D%2562ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ISM2 rs3742728 0.589657 0.5215 0.6567 0.17 2 12 exonic exonic exonic ISM2 ISM2 ENSG00000100593 nonsynonymous SNV nonsynonymous SNV unknown ISM2:NM_199296:exon2:c.G280A:p.A94T,ISM2:NM_182509:exon2:c.G280A:p.A94T, ISM2:uc001xua.3:exon2:c.G280A:p.A94T,ISM2:uc001xtz.3:exon2:c.G280A:p.A94T,ISM2:uc001xty.3:exon3:c.G16A:p.A6T, UNKNOWN Het;C>T 1379;35|62 Hom;C>T 2382;0|90 N N - 14 88852166 88852166 G A snp nonsynonymous SNV G4A D2N polar,hydrophilic,charged(-) polar,hydrophilic,neutral SPATA7 Spata7 ENSG00000042317 spermatogenesis associated 7 chr14:88851268-88936694 This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Severe early-childhood-onset retinal dystrophy Mice homozygous for a null allele display progressive retinal rod cell degeneration, a thin retinal outer nuclear layer and impaired scotopic responses. GO:0007601;visual perception;IEA|GO:0045494;photoreceptor cell maintenance;ISS|GO:0050896;response to stimulus;IEA|GO:1903546;protein localization to photoreceptor outer segment;ISS|GO:1903621;protein localization to photoreceptor connecting cilium;ISS|GO:0007601;visual perception;IEA|GO:0045494;photoreceptor cell maintenance;ISS|GO:0050896;response to stimulus;IEA|GO:1903546;protein localization to photoreceptor outer segment;ISS|GO:1903621;protein localization to photoreceptor connecting cilium;ISS GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005930;axoneme;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0032391;photoreceptor connecting cilium;ISS|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPATA7 https://www.uniprot.org/uniprot/Q9P0W8 https://hpo.jax.org/app/browse/search?q=SPATA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609868 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA7&submit=Quick%0D%71ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA7 rs4904448 0.189896 0.2947 0.3737 0.23 3 13 exonic exonic exonic SPATA7 SPATA7 ENSG00000042317 nonsynonymous SNV nonsynonymous SNV unknown SPATA7:NM_001040428:exon1:c.G4A:p.D2N,SPATA7:NM_018418:exon1:c.G4A:p.D2N, SPATA7:uc001xwr.3:exon1:c.G4A:p.D2N,SPATA7:uc001xwq.3:exon1:c.G4A:p.D2N, UNKNOWN Het;G>A 196;23|12 Hom;G>A 1170;0|44 N N - 14 90528797 90528797 G A snp nonsynonymous SNV G248A R83Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral KCNK13 Kcnk13 ENSG00000152315 potassium two pore domain channel subfamily K member 13 chr14:90528109-90652201 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013] Tobacco Use Disorder; Triglycerides Homozygous knockout reduces the surveillance activity of microglial cells in the brain. Phase 4 - resting membrane potential GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005267;potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNK13 https://www.uniprot.org/uniprot/Q9HB14 https://www.ncbi.nlm.nih.gov/omim/?term=607367 http://www.informatics.jax.org/searchtool/Search.do?query=KCNK13&submit=Quick%0D%9534ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK13 rs7157583 0.101438 0.0819 0.0878 0.08 1 12 exonic exonic exonic KCNK13 KCNK13 ENSG00000152315 nonsynonymous SNV nonsynonymous SNV unknown KCNK13:NM_022054:exon1:c.G248A:p.R83Q, KCNK13:uc001xye.1:exon1:c.G248A:p.R83Q, UNKNOWN Het;G>A 449;12|22 Hom;G>A 860;1|36 N N - 14 93154537 93154540 TGGC T indel nonframeshift substitution 2673_2676T RIN3 Rin3 ENSG00000100599 Ras and Rab interactor 3 chr14:92980118-93155339 Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Hemoglobins; smoking cessation; Tobacco Use Disorder; Paget's disease RAB GEFs exchange GTP for GDP on RABs GO:0006897;endocytosis;NAS|GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0017137;Rab GTPase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RIN3 https://www.uniprot.org/uniprot/Q8TB24 https://www.ncbi.nlm.nih.gov/omim/?term=610223 http://www.informatics.jax.org/searchtool/Search.do?query=RIN3&submit=Quick%0D%2564ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIN3 rs570458246 0 0.7078 0.6674 1 0 0 exonic exonic exonic RIN3 RIN3 ENSG00000100599 nonframeshift substitution nonframeshift substitution unknown RIN3:NM_024832:exon10:c.2898_2901T, RIN3:uc001yaq.3:exon9:c.2673_2676T,RIN3:uc010auk.3:exon9:c.1884_1887T,RIN3:uc001yap.3:exon10:c.2898_2901T, UNKNOWN Het;-GGC 1555;29|40 Hom;-GGC 1522;0|36 N N - 14 94582130 94582130 T TGGCCATGGC indel nonframeshift substitution 125_125delinsTGGCCATGGC IFI27 Ifi27 ENSG00000275214 interferon alpha inducible protein 27 chr14:94571182-94583033 bladder cancer; Respiratory Syncytial Virus Infections; hepatocellular carcinoma; hepatitis C Mice homozygous for a knock-out allele exhibit protection from induced restenosis. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/IFI27 https://www.ncbi.nlm.nih.gov/omim/?term=600009 http://www.informatics.jax.org/searchtool/Search.do?query=IFI27&submit=Quick%0D%21304ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFI27 rs3064076 0.657748 0.6522 0.6009 1 0 0 exonic;splicing exonic exonic IFI27;IFI27(NM_001130080:exon4:c.122-1T>TGGCCATGGC,NM_001288952:exon5:c.122-1T>TGGCCATGGC,NM_001288956:exon4:c.122-1T>TGGCCATGGC) IFI27 ENSG00000165949 nonframeshift substitution nonframeshift substitution unknown IFI27:NM_001288954:exon5:c.125_125delinsTGGCCATGGC,IFI27:NM_001288995:exon4:c.125_125delinsTGGCCATGGC,IFI27:NM_001288958:exon4:c.125_125delinsTGGCCATGGC,IFI27:NM_001288957:exon4:c.125_125delinsTGGCCATGGC,IFI27:NM_005532:exon4:c.125_125delinsTGGCCATGGC, IFI27:uc021sba.1:exon4:c.125_125delinsTGGCCATGGC, UNKNOWN Het;+GGCCATGGC 2326;80|63 Hom;+GGCCATGGC 4533;0|102 N N - 14 94912896 94912896 T G snp nonsynonymous SNV A689C E230A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral SERPINA11 Serpina11 ENSG00000186910 serpin family A member 11 chr14:94908801-94919127 smoking cessation GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SERPINA11 http://www.informatics.jax.org/searchtool/Search.do?query=SERPINA11&submit=Quick%0D%15736ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINA11 rs1885137 0.260383 0.3162 0.3653 0.15 2 13 exonic exonic exonic SERPINA11 SERPINA11 ENSG00000186910 nonsynonymous SNV nonsynonymous SNV unknown SERPINA11:NM_001080451:exon3:c.A689C:p.E230A, SERPINA11:uc001ydd.1:exon3:c.A689C:p.E230A, UNKNOWN Het;T>G 1472;99|75 Hom;T>G 4439;0|161 N N - 14 96922752 96922752 C G snp nonsynonymous SNV C1167G N389K polar,hydrophilic,neutral polar,hydrophilic,charged(+) AK7 Ak7 ENSG00000140057 adenylate kinase 7 chr14:96858448-96955764 Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder Homozygous mice exhibit hydrocephalus, rhinitis, sperm defects and most die before 8 weeks of age. Interconversion of nucleotide di- and triphosphates GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006165;nucleoside diphosphate phosphorylation;IDA|GO:0009142;nucleoside triphosphate biosynthetic process;IDA|GO:0009165;nucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0016310;phosphorylation;IEA|GO:0030030;cell projection organization;IEA|GO:0046939;nucleotide phosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004017;adenylate kinase activity;IDA|GO:0004127;cytidylate kinase activity;IDA|GO:0004550;nucleoside diphosphate kinase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019205;nucleobase-containing compound kinase activity;IEA|GO:0019206;nucleoside kinase activity;EXP http://www.genecards.org/index.php?path=/Search/keyword/AK7 https://www.uniprot.org/uniprot/Q96M32 https://hpo.jax.org/app/browse/search?q=AK7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615364 http://www.informatics.jax.org/searchtool/Search.do?query=AK7&submit=Quick%0D%7975ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AK7 rs2369679 0.884585 0.8706 0.8384 0.08 1 13 exonic exonic exonic AK7 AK7 ENSG00000140057 nonsynonymous SNV nonsynonymous SNV unknown AK7:NM_152327:exon11:c.C1167G:p.N389K, AK7:uc001yfn.3:exon11:c.C1167G:p.N389K, UNKNOWN Het;C>G 745;50|39 Hom;C>G 2040;0|71 N N - 15 100340375 100340375 A G snp nonsynonymous SNV T245C V82A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DNM1P46 rs2924765 0.764976 0.7693 0.6974 1 0 0 ncRNA_exonic exonic ncRNA_exonic DNM1P46 DNM1P46 ENSG00000182397 Na nonsynonymous SNV Na Na DNM1P46:uc010bow.3:exon3:c.T245C:p.V82A, Na Het;A>G 481;5|21 Hom;A>G 989;0|34 N N - 15 102264304 102264304 G C snp nonsynonymous SNV C287G A96G aliphatic,hydrophobic,neutral aliphatic,neutral TARSL2 Tarsl2 ENSG00000185418 threonyl-tRNA synthetase like 2 chr15:102193801-102264807 Tobacco Use Disorder GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;IEA|GO:0006435;threonyl-tRNA aminoacylation;IBA|GO:0008150;biological_process;ND|GO:0043039;tRNA aminoacylation;IEA GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004829;threonine-tRNA ligase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016876;ligase activity, forming aminoacyl-tRNA and related compounds;IEA http://www.genecards.org/index.php?path=/Search/keyword/TARSL2 http://www.informatics.jax.org/searchtool/Search.do?query=TARSL2&submit=Quick%0D%15412ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TARSL2 rs1143138 0.458666 0.1842 0.5845 0.08 1 12 exonic exonic exonic TARSL2 TARSL2 ENSG00000185418 nonsynonymous SNV nonsynonymous SNV unknown TARSL2:NM_152334:exon1:c.C287G:p.A96G, TARSL2:uc002bxm.3:exon1:c.C287G:p.A96G, UNKNOWN Het;G>C 217;2|10 Hom;G>C 105;0|5 N N - 15 102292782 102292786 TCTCA T indel frameshift substitution 370_374T BC101079 rs61084368 0.280351 0 0.2701 1 0 0 intergenic exonic ncRNA_exonic TARSL2(dist=28137),OR4F6(dist=53137) BC101079 ENSG00000259660 Na frameshift substitution Na Na BC101079:uc010usj.2:exon4:c.370_374T, Na Het;-CTCA 186;6|6 Hom;-CTCA 509;0|13 N N - 15 25219512 25219512 T C snp UTR5;UTR3 -89T>C SNRPN Snrpn ENSG00000128739 small nuclear ribonucleoprotein polypeptide N chr15:25068794-25223870 The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq, Jul 2008] pulmonary function traits (other); Autism Homozygotes for targeted intragenic deletions are phenotypically normal. Deletions that also encompass neighboring genes on the paternal chromosome exhibit growth retardation, hypotonia, and high mortality. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0008380;RNA splicing;TAS|GO:0009725;response to hormone;IEA|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0008380;RNA splicing;TAS|GO:0009725;response to hormone;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;TAS|GO:0005682;U5 snRNP;IBA|GO:0005685;U1 snRNP;IEA|GO:0005686;U2 snRNP;IEA|GO:0005687;U4 snRNP;IBA|GO:0005737;cytoplasm;IBA|GO:0019013;viral nucleocapsid;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030532;small nuclear ribonucleoprotein complex;TAS|GO:0046540;U4/U6 x U5 tri-snRNP complex;IBA|GO:0071004;U2-type prespliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNRPN https://www.uniprot.org/uniprot/P63162 https://hpo.jax.org/app/browse/search?q=SNRPN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=182279 http://www.informatics.jax.org/searchtool/Search.do?query=SNRPN&submit=Quick%0D%136ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNRPN rs705 0.521765 0.5096 0 1 0 0 UTR5;UTR3 UTR5 UTR5;UTR3 SNRPN(NM_022807:c.-89T>C,NM_022806:c.-89T>C,NM_022808:c.-89T>C,NM_022805:c.-89T>C,NM_003097:c.-89T>C);SNURF(NM_005678:c.*100T>C) SNRPN(uc001ywp.1:c.-89T>C,uc001ywq.1:c.-89T>C,uc001ywr.1:c.-89T>C,uc001yws.1:c.-89T>C,uc001ywt.1:c.-89T>C,uc001ywy.1:c.-89T>C,uc021sga.1:c.-89T>C,uc021sgb.1:c.-581T>C) ENSG00000128739(ENST00000400098:c.-89T>C,ENST00000400100:c.-89T>C,ENST00000400097:c.-89T>C,ENST00000390687:c.-89T>C,ENST00000584968:c.-89T>C,ENST00000554227:c.-578T>C,ENST00000577565:c.-89T>C,ENST00000444203:c.-578T>C);ENSG00000273173(ENST00000338094:c.*100T>C) Na Na Na Na Na Na Het;T>C 373;39|19 Hom;T>C 1623;1|55 N N - 15 29416901 29416901 A G snp nonsynonymous SNV T1292C V431A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FAM189A1 Fam189a1 ENSG00000273564 family with sequence similarity 189 member A1 chr15:29412457-29862927 Arrhythmias, Cardiac; Tobacco Use Disorder; Arteries; Type 2 Diabetes| edema | rosiglitazone GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM189A1 http://www.informatics.jax.org/searchtool/Search.do?query=FAM189A1&submit=Quick%0D%20949ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM189A1 rs2279482 0.171326 0.1187 0.1412 0.08 1 13 exonic exonic exonic FAM189A1 FAM189A1 ENSG00000104059 nonsynonymous SNV nonsynonymous SNV unknown FAM189A1:NM_015307:exon10:c.T1292C:p.V431A, FAM189A1:uc010azk.1:exon10:c.T1292C:p.V431A,FAM189A1:uc001zcn.2:exon7:c.T704C:p.V235A, UNKNOWN Het;A>G 1056;69|55 Hom;A>G 2451;4|97 N N - 15 29421054 29421054 C T snp nonsynonymous SNV G941A G314D aliphatic,neutral polar,hydrophilic,charged(-) FAM189A1 Fam189a1 ENSG00000273564 family with sequence similarity 189 member A1 chr15:29412457-29862927 Arrhythmias, Cardiac; Tobacco Use Disorder; Arteries; Type 2 Diabetes| edema | rosiglitazone GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM189A1 http://www.informatics.jax.org/searchtool/Search.do?query=FAM189A1&submit=Quick%0D%20949ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM189A1 rs2306933 0.135184 0.0854 0.1138 0.08 1 13 exonic exonic exonic FAM189A1 FAM189A1 ENSG00000104059 nonsynonymous SNV nonsynonymous SNV unknown FAM189A1:NM_015307:exon8:c.G941A:p.G314D, FAM189A1:uc010azk.1:exon8:c.G941A:p.G314D,FAM189A1:uc001zcn.2:exon5:c.G353A:p.G118D, UNKNOWN Het;C>T 522;40|26 Hom;C>T 1505;0|39 N N - 15 30018627 30018627 T C snp nonsynonymous SNV A2380G I794V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TJP1 Tjp1 ENSG00000277401 tight junction protein 1 chr15:29991571-30261068 This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014] Mice homozygous for a null allele show embryonic lethality and growth retardation, failure of embryo turning and chorioallantoic fusion, defective yolk sac angiogenesis, and increased apoptosis in the notochord, neural tube, somite and allantois. Homozygotes for a reporter allele are overtly normal. RUNX1 regulates expression of components of tight junctions GO:0007043;cell-cell junction assembly;TAS|GO:0035329;hippo signaling;TAS|GO:0090557;establishment of endothelial intestinal barrier;IMP|GO:1901350;cell-cell signaling involved in cell-cell junction organization;NAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005913;cell-cell adherens junction;TAS|GO:0005921;gap junction;IEA|GO:0005923;bicellular tight junction;TAS|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030054;cell junction;IDA|GO:0043296;apical junction complex;IDA|GO:0045177;apical part of cell;IDA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TJP1 https://www.uniprot.org/uniprot/Q07157 https://www.ncbi.nlm.nih.gov/omim/?term=601009 http://www.informatics.jax.org/searchtool/Search.do?query=TJP1&submit=Quick%0D%21827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP1 rs2229515 0.141773 0.0976 0.1312 0.38 5 13 exonic exonic exonic TJP1 TJP1 ENSG00000104067 nonsynonymous SNV nonsynonymous SNV unknown TJP1:NM_001301026:exon19:c.A2380G:p.I794V,TJP1:NM_003257:exon18:c.A2368G:p.I790V,TJP1:NM_001301025:exon19:c.A2569G:p.I857V,TJP1:NM_175610:exon18:c.A2368G:p.I790V, TJP1:uc010azl.3:exon17:c.A2332G:p.I778V,TJP1:uc001zcq.3:exon19:c.A2380G:p.I794V,TJP1:uc001zcr.3:exon18:c.A2368G:p.I790V,TJP1:uc001zcs.3:exon18:c.A2368G:p.I790V, UNKNOWN Het;T>C 1100;50|53 Hom;T>C 1884;2|71 N N - 15 40328575 40328575 G C snp nonsynonymous SNV C370G P124A hydrophobic,neutral aliphatic,hydrophobic,neutral SRP14 Srp14 ENSG00000140319 signal recognition particle 14 chr15:40327940-40331389 Sarcoma, Ewing; Dehydroepiandrosterone Sulfate; Body Fat Distribution Neutrophil degranulation GO:0006613;cotranslational protein targeting to membrane;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0042493;response to drug;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0045047;protein targeting to ER;IMP GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;TAS|GO:0005786;signal recognition particle, endoplasmic reticulum targeting;TAS|GO:0005829;cytosol;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0034774;secretory granule lumen;TAS|GO:0048500;signal recognition particle;IEA|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003723;RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008312;7S RNA binding;TAS|GO:0030942;endoplasmic reticulum signal peptide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SRP14 https://www.uniprot.org/uniprot/P37108 https://www.ncbi.nlm.nih.gov/omim/?term=600708 http://www.informatics.jax.org/searchtool/Search.do?query=SRP14&submit=Quick%0D%8001ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRP14 rs7535 0.880591 0.9081 0.9044 0.09 1 11 exonic exonic exonic SRP14 SRP14 ENSG00000140319 nonsynonymous SNV nonsynonymous SNV unknown SRP14:NM_003134:exon5:c.C370G:p.P124A, SRP14:uc001zkq.2:exon5:c.C370G:p.P124A, UNKNOWN Het;G>C 717;17|35 Hom;G>C 992;0|38 N N - 15 41819716 41819716 C T snp nonsynonymous SNV G1516A E506K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) RPAP1 Rpap1 ENSG00000103932 RNA polymerase II associated protein 1 chr15:41809374-41836467 This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012] Tobacco Use Disorder GO:0006366;transcription from RNA polymerase II promoter;IBA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPAP1 https://www.uniprot.org/uniprot/Q9BWH6 https://www.ncbi.nlm.nih.gov/omim/?term=611475 http://www.informatics.jax.org/searchtool/Search.do?query=RPAP1&submit=Quick%0D%3063ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAP1 rs1200345 0.509984 0.5473 0.5073 0.62 8 13 exonic exonic exonic RPAP1 RPAP1 ENSG00000103932 nonsynonymous SNV nonsynonymous SNV unknown RPAP1:NM_015540:exon12:c.G1516A:p.E506K, RPAP1:uc001zod.3:exon12:c.G1516A:p.E506K, UNKNOWN Het;C>T 630;47|34 Hom;C>T 1793;0|70 N N - 15 42032383 42032383 C G snp nonsynonymous SNV C4567G P1523A hydrophobic,neutral aliphatic,hydrophobic,neutral MGA Mga ENSG00000174197 MGA, MAX dimerization protein chr15:41913422-42062141 Embryos homozygous for a gene trap allele die shortly after implantation due to defective development of the inner cell mass (ICM) and the epiblast. ICM derivatives fail to develop past E4.5 and show increased apoptosis but no change in cell proliferation. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0071339;MLL1 complex;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MGA https://www.ncbi.nlm.nih.gov/omim/?term=616061 http://www.informatics.jax.org/searchtool/Search.do?query=MGA&submit=Quick%0D%13487ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MGA rs17677991 0.301318 0.3078 0.3371 0.62 8 13 exonic exonic exonic MGA MGA ENSG00000174197 nonsynonymous SNV nonsynonymous SNV unknown MGA:NM_001164273:exon14:c.C4567G:p.P1523A,MGA:NM_001080541:exon14:c.C4567G:p.P1523A, MGA:uc010ucz.2:exon14:c.C4567G:p.P1523A,MGA:uc010ucy.2:exon14:c.C4567G:p.P1523A,MGA:uc010uda.1:exon3:c.C415G:p.P139A, UNKNOWN Het;C>G 842;97|49 Hom;C>G 3239;0|117 N N - 15 42111753 42111753 G GC indel frameshift substitution 37_37delinsGC MAPKBP1 Mapkbp1 ENSG00000137802 mitogen-activated protein kinase binding protein 1 chr15:42066632-42120053 Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1 https://www.uniprot.org/uniprot/O60336 https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616786 http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1 rs58865566 0.441094 0 0.3466 1 0 0 intronic exonic intronic MAPKBP1 MAPKBP1 ENSG00000137802 Na frameshift substitution Na Na MAPKBP1:uc010bck.3:exon18:c.37_37delinsGC, Na Het;+C 528;3|14 Hom;+C 1663;0|43 N N - 15 42115747 42115747 G C snp nonsynonymous SNV G3719C R1240P polar,hydrophilic,charged(+) hydrophobic,neutral MAPKBP1 Mapkbp1 ENSG00000137802 mitogen-activated protein kinase binding protein 1 chr15:42066632-42120053 Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic GO:0008380;RNA splicing;IBA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1900425;negative regulation of defense response to bacterium;IMP|GO:2000483;negative regulation of interleukin-8 secretion;IMP GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IEA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA|GO:0097431;mitotic spindle pole;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MAPKBP1 https://www.uniprot.org/uniprot/O60336 https://hpo.jax.org/app/browse/search?q=MAPKBP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616786 http://www.informatics.jax.org/searchtool/Search.do?query=MAPKBP1&submit=Quick%0D%7601ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPKBP1 rs3959569 0.234026 0.2519 0.3065 0.15 2 13 exonic exonic exonic MAPKBP1 MAPKBP1 ENSG00000137802 nonsynonymous SNV nonsynonymous SNV unknown MAPKBP1:NM_001128608:exon30:c.G3719C:p.R1240P,MAPKBP1:NM_014994:exon29:c.G3701C:p.R1234P, MAPKBP1:uc010bcj.3:exon28:c.G2222C:p.R741P,MAPKBP1:uc010bcl.3:exon21:c.G2222C:p.R741P,MAPKBP1:uc001zoj.4:exon29:c.G3701C:p.R1234P,MAPKBP1:uc010bck.3:exon25:c.G1352C:p.R451P,MAPKBP1:uc010udb.2:exon27:c.G3218C:p.R1073P,MAPKBP1:uc001zok.4:exon30:c.G3719C:p.R1240P, UNKNOWN Het;G>C 2321;103|104 Hom;G>C 6317;0|222 N N - 15 42129373 42129373 C G snp UTR5;UTR3 -7314C>G PLA2G4B Pla2g4b ENSG00000243708 phospholipase A2 group IVB chr15:42120283-42140345 This gene encodes a member of the cytosolic phospholipase A2 protein family. Phospholipase A2 enzymes hydrolyze the sn-2 bond of phospholipids, releasing lysophospholipids and fatty acids. This enzyme may be associated with mitochondria and early endosomes. Most tissues also express read-through transcripts from the upstream gene into this gene, some of which may encode fusion proteins combining the N-terminus of the upstream gene including its JmjC domain with the almost complete coding region of this gene, including the C2 and cytoplasmic phospholipase A2 domains. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; HIV XBP1(S) activates chaperone genes GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0006954;inflammatory response;NAS|GO:0007567;parturition;NAS|GO:0008152;metabolic process;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0019369;arachidonic acid metabolic process;NAS|GO:0019722;calcium-mediated signaling;NAS|GO:0036148;phosphatidylglycerol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0046475;glycerophospholipid catabolic process;IDA GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004620;phospholipase activity;IEA|GO:0004622;lysophospholipase activity;TAS|GO:0004623;phospholipase A2 activity;TAS|GO:0005509;calcium ion binding;NAS|GO:0005544;calcium-dependent phospholipid binding;NAS|GO:0008970;phosphatidylcholine 1-acylhydrolase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0047498;calcium-dependent phospholipase A2 activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLA2G4B https://www.ncbi.nlm.nih.gov/omim/?term=606088 http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G4B&submit=Quick%0D%19800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G4B rs11547012 0.479633 0.5048 0.5469 1 0 0 UTR3 UTR5;UTR3 UTR3 JMJD7(NM_001114632:c.*19C>G) PLA2G4B(uc001zoq.4:c.-7314C>G);JMJD7(uc001zon.2:c.*19C>G,uc001zop.1:c.*19C>G) ENSG00000168970(ENST00000487292:c.*19C>G),ENSG00000243789(ENST00000397299:c.*19C>G,ENST00000408047:c.*19C>G) Na Na Na Na Na Na Het;C>G 487;12|23 Hom;C>G 1391;0|49 N N - 15 42149472 42149472 T C snp nonsynonymous SNV A8585G Q2862R polar,hydrophilic,neutral polar,hydrophilic,charged(+) SPTBN5 Sptbn5 ENSG00000137877 spectrin beta, non-erythrocytic 5 chr15:42140345-42186275 Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder; hypertension COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IMP|GO:0007041;lysosomal transport;IMP|GO:0007411;axon guidance;TAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051693;actin filament capping;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008091;spectrin;NAS|GO:0016020;membrane;NAS|GO:0032391;photoreceptor connecting cilium;IDA|GO:0070062;extracellular exosome;IDA|GO:0097381;photoreceptor disc membrane;IDA GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0019894;kinesin binding;IDA|GO:0030507;spectrin binding;IDA|GO:0032029;myosin tail binding;IDA|GO:0034452;dynactin binding;IDA|GO:0043621;protein self-association;IDA|GO:0045505;dynein intermediate chain binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SPTBN5 https://www.uniprot.org/uniprot/Q9NRC6 https://www.ncbi.nlm.nih.gov/omim/?term=605916 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN5&submit=Quick%0D%7630ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN5 rs1456235 0.524361 0.4178 0.6029 0.08 1 13 exonic exonic exonic SPTBN5 SPTBN5 ENSG00000137877 nonsynonymous SNV nonsynonymous SNV unknown SPTBN5:NM_016642:exon51:c.A8585G:p.Q2862R, SPTBN5:uc001zos.4:exon51:c.A8585G:p.Q2862R, UNKNOWN Het;T>C 703;29|32 Hom;T>C 1201;0|41 N N - 15 42149506 42149506 G C snp nonsynonymous SNV C8551G Q2851E polar,hydrophilic,neutral polar,hydrophilic,charged(-) SPTBN5 Sptbn5 ENSG00000137877 spectrin beta, non-erythrocytic 5 chr15:42140345-42186275 Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder; hypertension COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IMP|GO:0007041;lysosomal transport;IMP|GO:0007411;axon guidance;TAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051693;actin filament capping;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008091;spectrin;NAS|GO:0016020;membrane;NAS|GO:0032391;photoreceptor connecting cilium;IDA|GO:0070062;extracellular exosome;IDA|GO:0097381;photoreceptor disc membrane;IDA GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0019894;kinesin binding;IDA|GO:0030507;spectrin binding;IDA|GO:0032029;myosin tail binding;IDA|GO:0034452;dynactin binding;IDA|GO:0043621;protein self-association;IDA|GO:0045505;dynein intermediate chain binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SPTBN5 https://www.uniprot.org/uniprot/Q9NRC6 https://www.ncbi.nlm.nih.gov/omim/?term=605916 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN5&submit=Quick%0D%7630ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN5 rs12442525 0.470847 0.3572 0.5276 0.31 4 13 exonic exonic exonic SPTBN5 SPTBN5 ENSG00000137877 nonsynonymous SNV nonsynonymous SNV unknown SPTBN5:NM_016642:exon51:c.C8551G:p.Q2851E, SPTBN5:uc001zos.4:exon51:c.C8551G:p.Q2851E, UNKNOWN Het;G>C 674;32|30 Hom;G>C 1861;0|60 N N - 15 42166500 42166500 C T snp nonsynonymous SNV G4679A R1560H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) SPTBN5 Sptbn5 ENSG00000137877 spectrin beta, non-erythrocytic 5 chr15:42140345-42186275 Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder; hypertension COPI-mediated anterograde transport GO:0000165;MAPK cascade;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007030;Golgi organization;IMP|GO:0007041;lysosomal transport;IMP|GO:0007411;axon guidance;TAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051260;protein homooligomerization;IDA|GO:0051693;actin filament capping;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0008091;spectrin;NAS|GO:0016020;membrane;NAS|GO:0032391;photoreceptor connecting cilium;IDA|GO:0070062;extracellular exosome;IDA|GO:0097381;photoreceptor disc membrane;IDA GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0019894;kinesin binding;IDA|GO:0030507;spectrin binding;IDA|GO:0032029;myosin tail binding;IDA|GO:0034452;dynactin binding;IDA|GO:0043621;protein self-association;IDA|GO:0045505;dynein intermediate chain binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SPTBN5 https://www.uniprot.org/uniprot/Q9NRC6 https://www.ncbi.nlm.nih.gov/omim/?term=605916 http://www.informatics.jax.org/searchtool/Search.do?query=SPTBN5&submit=Quick%0D%7630ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTBN5 rs12593397 0.395168 0.3297 0.4465 0.08 1 13 exonic exonic exonic SPTBN5 SPTBN5 ENSG00000137877 nonsynonymous SNV nonsynonymous SNV unknown SPTBN5:NM_016642:exon24:c.G4679A:p.R1560H, SPTBN5:uc001zos.4:exon24:c.G4679A:p.R1560H, UNKNOWN Het;C>T 343;24|17 Hom;C>T 738;0|29 N N - 15 42570718 42570718 A G snp nonsynonymous SNV A131G Q44R polar,hydrophilic,neutral polar,hydrophilic,charged(+) GANC Ganc ENSG00000214013 glucosidase alpha, neutral C chr15:42565431-42645864 Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014] longevity GO:0000023;maltose metabolic process;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0008152;metabolic process;IEA GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004558;alpha-1,4-glucosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0032450;maltose alpha-glucosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GANC https://www.ncbi.nlm.nih.gov/omim/?term=104180 http://www.informatics.jax.org/searchtool/Search.do?query=GANC&submit=Quick%0D%18200ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GANC rs8024732 0.644369 0.7175 0.7816 0.15 2 13 exonic exonic exonic GANC GANC ENSG00000214013 nonsynonymous SNV nonsynonymous SNV unknown GANC:NM_001301409:exon4:c.A131G:p.Q44R,GANC:NM_001301410:exon3:c.A131G:p.Q44R,GANC:NM_198141:exon3:c.A131G:p.Q44R, GANC:uc010ude.1:exon3:c.A131G:p.Q44R,GANC:uc001zph.3:exon4:c.A131G:p.Q44R,GANC:uc001zpi.3:exon3:c.A131G:p.Q44R, UNKNOWN Het;A>G 881;54|41 Hom;A>G 2030;0|75 N N - 15 43658935 43658935 C T snp nonsynonymous SNV G595A G199S aliphatic,neutral polar,hydrophilic,neutral ZSCAN29 Zscan29 ENSG00000140265 zinc finger and SCAN domain containing 29 chr15:43650370-43663223 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN29 https://www.uniprot.org/uniprot/Q8IWY8 http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN29&submit=Quick%0D%7991ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN29 rs3917221 0.134984 0.1898 0.1650 0.15 2 13 exonic exonic exonic ZSCAN29 ZSCAN29 ENSG00000140265 nonsynonymous SNV nonsynonymous SNV unknown ZSCAN29:NM_152455:exon3:c.G595A:p.G199S, ZSCAN29:uc001zrm.3:exon3:c.G592A:p.G198S,ZSCAN29:uc001zrj.1:exon2:c.G235A:p.G79S,ZSCAN29:uc010bdf.1:exon3:c.G592A:p.G198S,ZSCAN29:uc001zrk.1:exon3:c.G595A:p.G199S, UNKNOWN Het;C>T 1069;56|50 Hom;C>T 3070;0|110 N N - 15 43817404 43817404 G A snp nonsynonymous SNV G3733A D1245N polar,hydrophilic,charged(-) polar,hydrophilic,neutral MAP1A Map1a ENSG00000166963 microtubule associated protein 1A chr15:43803156-43823818 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008] Attention Deficit Disorder with Hyperactivity; schizophrenia Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration. GO:0000226;microtubule cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAP1A https://www.ncbi.nlm.nih.gov/omim/?term=600178 http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A rs12912505 0.103834 0.1513 0.1566 0.58 7 12 exonic exonic exonic MAP1A MAP1A ENSG00000166963 nonsynonymous SNV nonsynonymous SNV unknown MAP1A:NM_002373:exon4:c.G3733A:p.D1245N, MAP1A:uc001zrt.3:exon4:c.G3733A:p.D1245N, UNKNOWN Het;G>A 1757;70|81 Hom;G>A 5513;0|125 N N - 15 43818079 43818079 G A snp nonsynonymous SNV G4408A A1470T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral MAP1A Map1a ENSG00000166963 microtubule associated protein 1A chr15:43803156-43823818 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008] Attention Deficit Disorder with Hyperactivity; schizophrenia Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration. GO:0000226;microtubule cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005875;microtubule associated complex;TAS GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAP1A https://www.ncbi.nlm.nih.gov/omim/?term=600178 http://www.informatics.jax.org/searchtool/Search.do?query=MAP1A&submit=Quick%0D%11921ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1A rs62020612 0.13778 0.1892 0.1668 0.08 1 12 exonic exonic exonic MAP1A MAP1A ENSG00000166963 nonsynonymous SNV nonsynonymous SNV unknown MAP1A:NM_002373:exon4:c.G4408A:p.A1470T, MAP1A:uc001zrt.3:exon4:c.G4408A:p.A1470T, UNKNOWN Het;G>A 1539;80|72 Hom;G>A 3778;0|137 N N - 15 50279662 50279662 T C snp nonsynonymous SNV A674G N225S polar,hydrophilic,neutral polar,hydrophilic,neutral ATP8B4 Atp8b4 ENSG00000104043 ATPase phospholipid transporting 8B4 (putative) chr15:50150435-50475014 This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Triglycerides; Stroke; Cholesterol, HDL; Alzheimer's disease ; Tobacco Use Disorder; Coronary Disease Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007030;Golgi organization;IBA|GO:0015914;phospholipid transport;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045332;phospholipid translocation;IEA GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP8B4 https://www.uniprot.org/uniprot/Q8TF62 https://www.ncbi.nlm.nih.gov/omim/?term=609123 http://www.informatics.jax.org/searchtool/Search.do?query=ATP8B4&submit=Quick%0D%3069ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP8B4 rs16963151 0.292133 0.2717 0.2507 0.15 2 13 exonic exonic exonic ATP8B4 ATP8B4 ENSG00000104043 nonsynonymous SNV nonsynonymous SNV unknown ATP8B4:NM_024837:exon10:c.A674G:p.N225S, ATP8B4:uc010ufd.2:exon11:c.A293G:p.N98S,ATP8B4:uc001zxu.3:exon10:c.A674G:p.N225S,ATP8B4:uc010ber.3:exon11:c.A293G:p.N98S, UNKNOWN Het;T>C 829;54|42 Hom;T>C 2896;0|107 N N - 15 50474766 50474766 A C snp nonsynonymous SNV A142C K48Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral SLC27A2 Slc27a2 ENSG00000140284 solute carrier family 27 member 2 chr15:50474393-50528592 The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] Alzheimer's disease Homozygous mutant mice are viable and show no gross morphological abnormalities. Neutrophil degranulation GO:0000038;very long-chain fatty acid metabolic process;IEA|GO:0001561;fatty acid alpha-oxidation;TAS|GO:0001676;long-chain fatty acid metabolic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IDA|GO:0006699;bile acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0015908;fatty acid transport;IEA|GO:0042760;very long-chain fatty acid catabolic process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044539;long-chain fatty acid import;IDA|GO:0097089;methyl-branched fatty acid metabolic process;IDA GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;TAS|GO:0005779;integral component of peroxisomal membrane;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;TAS|GO:0005102;receptor binding;IPI|GO:0005524;ATP binding;IEA|GO:0015245;fatty acid transporter activity;IEA|GO:0016874;ligase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0031957;very long-chain fatty acid-CoA ligase activity;IDA|GO:0050197;phytanate-CoA ligase activity;TAS|GO:0070251;pristanate-CoA ligase activity;TAS|GO:0102391;decanoate--CoA ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC27A2 https://www.uniprot.org/uniprot/O14975 https://www.ncbi.nlm.nih.gov/omim/?term=603247 http://www.informatics.jax.org/searchtool/Search.do?query=SLC27A2&submit=Quick%0D%7995ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC27A2 rs1648348 0.613019 0.5840 0.6847 0.15 2 13 exonic exonic exonic SLC27A2 SLC27A2 ENSG00000140284 nonsynonymous SNV nonsynonymous SNV unknown SLC27A2:NM_001159629:exon1:c.A142C:p.K48Q,SLC27A2:NM_003645:exon1:c.A142C:p.K48Q, SLC27A2:uc010bes.3:exon1:c.A142C:p.K48Q,SLC27A2:uc001zxw.3:exon1:c.A142C:p.K48Q, UNKNOWN Het;A>C 1270;47|56 Hom;A>C 3269;2|119 N N - 15 59323048 59323048 C G snp nonsynonymous SNV C27G N9K polar,hydrophilic,neutral polar,hydrophilic,charged(+) RNF111 Rnf111 ENSG00000157450 ring finger protein 111 chr15:59157374-59389618 The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012] Echocardiography; Hip Mice homozygous for a gene trap allele fail to develop anterior structures and midline with failure to develop anterior endoderm, node and mesendoderm. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;IBA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0016567;protein ubiquitination;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IBA|GO:0030579;ubiquitin-dependent SMAD protein catabolic process;IBA|GO:0031398;positive regulation of protein ubiquitination;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0070911;global genome nucleotide-excision repair;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016605;PML body;IEA|GO:0043234;protein complex;IEA GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0032184;SUMO polymer binding;IDA|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RNF111 https://www.ncbi.nlm.nih.gov/omim/?term=605840 http://www.informatics.jax.org/searchtool/Search.do?query=RNF111&submit=Quick%0D%10095ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF111 rs2899642 0.231629 0.3308 0.3659 0.23 3 13 exonic exonic exonic RNF111 RNF111 ENSG00000157450 nonsynonymous SNV nonsynonymous SNV unknown RNF111:NM_017610:exon2:c.C27G:p.N9K,RNF111:NM_001270530:exon2:c.C27G:p.N9K,RNF111:NM_001270528:exon2:c.C27G:p.N9K,RNF111:NM_001270529:exon2:c.C27G:p.N9K, RNF111:uc002afw.4:exon1:c.C27G:p.N9K,RNF111:uc002afu.4:exon2:c.C27G:p.N9K,RNF111:uc002afv.4:exon2:c.C27G:p.N9K,RNF111:uc002aft.4:exon2:c.C27G:p.N9K,RNF111:uc002afs.4:exon2:c.C27G:p.N9K, UNKNOWN Het;C>G 529;48|26 Hom;C>G 2309;0|82 N N - 15 62202482 62202482 C T snp nonsynonymous SNV G8609A S2870N polar,hydrophilic,neutral polar,hydrophilic,neutral VPS13C Vps13c ENSG00000129003 vacuolar protein sorting 13 homolog C chr15:62144588-62352672 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] two-hour glucose challenge ; Schizophrenia; Glucose Tolerance Test GO:0006895;Golgi to endosome transport;TAS|GO:0007005;mitochondrion organization;IMP|GO:1905090;negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization;IMP GO:0005737;cytoplasm;TAS|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/VPS13C https://www.uniprot.org/uniprot/Q709C8 https://hpo.jax.org/app/browse/search?q=VPS13C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608879 http://www.informatics.jax.org/searchtool/Search.do?query=VPS13C&submit=Quick%0D%6204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS13C rs10851704 0.516374 0.5229 0.5472 0.15 2 13 exonic exonic exonic VPS13C VPS13C ENSG00000129003 nonsynonymous SNV nonsynonymous SNV unknown VPS13C:NM_017684:exon62:c.G8609A:p.S2870N,VPS13C:NM_001018088:exon64:c.G8738A:p.S2913N,VPS13C:NM_018080:exon62:c.G8609A:p.S2870N,VPS13C:NM_020821:exon64:c.G8738A:p.S2913N, VPS13C:uc002ahc.2:exon62:c.G8609A:p.S2870N,VPS13C:uc002agz.3:exon64:c.G8738A:p.S2913N,VPS13C:uc002ahb.2:exon64:c.G8738A:p.S2913N,VPS13C:uc002aha.3:exon62:c.G8609A:p.S2870N,VPS13C:uc002ahd.1:exon5:c.G869A:p.S290N, UNKNOWN Het;C>T 285;20|16 Hom;C>T 1251;0|44 N N - 15 63340989 63340989 C CG indel frameshift substitution 184_184delinsCG AX747619 rs148517607 0.226837 0 0.2806 1 0 0 intronic exonic ncRNA_exonic TPM1 AX747619 ENSG00000259498 Na frameshift substitution Na Na AX747619:uc002alq.1:exon1:c.184_184delinsCG, Na Het;+G 313;16|10 Hom;+G 1377;0|33 N N - 15 63433766 63433766 G A snp nonsynonymous SNV G1406A R469K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) LACTB Lactb ENSG00000103642 lactamase beta chr15:63413999-63434260 This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013] Acquired Immunodeficiency Syndrome|Disease Progression; Drug Hypersensitivity; Metabolism GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/LACTB https://www.uniprot.org/uniprot/P83111 https://www.ncbi.nlm.nih.gov/omim/?term=608440 http://www.informatics.jax.org/searchtool/Search.do?query=LACTB&submit=Quick%0D%3047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LACTB rs2729835 0.709864 0.6486 0.6840 0.15 2 13 exonic exonic exonic LACTB LACTB ENSG00000103642 nonsynonymous SNV nonsynonymous SNV unknown LACTB:NM_032857:exon6:c.G1406A:p.R469K, LACTB:uc002alw.3:exon6:c.G1406A:p.R469K, UNKNOWN Het;G>A 1128;65|52 Hom;G>A 2698;0|92 N N - 15 63889934 63889934 G C snp nonsynonymous SNV G343C V115L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FBXL22 Fbxl22 ENSG00000197361 F-box and leucine rich repeat protein 22 chr15:63889552-63894627 This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010] Tobacco Use Disorder Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0016567;protein ubiquitination;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0043687;post-translational protein modification;TAS GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IEA|GO:0030018;Z disc;IEA GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0061630;ubiquitin protein ligase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FBXL22 https://www.ncbi.nlm.nih.gov/omim/?term=609088 http://www.informatics.jax.org/searchtool/Search.do?query=FBXL22&submit=Quick%0D%16603ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL22 rs8035931 0.0591054 0.0967 0.0998 0.64 7 11 exonic exonic exonic FBXL22 FBXL22 ENSG00000197361 nonsynonymous SNV nonsynonymous SNV unknown FBXL22:NM_203373:exon1:c.G343C:p.V115L, FBXL22:uc002amm.2:exon1:c.G325C:p.V109L,FBXL22:uc002amn.4:exon1:c.G343C:p.V115L, UNKNOWN Het;G>C 483;39|25 Hom;G>C 1382;0|45 N N - 15 71276480 71276483 GCAA G indel nonframeshift substitution 969_972G LRRC49 Lrrc49 ENSG00000137821 leucine rich repeat containing 49 chr15:71145578-71342414 Respiratory Function Tests Carboxyterminal post-translational modifications of tubulin GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRRC49 https://www.uniprot.org/uniprot/Q8IUZ0 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC49&submit=Quick%0D%7612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC49 rs3834543 0.435903 0.4085 0.4686 1 0 0 exonic exonic exonic LRRC49 LRRC49 ENSG00000137821 nonframeshift substitution nonframeshift substitution unknown LRRC49:NM_001199018:exon12:c.921_924G,LRRC49:NM_001284357:exon12:c.1023_1026G,LRRC49:NM_017691:exon11:c.1053_1056G,LRRC49:NM_001199017:exon11:c.1068_1071G, LRRC49:uc002asz.3:exon12:c.969_972G,LRRC49:uc002asu.3:exon12:c.1023_1026G,LRRC49:uc002asw.3:exon11:c.1053_1056G,LRRC49:uc002asy.3:exon13:c.171_174G,LRRC49:uc010ukf.2:exon11:c.1068_1071G,LRRC49:uc002asx.3:exon12:c.921_924G, UNKNOWN Het;-CAA 2197;67|58 Hom;-CAA 3918;2|90 N N - 15 72191266 72191266 C T snp nonsynonymous SNV G3578A G1193E aliphatic,neutral polar,hydrophilic,charged(-) MYO9A Myo9a ENSG00000066933 myosin IXA chr15:72114632-72410918 This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011] coronary spastic angina Homozygous KO leads to obstructive hydrocephaly caused by blockage of the third ventricle and the rostral aqueduct caused by developmental failures of their ependymal cells. Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;NAS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO9A https://www.uniprot.org/uniprot/B2RTY4 https://hpo.jax.org/app/browse/search?q=MYO9A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604875 http://www.informatics.jax.org/searchtool/Search.do?query=MYO9A&submit=Quick%0D%1237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9A rs2415129 0.891973 0.9241 0.9447 0.25 3 12 exonic exonic exonic MYO9A MYO9A ENSG00000066933 nonsynonymous SNV nonsynonymous SNV unknown MYO9A:NM_006901:exon25:c.G3578A:p.G1193E, MYO9A:uc002atn.1:exon23:c.G3521A:p.G1174E,MYO9A:uc002atl.5:exon25:c.G3578A:p.G1193E,MYO9A:uc010biq.4:exon23:c.G2438A:p.G813E, UNKNOWN Het;C>T 822;76|44 Hom;C>T 3270;0|115 N N - 15 72954638 72954638 A G snp nonsynonymous SNV A893G E298G polar,hydrophilic,charged(-) aliphatic,neutral GOLGA6B ENSG00000215186 golgin A6 family member B chr15:72947079-72958735 This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin protein. [provided by RefSeq, Jul 2008] GO:0005794;Golgi apparatus;IEA http://www.genecards.org/index.php?path=/Search/keyword/GOLGA6B http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA6B&submit=Quick%0D%18315ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA6B rs201621826 0.0605032 0.0466 0.0640 0.25 3 12 exonic exonic exonic GOLGA6B GOLGA6B ENSG00000215186 nonsynonymous SNV nonsynonymous SNV unknown GOLGA6B:NM_018652:exon11:c.A893G:p.E298G, GOLGA6B:uc010uks.1:exon11:c.A893G:p.E298G, UNKNOWN Het;A>G 437;142|39 Hom;A>G 1132;3|45 N N - 15 74328116 74328116 A G snp nonsynonymous SNV A2314G S772G polar,hydrophilic,neutral aliphatic,neutral PML Pml ENSG00000140464 promyelocytic leukemia chr15:74287014-74340153 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] leukemia; Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; longevity; Body Height; Paget's disease Mice homozygous for disruptions of this gene have an increased susceptibility to infection and to induction of tumors. Regulation of PTEN localization GO:0001666;response to hypoxia;IDA|GO:0001932;regulation of protein phosphorylation;ISS|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;ISS|GO:0007050;cell cycle arrest;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007569;cell aging;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009411;response to UV;IEA|GO:0010332;response to gamma radiation;IEA|GO:0010522;regulation of calcium ion transport into cytosol;ISS|GO:0010761;fibroblast migration;IEA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0030099;myeloid cell differentiation;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030578;PML body organization;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0032469;endoplasmic reticulum calcium ion homeostasis;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0034097;response to cytokine;IDA|GO:0042752;regulation of circadian rhythm;ISS|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045165;cell fate commitment;IEA|GO:0045343;regulation of MHC class I biosynthetic process;IEA|GO:0045345;positive regulation of MHC class I biosynthetic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0050711;negative regulation of interleukin-1 secretion;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IEA|GO:0051457;maintenance of protein location in nucleus;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:0071353;cellular response to interleukin-4;IEA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0090398;cellular senescence;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1902187;negative regulation of viral release from host cell;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:2000779;regulation of double-strand break repair;IMP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000792;heterochromatin;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0016605;PML body;IDA|GO:0031901;early endosome membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0042406;extrinsic component of endoplasmic reticulum membrane;ISS GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PML https://www.uniprot.org/uniprot/P29590 https://hpo.jax.org/app/browse/search?q=PML&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102578 http://www.informatics.jax.org/searchtool/Search.do?query=PML&submit=Quick%0D%8028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PML rs743580 0.551917 0.4991 0.5226 0.10 1 10 exonic exonic exonic PML PML ENSG00000140464 nonsynonymous SNV nonsynonymous SNV unknown PML:NM_033239:exon8:c.A2314G:p.S772G,PML:NM_033250:exon7:c.A2170G:p.S724G, PML:uc002awy.3:exon3:c.A601G:p.S201G,PML:uc002awk.3:exon8:c.A2314G:p.S772G,PML:uc002awo.3:exon7:c.A2170G:p.S724G, UNKNOWN Het;A>G 1179;77|46 Hom;A>G 3350;2|113 N N - 15 74328141 74328141 G T snp nonsynonymous SNV G2339T G780V aliphatic,neutral aliphatic,hydrophobic,neutral PML Pml ENSG00000140464 promyelocytic leukemia chr15:74287014-74340153 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] leukemia; Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; longevity; Body Height; Paget's disease Mice homozygous for disruptions of this gene have an increased susceptibility to infection and to induction of tumors. Regulation of PTEN localization GO:0001666;response to hypoxia;IDA|GO:0001932;regulation of protein phosphorylation;ISS|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006461;protein complex assembly;IDA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;ISS|GO:0007050;cell cycle arrest;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IEA|GO:0007182;common-partner SMAD protein phosphorylation;IEA|GO:0007184;SMAD protein import into nucleus;IEA|GO:0007569;cell aging;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009411;response to UV;IEA|GO:0010332;response to gamma radiation;IEA|GO:0010522;regulation of calcium ion transport into cytosol;ISS|GO:0010761;fibroblast migration;IEA|GO:0016032;viral process;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0030099;myeloid cell differentiation;IEA|GO:0030155;regulation of cell adhesion;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0030578;PML body organization;IMP|GO:0032206;positive regulation of telomere maintenance;IMP|GO:0032469;endoplasmic reticulum calcium ion homeostasis;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0034097;response to cytokine;IDA|GO:0042752;regulation of circadian rhythm;ISS|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;ISS|GO:0043153;entrainment of circadian clock by photoperiod;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045165;cell fate commitment;IEA|GO:0045343;regulation of MHC class I biosynthetic process;IEA|GO:0045345;positive regulation of MHC class I biosynthetic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048511;rhythmic process;IEA|GO:0050711;negative regulation of interleukin-1 secretion;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IEA|GO:0051457;maintenance of protein location in nucleus;IDA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;IEA|GO:0071353;cellular response to interleukin-4;IEA|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:0090398;cellular senescence;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1902187;negative regulation of viral release from host cell;IDA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:2000779;regulation of double-strand break repair;IMP|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000792;heterochromatin;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0016605;PML body;IDA|GO:0031901;early endosome membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0042406;extrinsic component of endoplasmic reticulum membrane;ISS GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0032183;SUMO binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046332;SMAD binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PML https://www.uniprot.org/uniprot/P29590 https://hpo.jax.org/app/browse/search?q=PML&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102578 http://www.informatics.jax.org/searchtool/Search.do?query=PML&submit=Quick%0D%8028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PML rs743581 0.351238 0.3464 0.3599 0.10 1 10 exonic exonic exonic PML PML ENSG00000140464 nonsynonymous SNV nonsynonymous SNV unknown PML:NM_033239:exon8:c.G2339T:p.G780V,PML:NM_033250:exon7:c.G2195T:p.G732V, PML:uc002awy.3:exon3:c.G626T:p.G209V,PML:uc002awk.3:exon8:c.G2339T:p.G780V,PML:uc002awo.3:exon7:c.G2195T:p.G732V, UNKNOWN Het;G>T 1077;59|46 Hom;G>T 3117;0|109 N N - 15 78208880 78208880 G A snp nonsynonymous SNV C853T P285S hydrophobic,neutral polar,hydrophilic,neutral LOC645752 rs7182575 0.708267 0 0.7844 1 0 0 ncRNA_exonic exonic ncRNA_exonic LOC645752 LOC645752 ENSG00000260776,ENSG00000261244 Na nonsynonymous SNV Na Na LOC645752:uc010bky.2:exon14:c.C853T:p.P285S, Na Het;G>A 4920;47|205 Hom;G>A 4894;1|176 N N - 15 80263217 80263217 C T snp nonsynonymous SNV G245A G82D aliphatic,neutral polar,hydrophilic,charged(-) BCL2A1 Bcl2a1d ENSG00000140379 BCL2 related protein A1 chr15:80253231-80263788 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; dermatitis and eczema; longevity; Graft vs Host Disease; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Exercise Test; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Chronic renal failure|Kidney Failure, Chronic Homozygous null mutants show enhanced spontaneous apoptosis of neutrophils, while both heterozygous and homozygous null mutants lack LPS-induced neutrophil apoptosis inhibition. GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0021987;cerebral cortex development;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;TAS GO:0005737;cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA|GO:0051400;BH domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BCL2A1 https://www.uniprot.org/uniprot/Q16548 https://www.ncbi.nlm.nih.gov/omim/?term=601056 http://www.informatics.jax.org/searchtool/Search.do?query=BCL2A1&submit=Quick%0D%8011ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2A1 rs3826007 0.203474 0.1993 0.2344 0.69 9 13 exonic exonic exonic BCL2A1 BCL2A1 ENSG00000140379 nonsynonymous SNV nonsynonymous SNV unknown BCL2A1:NM_004049:exon1:c.G245A:p.G82D,BCL2A1:NM_001114735:exon1:c.G245A:p.G82D, BCL2A1:uc002bfc.4:exon1:c.G245A:p.G82D,BCL2A1:uc002bfd.4:exon1:c.G245A:p.G82D, UNKNOWN Het;C>T 1489;75|71 Hom;C>T 3106;0|115 N N - 15 80263345 80263345 A C snp nonsynonymous SNV T117G N39K polar,hydrophilic,neutral polar,hydrophilic,charged(+) BCL2A1 Bcl2a1d ENSG00000140379 BCL2 related protein A1 chr15:80253231-80263788 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; dermatitis and eczema; longevity; Graft vs Host Disease; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Exercise Test; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Chronic renal failure|Kidney Failure, Chronic Homozygous null mutants show enhanced spontaneous apoptosis of neutrophils, while both heterozygous and homozygous null mutants lack LPS-induced neutrophil apoptosis inhibition. GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0021987;cerebral cortex development;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;TAS GO:0005737;cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA|GO:0051400;BH domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BCL2A1 https://www.uniprot.org/uniprot/Q16548 https://www.ncbi.nlm.nih.gov/omim/?term=601056 http://www.informatics.jax.org/searchtool/Search.do?query=BCL2A1&submit=Quick%0D%8011ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2A1 rs1138358 0.458866 0.3629 0.3366 0.08 1 13 exonic exonic exonic BCL2A1 BCL2A1 ENSG00000140379 nonsynonymous SNV nonsynonymous SNV unknown BCL2A1:NM_004049:exon1:c.T117G:p.N39K,BCL2A1:NM_001114735:exon1:c.T117G:p.N39K, BCL2A1:uc002bfc.4:exon1:c.T117G:p.N39K,BCL2A1:uc002bfd.4:exon1:c.T117G:p.N39K, UNKNOWN Het;A>C 628;33|28 Hom;A>C 2348;0|80 N N - 15 80263406 80263406 C T snp nonsynonymous SNV G56A C19Y polar,hydrophobic,neutral aromatic,polar,hydrophobic BCL2A1 Bcl2a1d ENSG00000140379 BCL2 related protein A1 chr15:80253231-80263788 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; dermatitis and eczema; longevity; Graft vs Host Disease; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Exercise Test; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Chronic renal failure|Kidney Failure, Chronic Homozygous null mutants show enhanced spontaneous apoptosis of neutrophils, while both heterozygous and homozygous null mutants lack LPS-induced neutrophil apoptosis inhibition. GO:0006915;apoptotic process;IEA|GO:0007568;aging;IEA|GO:0021987;cerebral cortex development;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;TAS GO:0005737;cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA|GO:0051400;BH domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BCL2A1 https://www.uniprot.org/uniprot/Q16548 https://www.ncbi.nlm.nih.gov/omim/?term=601056 http://www.informatics.jax.org/searchtool/Search.do?query=BCL2A1&submit=Quick%0D%8011ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2A1 rs1138357 0.352037 0.2517 0.3033 0.08 1 13 exonic exonic exonic BCL2A1 BCL2A1 ENSG00000140379 nonsynonymous SNV nonsynonymous SNV unknown BCL2A1:NM_004049:exon1:c.G56A:p.C19Y,BCL2A1:NM_001114735:exon1:c.G56A:p.C19Y, BCL2A1:uc002bfc.4:exon1:c.G56A:p.C19Y,BCL2A1:uc002bfd.4:exon1:c.G56A:p.C19Y, UNKNOWN Het;C>T 618;33|34 Hom;C>T 1746;0|64 N N - 15 84488636 84488636 A G snp nonsynonymous SNV A437G H146R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ADAMTSL3 Adamtsl3 ENSG00000156218 ADAMTS like 3 chr15:84322838-84708594 Bipolar Disorder; Height; Body Height; Myocardial Infarction; height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3 https://www.uniprot.org/uniprot/P82987 https://www.ncbi.nlm.nih.gov/omim/?term=609199 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3 rs4483821 0.679313 0.5625 0.5401 0.15 2 13 exonic exonic exonic ADAMTSL3 ADAMTSL3 ENSG00000156218 nonsynonymous SNV nonsynonymous SNV unknown ADAMTSL3:NM_001301110:exon6:c.A437G:p.H146R,ADAMTSL3:NM_207517:exon6:c.A437G:p.H146R, ADAMTSL3:uc002bjz.4:exon6:c.A437G:p.H146R,ADAMTSL3:uc002bjy.1:exon6:c.A437G:p.H146R,ADAMTSL3:uc010bmt.1:exon6:c.A437G:p.H146R, UNKNOWN Het;A>G 693;19|31 Hom;A>G 1900;0|69 N N - 15 84539619 84539619 C G snp nonsynonymous SNV C868G L290V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ADAMTSL3 Adamtsl3 ENSG00000156218 ADAMTS like 3 chr15:84322838-84708594 Bipolar Disorder; Height; Body Height; Myocardial Infarction; height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3 https://www.uniprot.org/uniprot/P82987 https://www.ncbi.nlm.nih.gov/omim/?term=609199 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3 rs4144691 0.807508 0.8483 0.8061 0.08 1 13 exonic exonic exonic ADAMTSL3 ADAMTSL3 ENSG00000156218 nonsynonymous SNV nonsynonymous SNV unknown ADAMTSL3:NM_001301110:exon9:c.C868G:p.L290V,ADAMTSL3:NM_207517:exon9:c.C868G:p.L290V, ADAMTSL3:uc002bjz.4:exon9:c.C868G:p.L290V,ADAMTSL3:uc010bmt.1:exon9:c.C868G:p.L290V, UNKNOWN Het;C>G 1234;66|58 Hom;C>G 3128;0|121 N N - 15 84582124 84582124 G T snp nonsynonymous SNV G1981T V661L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ADAMTSL3 Adamtsl3 ENSG00000156218 ADAMTS like 3 chr15:84322838-84708594 Bipolar Disorder; Height; Body Height; Myocardial Infarction; height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL3 https://www.uniprot.org/uniprot/P82987 https://www.ncbi.nlm.nih.gov/omim/?term=609199 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL3&submit=Quick%0D%9953ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL3 rs4842838 0.685703 0.6182 0.5990 0.08 1 13 exonic exonic exonic ADAMTSL3 ADAMTSL3 ENSG00000156218 nonsynonymous SNV nonsynonymous SNV unknown ADAMTSL3:NM_001301110:exon16:c.G1981T:p.V661L,ADAMTSL3:NM_207517:exon16:c.G1981T:p.V661L, ADAMTSL3:uc002bjz.4:exon16:c.G1981T:p.V661L,ADAMTSL3:uc010bmt.1:exon16:c.G1981T:p.V661L, UNKNOWN Het;G>T 2016;117|101 Hom;G>T 4238;2|159 N N - 15 86122654 86122654 T C snp nonsynonymous SNV T1355C M452T hydrophobic,neutral polar,hydrophilic,neutral AKAP13 Akap13 ENSG00000170776 A-kinase anchoring protein 13 chr15:85923802-86292586 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis. G alpha (12/13) signalling events GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AKAP13 https://www.ncbi.nlm.nih.gov/omim/?term=604686 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13 rs2061821 0.583067 0.6271 0.6107 0.17 2 12 exonic exonic exonic AKAP13 AKAP13 ENSG00000170776 nonsynonymous SNV nonsynonymous SNV unknown AKAP13:NM_007200:exon7:c.T1355C:p.M452T,AKAP13:NM_006738:exon7:c.T1355C:p.M452T, AKAP13:uc002blu.2:exon7:c.T1355C:p.M452T,AKAP13:uc002blt.2:exon7:c.T1355C:p.M452T,AKAP13:uc002blv.2:exon7:c.T1355C:p.M452T, UNKNOWN Het;T>C 1040;72|49 Hom;T>C 3324;0|122 N N - 15 86122779 86122779 T C snp nonsynonymous SNV T1480C W494R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) AKAP13 Akap13 ENSG00000170776 A-kinase anchoring protein 13 chr15:85923802-86292586 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis. G alpha (12/13) signalling events GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AKAP13 https://www.ncbi.nlm.nih.gov/omim/?term=604686 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13 rs2061822 0.596246 0.6491 0.6322 0.08 1 12 exonic exonic exonic AKAP13 AKAP13 ENSG00000170776 nonsynonymous SNV nonsynonymous SNV unknown AKAP13:NM_007200:exon7:c.T1480C:p.W494R,AKAP13:NM_006738:exon7:c.T1480C:p.W494R, AKAP13:uc002blu.2:exon7:c.T1480C:p.W494R,AKAP13:uc002blt.2:exon7:c.T1480C:p.W494R,AKAP13:uc002blv.2:exon7:c.T1480C:p.W494R, UNKNOWN Het;T>C 1850;64|84 Hom;T>C 3032;0|109 N N - 15 86123019 86123019 C T snp nonsynonymous SNV C1720T R574C polar,hydrophilic,charged(+) polar,hydrophobic,neutral AKAP13 Akap13 ENSG00000170776 A-kinase anchoring protein 13 chr15:85923802-86292586 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis. G alpha (12/13) signalling events GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AKAP13 https://www.ncbi.nlm.nih.gov/omim/?term=604686 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13 rs2061824 0.583067 0.6267 0.6107 0.08 1 12 exonic exonic exonic AKAP13 AKAP13 ENSG00000170776 nonsynonymous SNV nonsynonymous SNV unknown AKAP13:NM_007200:exon7:c.C1720T:p.R574C,AKAP13:NM_006738:exon7:c.C1720T:p.R574C, AKAP13:uc002blu.2:exon7:c.C1720T:p.R574C,AKAP13:uc002blt.2:exon7:c.C1720T:p.R574C,AKAP13:uc002blv.2:exon7:c.C1720T:p.R574C, UNKNOWN Het;C>T 608;55|32 Hom;C>T 2941;0|106 N N - 15 86123833 86123833 T C snp nonsynonymous SNV T2534C V845A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AKAP13 Akap13 ENSG00000170776 A-kinase anchoring protein 13 chr15:85923802-86292586 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis. G alpha (12/13) signalling events GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AKAP13 https://www.ncbi.nlm.nih.gov/omim/?term=604686 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13 rs4075256 0.582069 0.6258 0.6072 0.08 1 12 exonic exonic exonic AKAP13 AKAP13 ENSG00000170776 nonsynonymous SNV nonsynonymous SNV unknown AKAP13:NM_007200:exon7:c.T2534C:p.V845A,AKAP13:NM_006738:exon7:c.T2534C:p.V845A, AKAP13:uc002blu.2:exon7:c.T2534C:p.V845A,AKAP13:uc002blt.2:exon7:c.T2534C:p.V845A,AKAP13:uc002blv.2:exon7:c.T2534C:p.V845A, UNKNOWN Het;T>C 2236;90|99 Hom;T>C 4675;0|164 N N - 15 86123988 86123988 G A snp nonsynonymous SNV G2689A V897M aliphatic,hydrophobic,neutral hydrophobic,neutral AKAP13 Akap13 ENSG00000170776 A-kinase anchoring protein 13 chr15:85923802-86292586 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis. G alpha (12/13) signalling events GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AKAP13 https://www.ncbi.nlm.nih.gov/omim/?term=604686 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13 rs4075254 0.582069 0.6264 0.6105 0.17 2 12 exonic exonic exonic AKAP13 AKAP13 ENSG00000170776 nonsynonymous SNV nonsynonymous SNV unknown AKAP13:NM_007200:exon7:c.G2689A:p.V897M,AKAP13:NM_006738:exon7:c.G2689A:p.V897M, AKAP13:uc002blu.2:exon7:c.G2689A:p.V897M,AKAP13:uc002blt.2:exon7:c.G2689A:p.V897M,AKAP13:uc002blv.2:exon7:c.G2689A:p.V897M, UNKNOWN Het;G>A 1460;65|67 Hom;G>A 2890;0|107 N N - 15 86124483 86124483 C G snp nonsynonymous SNV C3184G P1062A hydrophobic,neutral aliphatic,hydrophobic,neutral AKAP13 Akap13 ENSG00000170776 A-kinase anchoring protein 13 chr15:85923802-86292586 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis. G alpha (12/13) signalling events GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AKAP13 https://www.ncbi.nlm.nih.gov/omim/?term=604686 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13 rs4843074 0.581869 0.6259 0.6103 0.08 1 12 exonic exonic exonic AKAP13 AKAP13 ENSG00000170776 nonsynonymous SNV nonsynonymous SNV unknown AKAP13:NM_007200:exon7:c.C3184G:p.P1062A,AKAP13:NM_006738:exon7:c.C3184G:p.P1062A, AKAP13:uc002blu.2:exon7:c.C3184G:p.P1062A,AKAP13:uc002blt.2:exon7:c.C3184G:p.P1062A,AKAP13:uc002blv.2:exon7:c.C3184G:p.P1062A, UNKNOWN Het;C>G 1447;91|67 Hom;C>G 3752;0|129 N N - 15 86124555 86124555 G A snp nonsynonymous SNV G3256A D1086N polar,hydrophilic,charged(-) polar,hydrophilic,neutral AKAP13 Akap13 ENSG00000170776 A-kinase anchoring protein 13 chr15:85923802-86292586 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis. G alpha (12/13) signalling events GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AKAP13 https://www.ncbi.nlm.nih.gov/omim/?term=604686 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13 rs4843075 0.58127 0.6264 0.6102 0.08 1 12 exonic exonic exonic AKAP13 AKAP13 ENSG00000170776 nonsynonymous SNV nonsynonymous SNV unknown AKAP13:NM_007200:exon7:c.G3256A:p.D1086N,AKAP13:NM_006738:exon7:c.G3256A:p.D1086N, AKAP13:uc002blu.2:exon7:c.G3256A:p.D1086N,AKAP13:uc002blt.2:exon7:c.G3256A:p.D1086N,AKAP13:uc002blv.2:exon7:c.G3256A:p.D1086N, UNKNOWN Het;G>A 1518;101|76 Hom;G>A 4597;0|169 N N - 15 86124946 86124946 T C snp nonsynonymous SNV T3647C M1216T hydrophobic,neutral polar,hydrophilic,neutral AKAP13 Akap13 ENSG00000170776 A-kinase anchoring protein 13 chr15:85923802-86292586 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] smoking cessation; coronary spastic angina; Tobacco Use Disorder; breast cancer; Graft vs Host Disease Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis. G alpha (12/13) signalling events GO:0006468;protein phosphorylation;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007507;heart development;ISS|GO:0010611;regulation of cardiac muscle hypertrophy;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051168;nuclear export;IEA|GO:0055007;cardiac muscle cell differentiation;ISS|GO:0060297;regulation of sarcomere organization;ISS|GO:0060348;bone development;ISS|GO:0071875;adrenergic receptor signaling pathway;IMP|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IEA|GO:0086023;adrenergic receptor signaling pathway involved in heart process;ISS|GO:1900169;regulation of glucocorticoid mediated signaling pathway;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;IEA|GO:0016020;membrane;TAS|GO:0030864;cortical actin cytoskeleton;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004691;cAMP-dependent protein kinase activity;IEA|GO:0004871;signal transducer activity;TAS|GO:0005078;MAP-kinase scaffold activity;IDA|GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0017048;Rho GTPase binding;IPI|GO:0032947;protein complex scaffold;IDA|GO:0046872;metal ion binding;IEA|GO:0051018;protein kinase A binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/AKAP13 https://www.ncbi.nlm.nih.gov/omim/?term=604686 http://www.informatics.jax.org/searchtool/Search.do?query=AKAP13&submit=Quick%0D%12771ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKAP13 rs7162168 0.582668 0.6270 0.6095 0.08 1 12 exonic exonic exonic AKAP13 AKAP13 ENSG00000170776 nonsynonymous SNV nonsynonymous SNV unknown AKAP13:NM_007200:exon7:c.T3647C:p.M1216T,AKAP13:NM_006738:exon7:c.T3647C:p.M1216T, AKAP13:uc002blu.2:exon7:c.T3647C:p.M1216T,AKAP13:uc002blt.2:exon7:c.T3647C:p.M1216T,AKAP13:uc002blv.2:exon7:c.T3647C:p.M1216T, UNKNOWN Het;T>C 1348;63|41 Hom;T>C 2636;1|95 N N - 15 89169858 89169858 A G snp nonsynonymous SNV A418G N140D polar,hydrophilic,neutral polar,hydrophilic,charged(-) AEN Aen ENSG00000181026 apoptosis enhancing nuclease chr15:89164527-89175513 Alzheimer Disease GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0031965;nuclear membrane;IDA GO:0003676;nucleic acid binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AEN https://www.ncbi.nlm.nih.gov/omim/?term=610177 http://www.informatics.jax.org/searchtool/Search.do?query=AEN&submit=Quick%0D%14571ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AEN rs8027765 0.758387 0.8137 0.8602 0.23 3 13 exonic exonic exonic AEN AEN ENSG00000181026 nonsynonymous SNV nonsynonymous SNV unknown AEN:NM_022767:exon2:c.A418G:p.N140D, AEN:uc010bnm.1:exon1:c.A418G:p.N140D,AEN:uc010bnl.2:exon2:c.A418G:p.N140D,AEN:uc002bmt.2:exon2:c.A418G:p.N140D, UNKNOWN Het;A>G 2013;109|96 Hom;A>G 6037;1|217 N N - 15 89417238 89417238 A G snp nonsynonymous SNV A7499G Q2500R polar,hydrophilic,neutral polar,hydrophilic,charged(+) ACAN Acan ENSG00000157766 aggrecan chr15:89346674-89418585 This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008] Intervertebral Disk Degeneration; height; myelopathy, HTLV-1 associated; Intervertebral Disk Displacement; Ache, Low Back|Intervertebral Disk Displacement|Low Back Pain|Occupational Diseases; scoliosis; Arthritis, Rheumatoid|; lumbar disc degeneration; Type 2 Diabetes| edema | rosiglitazone; bilateral hand osteoarthritis; Height; Alzheimer's disease ; Funnel Chest; Tobacco Use Disorder Spontaneous mutations in this gene lead to dwarfism, cartilage, skeletal and limb anomalies, craniofacial defects, hearing loss and neonatal death due to respiratory failure. Homozygotes for an ENU-induced allele show cardiomyopathy as well as cleft palate, disproportionate dwarfism and brachypodia. GO:0001502;cartilage condensation;IEA|GO:0002063;chondrocyte development;IEA|GO:0007155;cell adhesion;IEA|GO:0007507;heart development;IEA|GO:0030166;proteoglycan biosynthetic process;IEA|GO:0030199;collagen fibril organization;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA GO:0005509;calcium ion binding;IEA|GO:0005540;hyaluronic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACAN https://hpo.jax.org/app/browse/search?q=ACAN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=155760 http://www.informatics.jax.org/searchtool/Search.do?query=ACAN&submit=Quick%0D%10128ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACAN rs1126823 0.406749 0.3953 0.2928 0.17 2 12 exonic exonic exonic ACAN ACAN ENSG00000157766 nonsynonymous SNV nonsynonymous SNV unknown ACAN:NM_013227:exon17:c.A7499G:p.Q2500R, ACAN:uc010upo.1:exon17:c.A7499G:p.Q2500R, UNKNOWN Het;A>G 1107;78|54 Hom;A>G 3253;0|118 N N - 15 89436244 89436244 T C snp nonsynonymous SNV A100G T34A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral HAPLN3 Hapln3 ENSG00000140511 hyaluronan and proteoglycan link protein 3 chr15:89420519-89438857 This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008] GO:0001501;skeletal system development;IBA|GO:0007155;cell adhesion;IEA|GO:0007417;central nervous system development;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA GO:0005201;extracellular matrix structural constituent;IBA|GO:0005540;hyaluronic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HAPLN3 https://www.uniprot.org/uniprot/Q96S86 http://www.informatics.jax.org/searchtool/Search.do?query=HAPLN3&submit=Quick%0D%8040ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAPLN3 rs8024779 0.571086 0 0.5396 0.29 2 7 intronic exonic exonic HAPLN3 HAPLN3 ENSG00000140511 Na nonsynonymous SNV unknown Na HAPLN3:uc002bnd.3:exon2:c.A100G:p.T34A, UNKNOWN Het;T>C 780;47|37 Hom;T>C 1801;0|68 N N - 15 89436295 89436295 G A snp stopgain C49T Q17X polar,hydrophilic,neutral HAPLN3 Hapln3 ENSG00000140511 hyaluronan and proteoglycan link protein 3 chr15:89420519-89438857 This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008] GO:0001501;skeletal system development;IBA|GO:0007155;cell adhesion;IEA|GO:0007417;central nervous system development;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA GO:0005201;extracellular matrix structural constituent;IBA|GO:0005540;hyaluronic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HAPLN3 https://www.uniprot.org/uniprot/Q96S86 http://www.informatics.jax.org/searchtool/Search.do?query=HAPLN3&submit=Quick%0D%8040ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAPLN3 rs8039131 0.397564 0 0.3406 0.25 1 4 intronic exonic exonic HAPLN3 HAPLN3 ENSG00000140511 Na stopgain unknown Na HAPLN3:uc002bnd.3:exon2:c.C49T:p.Q17X, UNKNOWN Het;G>A 675;51|34 Hom;G>A 1742;0|69 N N - 15 89450587 89450587 G T snp nonsynonymous SNV C226A L76M aliphatic,hydrophobic,neutral hydrophobic,neutral MFGE8 Mfge8 ENSG00000140545 milk fat globule-EGF factor 8 protein chr15:89441916-89456642 This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] kidney aging; Lupus Erythematosus, Systemic Mice homozygous for disruptions in this gene display reduced male fertility associated with impaired zona pellucida binding. Fertility is unaffected in female mutant mice. Splenomegaly occurs with age and defects occur in phagocytosis. Amyloid fiber formation GO:0001525;angiogenesis;IEA|GO:0006910;phagocytosis, recognition;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007155;cell adhesion;IEA|GO:0007338;single fertilization;IEA|GO:0016032;viral process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0050766;positive regulation of phagocytosis;IEA|GO:2000427;positive regulation of apoptotic cell clearance;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0019897;extrinsic component of plasma membrane;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA GO:0001786;phosphatidylserine binding;IEA|GO:0005178;integrin binding;IEA|GO:0008429;phosphatidylethanolamine binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MFGE8 https://www.uniprot.org/uniprot/Q08431 https://www.ncbi.nlm.nih.gov/omim/?term=602281 http://www.informatics.jax.org/searchtool/Search.do?query=MFGE8&submit=Quick%0D%8050ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFGE8 rs1878326 0.638379 0.6972 0.6218 0.25 3 12 exonic exonic exonic MFGE8 MFGE8 ENSG00000140545 nonsynonymous SNV nonsynonymous SNV unknown MFGE8:NM_001114614:exon3:c.C226A:p.L76M,MFGE8:NM_005928:exon3:c.C226A:p.L76M, MFGE8:uc002bnh.4:exon3:c.C226A:p.L76M,MFGE8:uc010upq.2:exon2:c.C94A:p.L32M,MFGE8:uc010bno.3:exon2:c.C94A:p.L32M,MFGE8:uc010bnn.3:exon4:c.C202A:p.L68M,MFGE8:uc002bng.4:exon3:c.C226A:p.L76M, UNKNOWN Het;G>T 690;65|38 Hom;G>T 2577;0|98 N N - 15 90245174 90245174 T A snp nonsynonymous SNV T197A L66H aliphatic,hydrophobic,neutral aromatic,polar,hydrophilic,charged(+) WDR93 Wdr93 ENSG00000140527 WD repeat domain 93 chr15:90234028-90286869 Amyotrophic Lateral Sclerosis GO:0022900;electron transport chain;IEA GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDR93 https://www.uniprot.org/uniprot/Q6P2C0 http://www.informatics.jax.org/searchtool/Search.do?query=WDR93&submit=Quick%0D%8046ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR93 rs4287542 0.391973 0.4608 0.4089 0.08 1 13 exonic exonic exonic WDR93 WDR93 ENSG00000140527 nonsynonymous SNV nonsynonymous SNV unknown WDR93:NM_001284395:exon2:c.T197A:p.L66H,WDR93:NM_001284396:exon2:c.T197A:p.L66H,WDR93:NM_020212:exon2:c.T197A:p.L66H, WDR93:uc002bok.4:exon2:c.T197A:p.L66H,WDR93:uc002boj.3:exon2:c.T197A:p.L66H,WDR93:uc010bnr.3:exon2:c.T197A:p.L66H, UNKNOWN Het;T>A 513;45|28 Hom;T>A 2070;0|80 N N - 15 90260145 90260145 T A snp nonsynonymous SNV T760A S254T polar,hydrophilic,neutral polar,hydrophilic,neutral WDR93 Wdr93 ENSG00000140527 WD repeat domain 93 chr15:90234028-90286869 Amyotrophic Lateral Sclerosis GO:0022900;electron transport chain;IEA GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDR93 https://www.uniprot.org/uniprot/Q6P2C0 http://www.informatics.jax.org/searchtool/Search.do?query=WDR93&submit=Quick%0D%8046ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR93 rs7163367 0.3752 0.4510 0.3914 0.08 1 13 exonic exonic exonic WDR93 WDR93 ENSG00000140527 nonsynonymous SNV nonsynonymous SNV unknown WDR93:NM_001284395:exon7:c.T760A:p.S254T,WDR93:NM_020212:exon7:c.T760A:p.S254T, WDR93:uc002boj.3:exon7:c.T760A:p.S254T,WDR93:uc010bnr.3:exon7:c.T760A:p.S254T, UNKNOWN Het;T>A 574;27|29 Hom;T>A 1362;2|57 N N - 15 90294304 90294304 C CG indel frameshift substitution 159_159delinsCG MESP1 Mesp1 ENSG00000166823 mesoderm posterior bHLH transcription factor 1 chr15:90291892-90294541 Homozygotes for targeted null mutations die by embryonic day 10.5 with growth retardation and heart defects. GO:0001707;mesoderm formation;IBA|GO:0001756;somitogenesis;IBA|GO:0001947;heart looping;IEA|GO:0003007;heart morphogenesis;IEA|GO:0003139;secondary heart field specification;IEA|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003210;cardiac atrium formation;IMP|GO:0003211;cardiac ventricle formation;IMP|GO:0003236;sinus venosus morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003259;cardioblast anterior-lateral migration;IEA|GO:0003260;cardioblast migration;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;IEA|GO:0008078;mesodermal cell migration;IEA|GO:0009880;embryonic pattern specification;IBA|GO:0022008;neurogenesis;IMP|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0035481;positive regulation of Notch signaling pathway involved in heart induction;IEA|GO:0042662;negative regulation of mesodermal cell fate specification;IEA|GO:0042664;negative regulation of endodermal cell fate specification;IEA|GO:0045446;endothelial cell differentiation;IMP|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048368;lateral mesoderm development;IEA|GO:0051155;positive regulation of striated muscle cell differentiation;IEA|GO:0055007;cardiac muscle cell differentiation;IMP|GO:0060913;cardiac cell fate determination;IEA|GO:0060921;sinoatrial node cell differentiation;IMP|GO:0060947;cardiac vascular smooth muscle cell differentiation;IMP|GO:0060975;cardioblast migration to the midline involved in heart field formation;IEA|GO:0070368;positive regulation of hepatocyte differentiation;IEA|GO:0090082;positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway;IEA GO:0005634;nucleus;IC GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0035326;enhancer binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MESP1 https://www.ncbi.nlm.nih.gov/omim/?term=608689 http://www.informatics.jax.org/searchtool/Search.do?query=MESP1&submit=Quick%0D%11874ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MESP1 rs759335947 0 0.0232 0.0957 1 0 0 exonic exonic exonic MESP1 MESP1 ENSG00000166823 frameshift substitution frameshift substitution unknown MESP1:NM_018670:exon1:c.159_159delinsCG, MESP1:uc002bol.3:exon1:c.159_159delinsCG, UNKNOWN Het;+G 73;5|3 Hom;+G 282;0|8 N N - 15 90294306 90294306 C CACGGGGCTCGG indel frameshift substitution 157_157delinsCCGAGCCCCGTG MESP1 Mesp1 ENSG00000166823 mesoderm posterior bHLH transcription factor 1 chr15:90291892-90294541 Homozygotes for targeted null mutations die by embryonic day 10.5 with growth retardation and heart defects. GO:0001707;mesoderm formation;IBA|GO:0001756;somitogenesis;IBA|GO:0001947;heart looping;IEA|GO:0003007;heart morphogenesis;IEA|GO:0003139;secondary heart field specification;IEA|GO:0003143;embryonic heart tube morphogenesis;IEA|GO:0003210;cardiac atrium formation;IMP|GO:0003211;cardiac ventricle formation;IMP|GO:0003236;sinus venosus morphogenesis;IEA|GO:0003241;growth involved in heart morphogenesis;IEA|GO:0003259;cardioblast anterior-lateral migration;IEA|GO:0003260;cardioblast migration;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;IEA|GO:0008078;mesodermal cell migration;IEA|GO:0009880;embryonic pattern specification;IBA|GO:0022008;neurogenesis;IMP|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0035481;positive regulation of Notch signaling pathway involved in heart induction;IEA|GO:0042662;negative regulation of mesodermal cell fate specification;IEA|GO:0042664;negative regulation of endodermal cell fate specification;IEA|GO:0045446;endothelial cell differentiation;IMP|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048368;lateral mesoderm development;IEA|GO:0051155;positive regulation of striated muscle cell differentiation;IEA|GO:0055007;cardiac muscle cell differentiation;IMP|GO:0060913;cardiac cell fate determination;IEA|GO:0060921;sinoatrial node cell differentiation;IMP|GO:0060947;cardiac vascular smooth muscle cell differentiation;IMP|GO:0060975;cardioblast migration to the midline involved in heart field formation;IEA|GO:0070368;positive regulation of hepatocyte differentiation;IEA|GO:0090082;positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway;IEA GO:0005634;nucleus;IC GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0035326;enhancer binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MESP1 https://www.ncbi.nlm.nih.gov/omim/?term=608689 http://www.informatics.jax.org/searchtool/Search.do?query=MESP1&submit=Quick%0D%11874ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MESP1 rs763577487 0 0.2804 0.0640 1 0 0 exonic exonic exonic MESP1 MESP1 ENSG00000166823 frameshift substitution frameshift substitution unknown MESP1:NM_018670:exon1:c.157_157delinsCCGAGCCCCGTG, MESP1:uc002bol.3:exon1:c.157_157delinsCCGAGCCCCGTG, UNKNOWN Het;+ACGGGGCTCGG 231;5|7 Hom;+ACGGGGCTCGG 346;0|8 N N - 15 90335788 90335788 C T snp nonsynonymous SNV G2255A S752N polar,hydrophilic,neutral polar,hydrophilic,neutral ANPEP Anpep ENSG00000166825 alanyl aminopeptidase, membrane chr15:90328120-90358633 Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008] attention deficit disorder conduct disorder oppositional defiant disorder; Heart Failure; SARS; Hypertension; coeliac disease.; Depressive Disorder, Major; Tobacco Use Disorder; lung cancer Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation. Neutrophil degranulation GO:0001525;angiogenesis;IEA|GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;IBA|GO:0007267;cell-cell signaling;IBA|GO:0007275;multicellular organism development;IEA|GO:0008217;regulation of blood pressure;IBA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043171;peptide catabolic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0046718;viral entry into host cell;IEA GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004177;aminopeptidase activity;TAS|GO:0004872;receptor activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/ANPEP https://www.ncbi.nlm.nih.gov/omim/?term=151530 http://www.informatics.jax.org/searchtool/Search.do?query=ANPEP&submit=Quick%0D%11875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANPEP rs25651 0.350639 0.3754 0.3099 0.15 2 13 exonic exonic exonic ANPEP ANPEP ENSG00000166825 nonsynonymous SNV nonsynonymous SNV unknown ANPEP:NM_001150:exon17:c.G2255A:p.S752N, ANPEP:uc002bop.4:exon17:c.G2255A:p.S752N, UNKNOWN Het;C>T 716;49|38 Hom;C>T 1950;2|76 N N - 15 95399291 95399291 A C snp nonsynonymous SNV A589C I197L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LOC440311 rs12591416 0.835663 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic LOC440311 LOC440311 ENSG00000260521 Na nonsynonymous SNV Na Na LOC440311:uc031quc.1:exon1:c.A589C:p.I197L, Na Het;A>C 2224;128|105 Hom;A>C 5221;0|174 N N - 15 99511873 99511873 G A snp nonsynonymous SNV C425T A142V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PGPEP1L Pgpep1l ENSG00000183571 pyroglutamyl-peptidase I-like chr15:99511459-99551024 Glucose GO:0006508;proteolysis;IEA GO:0005829;cytosol;IBA GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016920;pyroglutamyl-peptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PGPEP1L http://www.informatics.jax.org/searchtool/Search.do?query=PGPEP1L&submit=Quick%0D%15013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PGPEP1L rs2715423 0.127396 0.2142 0.2995 0.46 6 13 exonic exonic exonic PGPEP1L PGPEP1L ENSG00000183571 nonsynonymous SNV nonsynonymous SNV unknown PGPEP1L:NM_001102612:exon5:c.C425T:p.A142V,PGPEP1L:NM_001167902:exon5:c.C263T:p.A88V, PGPEP1L:uc002bun.3:exon5:c.C263T:p.A88V,PGPEP1L:uc010bop.3:exon4:c.C259T:p.R87W,PGPEP1L:uc002bum.3:exon5:c.C425T:p.A142V, UNKNOWN Het;G>A 1655;69|79 Hom;G>A 3337;2|127 N N - 15 99653800 99653800 T C snp nonsynonymous SNV T812C V271A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SYNM Synm ENSG00000182253 synemin chr15:99638420-99675798 The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit a mild skeletal muscle phenotype characterized by abnormal muscle fiber morphology and increased sarcolemmal deformability and susceptibility to injury. GO:0031443;fast-twitch skeletal muscle fiber contraction;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005882;intermediate filament;IEA|GO:0005912;adherens junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043034;costamere;IDA|GO:0045111;intermediate filament cytoskeleton;IDA|GO:0060053;neurofilament cytoskeleton;TAS GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;IEA|GO:0017166;vinculin binding;IDA|GO:0019215;intermediate filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SYNM https://www.ncbi.nlm.nih.gov/omim/?term=606087 http://www.informatics.jax.org/searchtool/Search.do?query=SYNM&submit=Quick%0D%14754ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYNM rs2305445 0.574681 0.5451 0.5891 0.22 2 9 exonic exonic exonic SYNM SYNM ENSG00000182253 unknown nonsynonymous SNV unknown UNKNOWN SYNM:uc002buo.3:exon3:c.T812C:p.V271A,SYNM:uc002bup.3:exon3:c.T812C:p.V271A, UNKNOWN Het;T>C 1367;50|60 Hom;T>C 2667;0|98 N N - 16 10769958 10769958 T C snp nonsynonymous SNV A944G Q315R polar,hydrophilic,neutral polar,hydrophilic,charged(+) TEKT5 Tekt5 ENSG00000153060 tektin 5 chr16:10721358-10788802 Cholesterol; Cholesterol, LDL; Hemoglobin A, Glycosylated; Alcoholism; Neutrophils; Tobacco Use Disorder GO:0030317;flagellated sperm motility;IBA|GO:0060271;cilium assembly;IBA|GO:0060294;cilium movement involved in cell motility;IBA GO:0005634;nucleus;IDA|GO:0005929;cilium;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TEKT5 https://www.uniprot.org/uniprot/Q96M29 http://www.informatics.jax.org/searchtool/Search.do?query=TEKT5&submit=Quick%0D%9622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEKT5 rs2719710 0.634185 0.4813 0.5002 0.08 1 13 exonic exonic exonic TEKT5 TEKT5 ENSG00000153060 nonsynonymous SNV nonsynonymous SNV unknown TEKT5:NM_144674:exon5:c.A944G:p.Q315R, TEKT5:uc002czz.1:exon5:c.A944G:p.Q315R, UNKNOWN Het;T>C 1920;122|98 Hom;T>C 4318;0|162 N N - 16 1115493 1115493 G GT indel frameshift substitution 1017_1017delinsAC SSTR5-AS1 rs200810931 0 0 0.1272 1 0 0 ncRNA_exonic exonic ncRNA_exonic SSTR5-AS1 SSTR5-AS1 ENSG00000181791,ENSG00000261713 Na frameshift substitution Na Na SSTR5-AS1:uc002cko.3:exon4:c.1017_1017delinsAC, Na Het;+T 2020;71|73 Hom;+T 4225;0|125 N N - 16 1116169 1116169 A G snp nonsynonymous SNV T341C L114P aliphatic,hydrophobic,neutral hydrophobic,neutral SSTR5-AS1 rs7189857 0.44988 0 0.4790 1 0 0 ncRNA_exonic exonic ncRNA_exonic SSTR5-AS1 SSTR5-AS1 ENSG00000181791,ENSG00000261713,ENSG00000261720 Na nonsynonymous SNV Na Na SSTR5-AS1:uc002cko.3:exon4:c.T341C:p.L114P, Na Het;A>G 1196;62|51 Hom;A>G 3127;0|103 N N - 16 1129872 1129872 C T snp nonsynonymous SNV C1004T P335L hydrophobic,neutral aliphatic,hydrophobic,neutral SSTR5 Sstr5 ENSG00000162009 somatostatin receptor 5 chr16:1122756-1131454 Somatostatin and its related peptide cortistatin exert multiple biological actions on normal and tumoral tissue targets by interacting with somatostatin receptors (SSTRs). The protein encoded by this gene is one of the SSTRs, which is a multi-pass membrane protein and belongs to the G-protein coupled receptor 1 family. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase, and different regions of this receptor molecule are required for the activation of different signaling pathways. A mutation in this gene results in somatostatin analog resistance. Alternatively spliced transcript variants have been identified in this gene.[provided by RefSeq, Feb 2010] breast cancer|prostate cancer; acromegaly; bipolar affective disorder.; bipolar affective disorder; breast cancer; Bulimia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Psychiatric Disorders; Alcoholism; prostate cancer Homozygotes for one null allele display decreased numbers of insulin positive cells in the pancreas. Homozygotes for a second null allele have normal pancreatic islet morphology but increased insulin secretion, decreased blood insulin and glucose levels,and improved glucose tolerance. G alpha (i) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007268;chemical synaptic transmission;IBA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0032467;positive regulation of cytokinesis;IMP|GO:0038170;somatostatin signaling pathway;IEA|GO:0042593;glucose homeostasis;IEA|GO:0050796;regulation of insulin secretion;IEA|GO:0071385;cellular response to glucocorticoid stimulus;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043005;neuron projection;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004994;somatostatin receptor activity;TAS|GO:0042923;neuropeptide binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/SSTR5 https://www.ncbi.nlm.nih.gov/omim/?term=182455 http://www.informatics.jax.org/searchtool/Search.do?query=SSTR5&submit=Quick%0D%10641ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SSTR5 rs169068 0.518171 0.4866 0.5386 0.15 2 13 exonic exonic exonic SSTR5 SSTR5 ENSG00000162009 nonsynonymous SNV nonsynonymous SNV unknown SSTR5:NM_001053:exon1:c.C1004T:p.P335L,SSTR5:NM_001172560:exon2:c.C1004T:p.P335L, SSTR5:uc021taf.1:exon2:c.C1004T:p.P335L,SSTR5:uc002ckq.3:exon1:c.C1004T:p.P335L, UNKNOWN Het;C>T 789;46|35 Hom;C>T 2248;0|80 N N - 16 12009304 12009304 C A snp nonsynonymous SNV G274T G92C aliphatic,neutral polar,hydrophobic,neutral GSPT1 Gspt1 ENSG00000103342 G1 to S phase transition 1 chr16:11961985-12009939 Diabetes Mellitus Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0002184;cytoplasmic translational termination;IBA|GO:0006412;translation;IEA|GO:0006415;translational termination;TAS|GO:0006479;protein methylation;IDA GO:0005622;intracellular;NAS|GO:0005829;cytosol;TAS|GO:0018444;translation release factor complex;IBA GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003747;translation release factor activity;IMP|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GSPT1 https://www.uniprot.org/uniprot/P15170 https://www.ncbi.nlm.nih.gov/omim/?term=139259 http://www.informatics.jax.org/searchtool/Search.do?query=GSPT1&submit=Quick%0D%3009ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GSPT1 rs11544193 0.302716 0.4542 0.5308 0.64 7 11 exonic exonic exonic GSPT1 GSPT1 ENSG00000103342 nonsynonymous SNV nonsynonymous SNV unknown GSPT1:NM_001130006:exon1:c.G274T:p.G92C,GSPT1:NM_002094:exon1:c.G274T:p.G92C, GSPT1:uc002dbt.3:exon1:c.G274T:p.G92C,GSPT1:uc002dbu.3:exon1:c.G274T:p.G92C, UNKNOWN Het;C>A 253;10|15 Hom;C>A 1456;0|35 N N - 16 15225148 15225148 G C snp nonsynonymous SNV C28G Q10E polar,hydrophilic,neutral polar,hydrophilic,charged(-) FLJ00285 rs11866336 0.134984 0 0.1333 1 0 0 ncRNA_exonic exonic ncRNA_exonic PKD1P6 FLJ00285 ENSG00000188599,ENSG00000250251,ENSG00000270580 Na nonsynonymous SNV Na Na FLJ00285:uc002ddh.2:exon1:c.C28G:p.Q10E,FLJ00285:uc010uzt.2:exon1:c.C28G:p.Q10E, Na Het;G>C 1023;65|45 Hom;G>C 2055;2|67 N N - 16 1536380 1536380 G T snp nonsynonymous SNV C982A L328M aliphatic,hydrophobic,neutral hydrophobic,neutral PTX4 Ptx4 ENSG00000251692 pentraxin 4 chr16:1535887-1538982 This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016] GO:0005576;extracellular region;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTX4 https://www.ncbi.nlm.nih.gov/omim/?term=613442 http://www.informatics.jax.org/searchtool/Search.do?query=PTX4&submit=Quick%0D%20008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX4 rs2667672 0.309904 0.3543 0.2393 0.31 4 13 exonic exonic exonic PTX4 PTX4 ENSG00000251692 nonsynonymous SNV nonsynonymous SNV unknown PTX4:NM_001013658:exon3:c.C982A:p.L328M, PTX4:uc010uvf.2:exon3:c.C982A:p.L328M, UNKNOWN Het;G>T 876;30|39 Hom;G>T 1942;0|73 N N - 16 1536499 1536499 G T snp nonsynonymous SNV C863A A288D aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) PTX4 Ptx4 ENSG00000251692 pentraxin 4 chr16:1535887-1538982 This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016] GO:0005576;extracellular region;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTX4 https://www.ncbi.nlm.nih.gov/omim/?term=613442 http://www.informatics.jax.org/searchtool/Search.do?query=PTX4&submit=Quick%0D%20008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX4 rs2745097 0.279353 0.3200 0.2330 0.23 3 13 exonic exonic exonic PTX4 PTX4 ENSG00000251692 nonsynonymous SNV nonsynonymous SNV unknown PTX4:NM_001013658:exon3:c.C863A:p.A288D, PTX4:uc010uvf.2:exon3:c.C863A:p.A288D, UNKNOWN Het;G>T 1246;64|59 Hom;G>T 1919;1|74 N N - 16 1536535 1536535 C T snp nonsynonymous SNV G827A R276K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) PTX4 Ptx4 ENSG00000251692 pentraxin 4 chr16:1535887-1538982 This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016] GO:0005576;extracellular region;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTX4 https://www.ncbi.nlm.nih.gov/omim/?term=613442 http://www.informatics.jax.org/searchtool/Search.do?query=PTX4&submit=Quick%0D%20008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX4 rs2745098 0.496406 0.4721 0.4069 0.15 2 13 exonic exonic exonic PTX4 PTX4 ENSG00000251692 nonsynonymous SNV nonsynonymous SNV unknown PTX4:NM_001013658:exon3:c.G827A:p.R276K, PTX4:uc010uvf.2:exon3:c.G827A:p.R276K, UNKNOWN Het;C>T 1079;58|53 Hom;C>T 2043;0|74 N N - 16 1537455 1537455 T C snp nonsynonymous SNV A643G R215G polar,hydrophilic,charged(+) aliphatic,neutral PTX4 Ptx4 ENSG00000251692 pentraxin 4 chr16:1535887-1538982 This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016] GO:0005576;extracellular region;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTX4 https://www.ncbi.nlm.nih.gov/omim/?term=613442 http://www.informatics.jax.org/searchtool/Search.do?query=PTX4&submit=Quick%0D%20008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX4 rs2667673 0.535743 0.4747 0.4169 0.08 1 13 exonic exonic exonic PTX4 PTX4 ENSG00000251692 nonsynonymous SNV nonsynonymous SNV unknown PTX4:NM_001013658:exon2:c.A643G:p.R215G, PTX4:uc010uvf.2:exon2:c.A643G:p.R215G, UNKNOWN Het;T>C 298;21|14 Hom;T>C 1989;0|55 N N - 16 1538363 1538363 C A snp nonsynonymous SNV G106T G36C aliphatic,neutral polar,hydrophobic,neutral PTX4 Ptx4 ENSG00000251692 pentraxin 4 chr16:1535887-1538982 This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016] GO:0005576;extracellular region;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTX4 https://www.ncbi.nlm.nih.gov/omim/?term=613442 http://www.informatics.jax.org/searchtool/Search.do?query=PTX4&submit=Quick%0D%20008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX4 rs1040499 0.499601 0.4806 0.4071 0.09 1 11 exonic exonic exonic PTX4 PTX4 ENSG00000251692 nonsynonymous SNV nonsynonymous SNV unknown PTX4:NM_001013658:exon1:c.G106T:p.G36C, PTX4:uc010uvf.2:exon1:c.G106T:p.G36C, UNKNOWN Het;C>A 1590;83|78 Hom;C>A 2790;2|110 N N - 16 1545448 1545448 A G snp nonsynonymous SNV A437G Q146R polar,hydrophilic,neutral polar,hydrophilic,charged(+) TELO2 Telo2 ENSG00000100726 telomere maintenance 2 chr16:1543345-1560458 This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009] TELO2 Syndromic Intellectual Disability Disorder Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E13.5. GO:0032006;regulation of TOR signaling;IMP|GO:0050821;protein stabilization;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IMP|GO:1904263;positive regulation of TORC1 signaling;IMP|GO:1904515;positive regulation of TORC2 signaling;IMP GO:0000781;chromosome, telomeric region;IEA|GO:0005622;intracellular;IDA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016604;nuclear body;IDA|GO:0031931;TORC1 complex;IDA|GO:0031932;TORC2 complex;IDA|GO:0034399;nuclear periphery;IDA GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IDA|GO:0032947;protein complex scaffold;IEA|GO:0051879;Hsp90 protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TELO2 https://www.uniprot.org/uniprot/Q9Y4R8 https://hpo.jax.org/app/browse/search?q=TELO2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611140 http://www.informatics.jax.org/searchtool/Search.do?query=TELO2&submit=Quick%0D%2589ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TELO2 rs2235624 0.463658 0.4834 0.6083 0.15 2 13 exonic exonic exonic TELO2 TELO2 ENSG00000100726 nonsynonymous SNV nonsynonymous SNV unknown TELO2:NM_016111:exon3:c.A437G:p.Q146R, TELO2:uc002cly.3:exon3:c.A437G:p.Q146R,TELO2:uc010uvg.1:exon3:c.A437G:p.Q146R, UNKNOWN Het;A>G 967;46|50 Hom;A>G 1553;0|59 N N - 16 1838640 1838640 T C snp nonsynonymous SNV T295C W99R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) NUBP2 Nubp2 ENSG00000095906 nucleotide binding protein 2 chr16:1832902-1839192 This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013] lung cancer ; Insulin-Like Growth Factor Binding Protein 5; chronic obstructive pulmonary disease; lung cancer; bladder cancer Cytosolic iron-sulfur cluster assembly GO:0016226;iron-sulfur cluster assembly;IEA|GO:0030030;cell projection organization;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0031616;spindle pole centrosome;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUBP2 https://www.uniprot.org/uniprot/Q9Y5Y2 https://www.ncbi.nlm.nih.gov/omim/?term=610779 http://www.informatics.jax.org/searchtool/Search.do?query=NUBP2&submit=Quick%0D%2262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUBP2 rs344359 0.822883 0.8595 0.8145 1 0 0 exonic exonic exonic NUBP2 NUBP2 ENSG00000095906 nonsynonymous SNV synonymous SNV unknown NUBP2:NM_001284502:exon6:c.T295C:p.W99R, NUBP2:uc002cmw.4:exon7:c.T741C:p.P247P,NUBP2:uc002cmx.4:exon6:c.T318C:p.P106P, UNKNOWN Het;T>C 1594;60|74 Hom;T>C 3309;0|128 N N - 16 1918125 1918125 T G snp nonsynonymous SNV A52C T18P polar,hydrophilic,neutral hydrophobic,neutral MEIOB Meiob ENSG00000162039 meiosis specific with OB domains chr16:1883984-1934295 Mice homozygous for a knock-out allele exhibit male and female infertility associated with germ cell apoptosis, reduced gonads and impaired meiosis. GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0000724;double-strand break repair via homologous recombination;ISS|GO:0007129;synapsis;ISS|GO:0007140;male meiotic nuclear division;ISS|GO:0007141;male meiosis I;IEA|GO:0007144;female meiosis I;ISS|GO:0009566;fertilization;ISS|GO:0051321;meiotic cell cycle;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IBA GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;ISS|GO:0003697;single-stranded DNA binding;IBA|GO:0004518;nuclease activity;IEA|GO:0004527;exonuclease activity;IEA|GO:0008310;single-stranded DNA 3'-5' exodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MEIOB https://hpo.jax.org/app/browse/search?q=MEIOB&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=MEIOB&submit=Quick%0D%10643ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEIOB rs1742446 0.8125 0.8410 0.8204 0.23 3 13 exonic exonic exonic MEIOB MEIOB ENSG00000162039 nonsynonymous SNV nonsynonymous SNV unknown MEIOB:NM_152764:exon2:c.A52C:p.T18P,MEIOB:NM_001163560:exon2:c.A52C:p.T18P, MEIOB:uc002cne.2:exon2:c.A52C:p.T18P,MEIOB:uc010uvq.1:exon2:c.A52C:p.T18P, UNKNOWN Het;T>G 2165;102|101 Hom;T>G 4562;0|170 N N - 16 23489711 23489711 C G snp nonsynonymous SNV G1270C A424P aliphatic,hydrophobic,neutral hydrophobic,neutral GGA2 Gga2 ENSG00000103365 golgi associated, gamma adaptin ear containing, ARF binding protein 2 chr16:23474863-23533316 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008] Mice homozygous for a gene trapped allele exhibit complete embryonic lethality. Mice homozygous for a different gene trapped allele show decreased birth weight, hypoglycemia and partial neonatal lethality, with all remaining mice dying within the first three weeks of life. Amyloid fiber formation GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;NAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0061024;membrane organization;TAS GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030136;clathrin-coated vesicle;IDA|GO:0031901;early endosome membrane;TAS GO:0005515;protein binding;IPI|GO:0030306;ADP-ribosylation factor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GGA2 https://www.uniprot.org/uniprot/Q9UJY4 https://www.ncbi.nlm.nih.gov/omim/?term=606005 http://www.informatics.jax.org/searchtool/Search.do?query=GGA2&submit=Quick%0D%3016ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGA2 rs1135045 0.676318 0.7300 0.7564 0.08 1 13 exonic exonic exonic GGA2 GGA2 ENSG00000103365 nonsynonymous SNV nonsynonymous SNV unknown GGA2:NM_015044:exon13:c.G1270C:p.A424P, GGA2:uc002dlq.3:exon13:c.G1270C:p.A424P, UNKNOWN Het;C>G 1576;71|72 Hom;C>G 2872;0|104 N N - 16 24888646 24888646 T C snp nonsynonymous SNV T353C V118A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLC5A11 Slc5a11 ENSG00000158865 solute carrier family 5 member 11 chr16:24857162-24922949 Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008] longevity; Tobacco Use Disorder; Lupus Erythematosus, Systemic Inositol transporters GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006915;apoptotic process;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015791;polyol transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;IBA|GO:0015166;polyol transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC5A11 https://www.ncbi.nlm.nih.gov/omim/?term=610238 http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A11&submit=Quick%0D%10265ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A11 rs11074656 0.178914 0.2994 0.2898 0.31 4 13 exonic exonic exonic SLC5A11 SLC5A11 ENSG00000158865 nonsynonymous SNV nonsynonymous SNV unknown SLC5A11:NM_001258413:exon7:c.T353C:p.V118A,SLC5A11:NM_001258412:exon6:c.T335C:p.V112A,SLC5A11:NM_052944:exon7:c.T545C:p.V182A,SLC5A11:NM_001258411:exon7:c.T440C:p.V147A,SLC5A11:NM_001258414:exon7:c.T353C:p.V118A, SLC5A11:uc010vcd.3:exon7:c.T440C:p.V147A,SLC5A11:uc002dmu.4:exon7:c.T545C:p.V182A,SLC5A11:uc002dmt.4:exon7:c.T353C:p.V118A,SLC5A11:uc002dms.4:exon7:c.T353C:p.V118A,SLC5A11:uc010bxt.4:exon9:c.T353C:p.V118A,SLC5A11:uc010vce.3:exon6:c.T335C:p.V112A, UNKNOWN Het;T>C 813;46|42 Hom;T>C 2400;2|86 N N - 16 2821573 2821573 C T snp nonsynonymous SNV G386A S129N polar,hydrophilic,neutral polar,hydrophilic,neutral TCEB2 rs8017 0.413738 0.4495 0.4820 0.09 1 11 exonic exonic exonic TCEB2 TCEB2 ENSG00000103363 nonsynonymous SNV nonsynonymous SNV unknown TCEB2:NM_207013:exon5:c.G386A:p.S129N, TCEB2:uc002crm.3:exon5:c.G386A:p.S129N, UNKNOWN Het;C>T 559;33|28 Hom;C>T 1970;0|74 N N - 16 29908433 29908433 C G snp nonsynonymous SNV G89C R30P polar,hydrophilic,charged(+) hydrophobic,neutral SEZ6L2 Sez6l2 ENSG00000174938 seizure related 6 homolog like 2 chr16:29882480-29910868 This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] Anthropometric traits; Autism; Waist Circumference; Body Weight Mice homozygous for a knock-out allele exhibit no apparent defects. GO:0008344;adult locomotory behavior;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0060074;synapse maturation;IEA|GO:0090036;regulation of protein kinase C signaling;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEZ6L2 https://www.ncbi.nlm.nih.gov/omim/?term=616667 http://www.informatics.jax.org/searchtool/Search.do?query=SEZ6L2&submit=Quick%0D%13603ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEZ6L2 rs11649499 0.750998 0.8806 0.7865 0.08 1 13 exonic exonic exonic SEZ6L2 SEZ6L2 ENSG00000174938 nonsynonymous SNV nonsynonymous SNV unknown SEZ6L2:NM_001243333:exon2:c.G89C:p.R30P,SEZ6L2:NM_001114100:exon3:c.G221C:p.R74P,SEZ6L2:NM_001243332:exon3:c.G221C:p.R74P,SEZ6L2:NM_201575:exon3:c.G221C:p.R74P, SEZ6L2:uc010vec.2:exon3:c.G221C:p.R74P,SEZ6L2:uc002duq.4:exon3:c.G221C:p.R74P,SEZ6L2:uc002dus.4:exon3:c.G221C:p.R74P,SEZ6L2:uc010ved.2:exon2:c.G89C:p.R30P, UNKNOWN Het;C>G 884;50|43 Hom;C>G 2312;1|83 N N - 16 333017 333017 G T snp UTR5;UTR3 -153G>T PDIA2 Pdia2 ENSG00000185615 protein disulfide isomerase family A member 2 chr16:333152-337215 Protein disulfide isomerases (EC 5.3.4.1), such as PDIP, are endoplasmic reticulum (ER) resident proteins that catalyze protein folding and thiol-disulfide interchange reactions (Desilva et al., 1996 [PubMed 8561901]).[supplied by OMIM, Mar 2008] Type 2 Diabetes| edema | rosiglitazone; Congenital Heart Defects|Heart Defects, Congenital GO:0006457;protein folding;TAS|GO:0006621;protein retention in ER lumen;TAS|GO:0019511;peptidyl-proline hydroxylation;IEA|GO:0034975;protein folding in endoplasmic reticulum;TAS|GO:0034976;response to endoplasmic reticulum stress;IBA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1902175;regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;IBA GO:0005623;cell;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0005788;endoplasmic reticulum lumen;IEA GO:0003756;protein disulfide isomerase activity;TAS|GO:0005496;steroid binding;IEA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015036;disulfide oxidoreductase activity;TAS|GO:0015037;peptide disulfide oxidoreductase activity;IDA|GO:0016853;isomerase activity;IEA|GO:0031545;peptidyl-proline 4-dioxygenase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PDIA2 https://www.ncbi.nlm.nih.gov/omim/?term=608012 http://www.informatics.jax.org/searchtool/Search.do?query=PDIA2&submit=Quick%0D%15447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDIA2 rs440401 0.446685 0 0 1 0 0 upstream;downstream UTR5;UTR3 upstream;downstream PDIA2;ARHGDIG PDIA2(uc002cgn.1:c.-153G>T,uc002cgo.1:c.-153G>T,uc010bqt.1:c.-1701G>T);ARHGDIG(uc002cgm.1:c.*203G>T) ENSG00000185615;ENSG00000242173 Na Na Na Na Na Na Het;G>T 79;3|3 Hom;G>T 107;0|3 N N - 16 69782855 69782855 C T snp nonsynonymous SNV G692A R231Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral NOB1 Nob1 ENSG00000141101 NIN1/PSMD8 binding protein 1 homolog chr16:69775770-69788843 In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010] Major pathway of rRNA processing in the nucleolus and cytosol GO:0000469;cleavage involved in rRNA processing;IBA|GO:0006364;rRNA processing;TAS|GO:0007601;visual perception;IEA|GO:0030490;maturation of SSU-rRNA;IBA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0030688;preribosome, small subunit precursor;IBA GO:0004521;endoribonuclease activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NOB1 https://www.uniprot.org/uniprot/Q9ULX3 https://www.ncbi.nlm.nih.gov/omim/?term=613586 http://www.informatics.jax.org/searchtool/Search.do?query=NOB1&submit=Quick%0D%8123ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NOB1 rs3811348 0.34385 0.4384 0.5178 0.08 1 13 exonic exonic exonic NOB1 NOB1 ENSG00000141101 nonsynonymous SNV nonsynonymous SNV unknown NOB1:NM_014062:exon6:c.G692A:p.R231Q, NOB1:uc002exs.4:exon6:c.G692A:p.R231Q,NOB1:uc031qwt.1:exon5:c.G512A:p.R171Q, UNKNOWN Het;C>T 855;83|49 Hom;C>T 3602;1|131 N N - 16 70972595 70972595 T C snp nonsynonymous SNV A6917G E2306G polar,hydrophilic,charged(-) aliphatic,neutral HYDIN Hydin ENSG00000283022 HYDIN, axonemal central pair apparatus protein chr16:70841281-71264625 This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013] Tobacco Use Disorder Mice homozygous for a mutation in this gene develop hydrocephaly after birth. Symptoms develop after 3-5 days. Affected animals usually die before 2 months of age. GO:0003341;cilium movement;IEA GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA http://www.genecards.org/index.php?path=/Search/keyword/HYDIN https://hpo.jax.org/app/browse/search?q=HYDIN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610812 http://www.informatics.jax.org/searchtool/Search.do?query=HYDIN&submit=Quick%0D%22672ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HYDIN rs2502726 0.453874 0 0.6164 0.67 8 12 exonic exonic exonic HYDIN HYDIN ENSG00000157423 nonsynonymous SNV nonsynonymous SNV unknown HYDIN:NM_001270974:exon44:c.A6917G:p.E2306G, HYDIN:uc031qwy.1:exon44:c.A6917G:p.E2306G, UNKNOWN Het;T>C 1110;39|54 Hom;T>C 2248;0|80 N N - 16 71981414 71981414 C CTTTG indel frameshift substitution 3693_3693delinsCAAAG PKD1L3 Pkd1l3 ENSG00000277481 polycystin 1 like 3, transient receptor potential channel interacting chr16:71963441-72033877 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function. GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3 https://www.ncbi.nlm.nih.gov/omim/?term=607895 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3 rs149635567 0 0.6807 0.7818 1 0 0 exonic exonic ncRNA_exonic;splicing PKD1L3 PKD1L3 ENSG00000187008;ENSG00000187008(ENST00000335106:exon23:c.3693+2G>CAAAG,ENST00000335106:exon23:c.3694-1G>CAAAG) unknown frameshift substitution Na UNKNOWN PKD1L3:uc010vmm.2:exon23:c.3693_3693delinsCAAAG, Na Het;+TTTG 256;25|9 Hom;+TTTG 2258;0|50 N N - 16 71988106 71988106 C T snp nonsynonymous SNV G2707A V903I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PKD1L3 Pkd1l3 ENSG00000277481 polycystin 1 like 3, transient receptor potential channel interacting chr16:71963441-72033877 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function. GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3 https://www.ncbi.nlm.nih.gov/omim/?term=607895 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3 rs9921412 0.787141 0.6989 0.7814 0.80 4 5 exonic exonic ncRNA_exonic PKD1L3 PKD1L3 ENSG00000187008 unknown nonsynonymous SNV Na UNKNOWN PKD1L3:uc010vmm.2:exon17:c.G2707A:p.V903I, Na Het;C>T 846;79|43 Hom;C>T 2679;0|103 N N - 16 72007399 72007399 C T snp nonsynonymous SNV G1777A V593M aliphatic,hydrophobic,neutral hydrophobic,neutral PKD1L3 Pkd1l3 ENSG00000277481 polycystin 1 like 3, transient receptor potential channel interacting chr16:71963441-72033877 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function. GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3 https://www.ncbi.nlm.nih.gov/omim/?term=607895 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3 rs9925415 0.514377 0.5753 0.5161 1.00 5 5 exonic exonic ncRNA_exonic PKD1L3 PKD1L3 ENSG00000187008 unknown nonsynonymous SNV Na UNKNOWN PKD1L3:uc010vmm.2:exon12:c.G1777A:p.V593M, Na Het;C>T 842;57|42 Hom;C>T 2334;0|86 N N - 16 72011181 72011181 G T snp nonsynonymous SNV C1713A H571Q aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral PKD1L3 Pkd1l3 ENSG00000277481 polycystin 1 like 3, transient receptor potential channel interacting chr16:71963441-72033877 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function. GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3 https://www.ncbi.nlm.nih.gov/omim/?term=607895 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3 rs1559401 0.755192 0.7749 0.8071 0.40 2 5 exonic exonic ncRNA_exonic PKD1L3 PKD1L3 ENSG00000187008 unknown nonsynonymous SNV Na UNKNOWN PKD1L3:uc010vmm.2:exon11:c.C1713A:p.H571Q, Na Het;G>T 766;78|43 Hom;G>T 2748;0|62 N N - 16 72013797 72013797 G C snp nonsynonymous SNV C1286G T429S polar,hydrophilic,neutral polar,hydrophilic,neutral PKD1L3 Pkd1l3 ENSG00000277481 polycystin 1 like 3, transient receptor potential channel interacting chr16:71963441-72033877 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function. GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3 https://www.ncbi.nlm.nih.gov/omim/?term=607895 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3 rs7185272 0.755192 0.7746 0.8077 0.60 3 5 exonic exonic ncRNA_exonic PKD1L3 PKD1L3 ENSG00000187008 unknown nonsynonymous SNV Na UNKNOWN PKD1L3:uc010vmm.2:exon9:c.C1286G:p.T429S, Na Het;G>C 1086;44|47 Hom;G>C 2192;0|77 N N - 16 72020134 72020134 T C snp nonsynonymous SNV A820G K274E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) PKD1L3 Pkd1l3 ENSG00000277481 polycystin 1 like 3, transient receptor potential channel interacting chr16:71963441-72033877 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function. GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3 https://www.ncbi.nlm.nih.gov/omim/?term=607895 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3 rs12708923 0.513179 0.5701 0.5134 0.20 1 5 exonic exonic ncRNA_exonic PKD1L3 PKD1L3 ENSG00000187008 unknown nonsynonymous SNV Na UNKNOWN PKD1L3:uc010vmm.2:exon5:c.A820G:p.K274E, Na Het;T>C 635;29|29 Hom;T>C 1119;0|39 N N - 16 72020323 72020323 A G snp nonsynonymous SNV T631C S211P polar,hydrophilic,neutral hydrophobic,neutral PKD1L3 Pkd1l3 ENSG00000277481 polycystin 1 like 3, transient receptor potential channel interacting chr16:71963441-72033877 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] Attention Deficit and Disruptive Behavior Disorders; Attention deficit hyperactivity disorder and conduct disorder; Tobacco Use Disorder Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function. GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;ISS|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;ISS GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034703;cation channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0070062;extracellular exosome;IDA GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0030246;carbohydrate binding;IEA|GO:0033040;sour taste receptor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/PKD1L3 https://www.ncbi.nlm.nih.gov/omim/?term=607895 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L3&submit=Quick%0D%21842ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L3 rs4788591 0.775359 0.7926 0.8131 0.00 0 5 exonic exonic ncRNA_exonic PKD1L3 PKD1L3 ENSG00000187008 unknown nonsynonymous SNV Na UNKNOWN PKD1L3:uc010vmm.2:exon5:c.T631C:p.S211P, Na Het;A>G 968;46|43 Hom;A>G 2072;0|73 N N - 16 72042682 72042682 A C snp nonsynonymous SNV A19C K7Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral DHODH Dhodh ENSG00000102967 dihydroorotate dehydrogenase (quinone) chr16:72042487-72058954 The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Attention deficit hyperactivity disorder and conduct disorder; Arthritis, Rheumatoid Pyrimidine biosynthesis GO:0006207;'de novo' pyrimidine nucleobase biosynthetic process;IEA|GO:0006221;pyrimidine nucleotide biosynthetic process;IEA|GO:0007565;female pregnancy;IEA|GO:0007595;lactation;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0031000;response to caffeine;IEA|GO:0042493;response to drug;IEA|GO:0042594;response to starvation;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0044205;'de novo' UMP biosynthetic process;IEA|GO:0046134;pyrimidine nucleoside biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0090140;regulation of mitochondrial fission;IEA|GO:1903576;response to L-arginine;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA GO:0003824;catalytic activity;IEA|GO:0004152;dihydroorotate dehydrogenase activity;IEA|GO:0008144;drug binding;IEA|GO:0010181;FMN binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0048039;ubiquinone binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DHODH https://www.uniprot.org/uniprot/Q02127 https://hpo.jax.org/app/browse/search?q=DHODH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126064 http://www.informatics.jax.org/searchtool/Search.do?query=DHODH&submit=Quick%0D%2940ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DHODH rs3213422 0.564097 0.5446 0.5190 0.23 3 13 exonic exonic exonic DHODH DHODH ENSG00000102967 nonsynonymous SNV nonsynonymous SNV unknown DHODH:NM_001361:exon1:c.A19C:p.K7Q, DHODH:uc002fbp.3:exon1:c.A19C:p.K7Q, UNKNOWN Het;A>C 1121;51|52 Hom;A>C 2907;0|112 N N - 16 74695079 74695079 G T snp nonsynonymous SNV C269A T90N polar,hydrophilic,neutral polar,hydrophilic,neutral RFWD3 Rfwd3 ENSG00000168411 ring finger and WD repeat domain 3 chr16:74655292-74700779 high-density lipoprotein cholesterol Mice homozygous for a knock-out allele exhibit female and male fertility (possibly infertility), gonad atrophy, oligospermia, failure of follicular development, increased cellular sensitivity to MMC treatment, and premature death. GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010212;response to ionizing radiation;IDA|GO:0016567;protein ubiquitination;IDA|GO:0031571;mitotic G1 DNA damage checkpoint;IMP|GO:2000001;regulation of DNA damage checkpoint;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA|GO:0035861;site of double-strand break;IDA GO:0002039;p53 binding;IPI|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0097371;MDM2/MDM4 family protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RFWD3 https://hpo.jax.org/app/browse/search?q=RFWD3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614151 http://www.informatics.jax.org/searchtool/Search.do?query=RFWD3&submit=Quick%0D%12263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFWD3 rs8058922 0.788139 0.7247 0.7139 0.08 1 13 exonic exonic exonic RFWD3 RFWD3 ENSG00000168411 nonsynonymous SNV nonsynonymous SNV unknown RFWD3:NM_018124:exon2:c.C269A:p.T90N, RFWD3:uc010cgq.3:exon3:c.C269A:p.T90N,RFWD3:uc002fda.3:exon2:c.C269A:p.T90N, UNKNOWN Het;G>T 1879;85|87 Hom;G>T 4147;0|152 N N - 16 77328990 77328990 C A snp nonsynonymous SNV G2836T A946S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ADAMTS18 Adamts18 ENSG00000140873 ADAM metallopeptidase with thrombospondin type 1 motif 18 chr16:77281710-77469011 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016] breast cancer ; Waist-Hip Ratio; Bone Density; Hip Fractures|Osteoporosis; Coronary Artery Disease; Body Mass Index; Brain Mapping; Triglycerides; Magnesium; Hip; high-density lipoprotein cholesterol ; Bone Mineral Density; Tobacco Use Disorder Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors. O-glycosylation of TSR domain-containing proteins GO:0001654;eye development;IMP|GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0090331;negative regulation of platelet aggregation;IDA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IEA GO:0004222;metalloendopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS18 https://www.uniprot.org/uniprot/Q8TE60 https://hpo.jax.org/app/browse/search?q=ADAMTS18&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607512 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS18&submit=Quick%0D%8086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS18 rs12935394 0.114018 0.0939 0.1312 0.15 2 13 exonic exonic exonic ADAMTS18 ADAMTS18 ENSG00000140873 nonsynonymous SNV nonsynonymous SNV unknown ADAMTS18:NM_199355:exon19:c.G2836T:p.A946S, ADAMTS18:uc002ffc.4:exon19:c.G2836T:p.A946S,ADAMTS18:uc010chc.1:exon14:c.G1600T:p.A534S, UNKNOWN Het;C>A 566;53|31 Hom;C>A 2073;0|77 N N - 16 81061827 81061827 G A snp nonsynonymous SNV G862A E288K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) CENPN Cenpn ENSG00000166451 centromere protein N chr16:81040103-81066719 The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] smoking cessation Mitotic Prometaphase GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0034508;centromere complex assembly;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS http://www.genecards.org/index.php?path=/Search/keyword/CENPN https://www.ncbi.nlm.nih.gov/omim/?term=611509 http://www.informatics.jax.org/searchtool/Search.do?query=CENPN&submit=Quick%0D%11797ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPN rs2549887 0.597244 0.6696 0.7104 0.08 1 13 exonic exonic exonic CENPN CENPN ENSG00000166451 nonsynonymous SNV nonsynonymous SNV unknown CENPN:NM_001100624:exon10:c.G862A:p.E288K,CENPN:NM_001100625:exon10:c.G862A:p.E288K,CENPN:NM_001270474:exon9:c.G760A:p.E254K,CENPN:NM_001270473:exon9:c.G802A:p.E268K, CENPN:uc002ffy.4:exon10:c.G862A:p.E288K,CENPN:uc002ffx.2:exon10:c.G862A:p.E288K,CENPN:uc010vnm.1:exon9:c.G802A:p.E268K,CENPN:uc010vnl.1:exon9:c.G760A:p.E254K, UNKNOWN Het;G>A 1467;94|76 Hom;G>A 3293;0|124 N N - 16 81208515 81208515 G A snp nonsynonymous SNV C533T A178V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PKD1L2 Pkd1l2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 rs12596941 0.202276 0.1673 0.2460 0.09 1 11 exonic exonic exonic PKD1L2 PKD1L2 ENSG00000166473 nonsynonymous SNV nonsynonymous SNV unknown PKD1L2:NM_001278423:exon5:c.C533T:p.A178V,PKD1L2:NM_001076780:exon16:c.C2588T:p.A863V, PKD1L2:uc002fgj.3:exon16:c.C2588T:p.A863V,PKD1L2:uc002fgl.1:exon4:c.C356T:p.A119V,PKD1L2:uc002fgi.3:exon5:c.C533T:p.A178V,PKD1L2:uc002fgk.1:exon3:c.C14T:p.A5V, UNKNOWN Het;G>A 421;41|23 Hom;G>A 1199;0|45 N N - 16 84228199 84228199 G T snp nonsynonymous SNV C164A S55Y polar,hydrophilic,neutral aromatic,polar,hydrophobic AK123582 rs11864937 0.279952 0.3403 0.2914 1 0 0 intronic exonic ncRNA_exonic ADAD2 AK123582 ENSG00000250685 Na nonsynonymous SNV Na Na AK123582:uc002fhs.1:exon4:c.C164A:p.S55Y, Na Het;G>T 913;60|49 Hom;G>T 2011;0|80 N N - 16 84228305 84228305 C G snp nonsynonymous SNV G58C V20L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AK123582 rs11864916 0.29393 0 0.2846 1 0 0 intronic exonic ncRNA_exonic ADAD2 AK123582 ENSG00000250685 Na nonsynonymous SNV Na Na AK123582:uc002fhs.1:exon4:c.G58C:p.V20L, Na Het;C>G 104;8|4 Hom;C>G 567;0|16 N N - 16 84228770 84228770 G C snp nonsynonymous SNV G703C G235R aliphatic,neutral polar,hydrophilic,charged(+) ADAD2 Adad2 ENSG00000140955 adenosine deaminase domain containing 2 chr16:84224744-84230774 Iron GO:0006396;RNA processing;IEA GO:0003723;RNA binding;IEA|GO:0004000;adenosine deaminase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAD2 https://www.uniprot.org/uniprot/Q8NCV1 http://www.informatics.jax.org/searchtool/Search.do?query=ADAD2&submit=Quick%0D%8097ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAD2 rs11149631 0.276158 0.3383 0.2603 0.15 2 13 exonic exonic exonic ADAD2 ADAD2 ENSG00000140955 nonsynonymous SNV nonsynonymous SNV unknown ADAD2:NM_001145400:exon4:c.G703C:p.G235R,ADAD2:NM_139174:exon5:c.G919C:p.G307R, ADAD2:uc002fhr.2:exon4:c.G703C:p.G235R,ADAD2:uc002fhq.2:exon5:c.G919C:p.G307R, UNKNOWN Het;G>C 1000;52|49 Hom;G>C 2627;0|97 N N - 16 90110027 90110027 G A snp nonsynonymous SNV C479T P160L hydrophobic,neutral aliphatic,hydrophobic,neutral LOC100130015 rs3743824 0.578075 0 0.4783 1 0 0 ncRNA_exonic exonic ncRNA_exonic URAHP LOC100130015 ENSG00000222019 Na nonsynonymous SNV Na Na LOC100130015:uc010cjd.3:exon4:c.C479T:p.P160L, Na Het;G>A 1813;63|76 Hom;G>A 3665;0|128 N N - 16 90110289 90110289 C A snp nonsynonymous SNV G217T V73F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral LOC100130015 rs1048148 0.58127 0 0.4339 1 0 0 ncRNA_exonic exonic ncRNA_exonic URAHP LOC100130015 ENSG00000222019 Na nonsynonymous SNV Na Na LOC100130015:uc002fql.3:exon4:c.G217T:p.V73F,LOC100130015:uc010cjd.3:exon4:c.G217T:p.V73F, Na Het;C>A 1082;58|54 Hom;C>A 3186;0|90 N N - 17 10297658 10297658 A G snp nonsynonymous SNV T5074C W1692R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) MYH8 Myh8 ENSG00000133020 myosin heavy chain 8 chr17:10293639-10325267 Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009] Type 2 Diabetes| edema | rosiglitazone; Clubfoot Striated Muscle Contraction GO:0003009;skeletal muscle contraction;IMP|GO:0006470;protein dephosphorylation;IEA|GO:0006936;muscle contraction;NAS|GO:0030049;muscle filament sliding;TAS|GO:0046034;ATP metabolic process;IMP GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;NAS|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IC|GO:0032982;myosin filament;IC GO:0000146;microfilament motor activity;IMP|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IMP|GO:0008307;structural constituent of muscle;NAS|GO:0016887;ATPase activity;IMP|GO:0017018;myosin phosphatase activity;TAS|GO:0032027;myosin light chain binding;TAS|GO:0051015;actin filament binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/MYH8 https://www.uniprot.org/uniprot/P13535 https://hpo.jax.org/app/browse/search?q=MYH8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=160741 http://www.informatics.jax.org/searchtool/Search.do?query=MYH8&submit=Quick%0D%6778ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH8 rs8069834 0.485423 0.6297 0.5096 0.08 1 13 exonic exonic exonic MYH8 MYH8 ENSG00000133020 nonsynonymous SNV nonsynonymous SNV unknown MYH8:NM_002472:exon35:c.T5074C:p.W1692R, MYH8:uc002gmm.2:exon35:c.T5074C:p.W1692R, UNKNOWN Het;A>G 452;17|20 Hom;A>G 1071;1|39 N N - 17 10705806 10705806 G C snp nonsynonymous SNV G178C V60L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TMEM220-AS1 rs4792034 0.888778 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic TMEM220-AS1 TMEM220-AS1 ENSG00000263400 Na nonsynonymous SNV Na Na TMEM220-AS1:uc031qzb.1:exon2:c.G178C:p.V60L, Na Het;G>C 1599;93|75 Hom;G>C 4641;0|168 N N - 17 17124815 17124815 C T snp nonsynonymous SNV G907A G303R aliphatic,neutral polar,hydrophilic,charged(+) FLCN Flcn ENSG00000154803 folliculin chr17:17115526-17140502 This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Cysts|Pneumothorax|Syndrome; Pulmonary Disease, Chronic Obstructive Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;ISS|GO:0001932;regulation of protein phosphorylation;IDA|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0007043;cell-cell junction assembly;ISS|GO:0010508;positive regulation of autophagy;IMP|GO:0010629;negative regulation of gene expression;ISS|GO:0010823;negative regulation of mitochondrion organization;ISS|GO:0030097;hemopoiesis;ISS|GO:0030308;negative regulation of cell growth;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0031929;TOR signaling;IMP|GO:0032006;regulation of TOR signaling;ISS|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032008;positive regulation of TOR signaling;ISS|GO:0032465;regulation of cytokinesis;IMP|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035065;regulation of histone acetylation;ISS|GO:0043065;positive regulation of apoptotic process;ISS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051898;negative regulation of protein kinase B signaling;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1900181;negative regulation of protein localization to nucleus;IDA|GO:1901723;negative regulation of cell proliferation involved in kidney development;ISS|GO:2000506;negative regulation of energy homeostasis;ISS|GO:2000973;regulation of pro-B cell differentiation;ISS|GO:2001170;negative regulation of ATP biosynthetic process;ISS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;TAS|GO:0030496;midbody;IDA|GO:0044291;cell-cell contact zone;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/FLCN https://www.uniprot.org/uniprot/Q8NFG4 https://hpo.jax.org/app/browse/search?q=FLCN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607273 http://www.informatics.jax.org/searchtool/Search.do?query=FLCN&submit=Quick%0D%9809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FLCN rs3744124 0.0996406 0.0775 0.0725 0.18 2 11 exonic exonic exonic FLCN FLCN ENSG00000154803 nonsynonymous SNV nonsynonymous SNV unknown FLCN:NM_144606:exon8:c.G907A:p.G303R, FLCN:uc002grb.4:exon8:c.G907A:p.G303R, UNKNOWN Het;C>T 2432;137|117 Hom;C>T 7103;2|263 N N - 17 18874685 18874685 C CGGT indel nonframeshift substitution 2459_2459delinsACCG FAM83G Fam83g ENSG00000188522 family with sequence similarity 83 member G chr17:18872102-18908117 Mutations at this locus result in curly hair. GO:0030509;BMP signaling pathway;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM83G https://www.ncbi.nlm.nih.gov/omim/?term=615886 http://www.informatics.jax.org/searchtool/Search.do?query=FAM83G&submit=Quick%0D%16048ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM83G rs3071666 0.651757 0.5954 0.6077 1 0 0 exonic exonic exonic FAM83G FAM83G ENSG00000188522 nonframeshift substitution nonframeshift substitution unknown FAM83G:NM_001039999:exon6:c.2459_2459delinsACCG, FAM83G:uc002guw.3:exon6:c.2459_2459delinsACCG, UNKNOWN Het;+GGT 925;30|21 Hom;+GGT 2622;0|56 N N - 17 28296327 28296327 T G snp nonsynonymous SNV T541G L181V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral EFCAB5 Efcab5 ENSG00000176927 EF-hand calcium binding domain 5 chr17:28256218-28435470 GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFCAB5 http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB5&submit=Quick%0D%13939ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB5 rs9897794 0.542332 0.4691 0.5288 0.23 3 13 exonic exonic exonic EFCAB5 EFCAB5 ENSG00000176927 nonsynonymous SNV nonsynonymous SNV unknown EFCAB5:NM_001145053:exon4:c.T541G:p.L181V,EFCAB5:NM_198529:exon4:c.T709G:p.L237V, EFCAB5:uc002het.3:exon4:c.T709G:p.L237V,EFCAB5:uc010csf.3:exon1:c.T346G:p.L116V,EFCAB5:uc010cse.3:exon1:c.T346G:p.L116V,EFCAB5:uc010wbj.2:exon4:c.T541G:p.L181V, UNKNOWN Het;T>G 806;30|36 Hom;T>G 2042;0|68 N N - 17 30222002 30222002 T C snp nonsynonymous SNV A206G Q69R polar,hydrophilic,neutral polar,hydrophilic,charged(+) UTP6 Utp6 ENSG00000108651 UTP6, small subunit processome component chr17:30187923-30228784 Fibrinogen Major pathway of rRNA processing in the nucleolus and cytosol GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0006396;RNA processing;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0032040;small-subunit processome;IBA|GO:0034388;Pwp2p-containing subcomplex of 90S preribosome;IBA GO:0030515;snoRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/UTP6 https://www.uniprot.org/uniprot/Q9NYH9 http://www.informatics.jax.org/searchtool/Search.do?query=UTP6&submit=Quick%0D%3750ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UTP6 rs3760454 0.355431 0.3309 0.4413 0.38 5 13 exonic exonic exonic UTP6 UTP6 ENSG00000108651 nonsynonymous SNV nonsynonymous SNV unknown UTP6:NM_018428:exon3:c.A206G:p.Q69R, UTP6:uc010wbw.1:exon3:c.A206G:p.Q69R,UTP6:uc002hgr.3:exon3:c.A206G:p.Q69R, UNKNOWN Het;T>C 610;30|33 Hom;T>C 1188;0|47 N N - 17 32904586 32904586 C T snp nonsynonymous SNV G464A R155K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) C17orf102 rs887230 0.796526 0.8575 0.8248 1 0 0 exonic exonic exonic C17orf102 C17orf102 ENSG00000197322 nonsynonymous SNV nonsynonymous SNV unknown C17orf102:NM_207454:exon2:c.G464A:p.R155K, C17orf102:uc002hie.1:exon2:c.G464A:p.R155K, UNKNOWN Het;C>T 844;75|49 Hom;C>T 2490;0|95 N N - 17 33749546 33749546 A G snp nonsynonymous SNV T502C C168R polar,hydrophobic,neutral polar,hydrophilic,charged(+) SLFN12 Slfn3 ENSG00000172123 schlafen family member 12 chr17:33738079-33760302 GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLFN12 https://www.ncbi.nlm.nih.gov/omim/?term=614955 http://www.informatics.jax.org/searchtool/Search.do?query=SLFN12&submit=Quick%0D%13086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN12 rs2586514 0.589856 0.6080 0.6029 0.08 1 12 exonic exonic exonic SLFN12 SLFN12 ENSG00000172123 nonsynonymous SNV nonsynonymous SNV unknown SLFN12:NM_001289009:exon2:c.T502C:p.C168R,SLFN12:NM_018042:exon2:c.T502C:p.C168R, SLFN12:uc002hjj.4:exon4:c.T502C:p.C168R,SLFN12:uc002hji.4:exon2:c.T502C:p.C168R,SLFN12:uc010cts.3:exon2:c.T502C:p.C168R, UNKNOWN Het;A>G 806;61|39 Hom;A>G 3133;0|104 N N - 17 33749919 33749919 A C snp nonsynonymous SNV T129G S43R polar,hydrophilic,neutral polar,hydrophilic,charged(+) SLFN12 Slfn3 ENSG00000172123 schlafen family member 12 chr17:33738079-33760302 GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLFN12 https://www.ncbi.nlm.nih.gov/omim/?term=614955 http://www.informatics.jax.org/searchtool/Search.do?query=SLFN12&submit=Quick%0D%13086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLFN12 rs1849733 0.376198 0.4336 0.4524 0.08 1 12 exonic exonic exonic SLFN12 SLFN12 ENSG00000172123 nonsynonymous SNV nonsynonymous SNV unknown SLFN12:NM_001289009:exon2:c.T129G:p.S43R,SLFN12:NM_018042:exon2:c.T129G:p.S43R, SLFN12:uc002hjj.4:exon4:c.T129G:p.S43R,SLFN12:uc002hji.4:exon2:c.T129G:p.S43R,SLFN12:uc010cts.3:exon2:c.T129G:p.S43R, UNKNOWN Het;A>C 1741;96|80 Hom;A>C 4856;0|180 N N - 17 3493200 3493200 C G snp nonsynonymous SNV G945C M315I hydrophobic,neutral aliphatic,hydrophobic,neutral TRPV1 Trpv1 ENSG00000196689 transient receptor potential cation channel subfamily V member 1 chr17:3468738-3500392 Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; null; Autism; asthma; C-Reactive Protein; Obesity Homozygous mutant mice demonstrate abnormal nociception, abnormal anxiety- and conditioning-related behaviors, increased sensitivity to DOCA-salt-induced renal damage, resistance to diet-induced obesity, altered taste sensitivity, and impaired febrile response. TRP channels GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001659;temperature homeostasis;IEA|GO:0001660;fever generation;IEA|GO:0001774;microglial cell activation;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0002790;peptide secretion;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006954;inflammatory response;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0007635;chemosensory behavior;TAS|GO:0009268;response to pH;IEA|GO:0009408;response to heat;IEA|GO:0010243;response to organonitrogen compound;IEA|GO:0014047;glutamate secretion;IEA|GO:0014832;urinary bladder smooth muscle contraction;IEA|GO:0019233;sensory perception of pain;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034605;cellular response to heat;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043434;response to peptide hormone;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0048265;response to pain;IEA|GO:0048266;behavioral response to pain;IEA|GO:0050954;sensory perception of mechanical stimulus;IEA|GO:0050955;thermoception;IDA|GO:0050960;detection of temperature stimulus involved in thermoception;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0050968;detection of chemical stimulus involved in sensory perception of pain;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0051289;protein homotetramerization;ISS|GO:0055085;transmembrane transport;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060083;smooth muscle contraction involved in micturition;IEA|GO:0060454;positive regulation of gastric acid secretion;IEA|GO:0065009;regulation of molecular function;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0071312;cellular response to alkaloid;ISS|GO:0071318;cellular response to ATP;ISS|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071468;cellular response to acidic pH;IDA|GO:0071502;cellular response to temperature stimulus;IEA|GO:0090212;negative regulation of establishment of blood-brain barrier;IEA|GO:0098703;calcium ion import across plasma membrane;IDA|GO:1901594;response to capsazepine;IMP|GO:1990090;cellular response to nerve growth factor stimulus;IEA GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031226;intrinsic component of plasma membrane;ISS|GO:0032591;dendritic spine membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004888;transmembrane signaling receptor activity;ISS|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IDA|GO:0005231;excitatory extracellular ligand-gated ion channel activity;ISS|GO:0005261;cation channel activity;IEA|GO:0005262;calcium channel activity;TAS|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0008324;cation transmembrane transporter activity;IEA|GO:0015276;ligand-gated ion channel activity;IEA|GO:0015278;calcium-release channel activity;ISS|GO:0017081;chloride channel regulator activity;IEA|GO:0035091;phosphatidylinositol binding;ISS|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051219;phosphoprotein binding;IPI|GO:0097603;temperature-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRPV1 https://www.ncbi.nlm.nih.gov/omim/?term=602076 http://www.informatics.jax.org/searchtool/Search.do?query=TRPV1&submit=Quick%0D%16441ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPV1 rs222747 0.733427 0.8027 0.7525 0.08 1 13 exonic exonic exonic TRPV1 TRPV1 ENSG00000196689,ENSG00000262304 nonsynonymous SNV nonsynonymous SNV unknown TRPV1:NM_080704:exon7:c.G945C:p.M315I,TRPV1:NM_080705:exon6:c.G945C:p.M315I,TRPV1:NM_018727:exon6:c.G945C:p.M315I,TRPV1:NM_080706:exon5:c.G945C:p.M315I, TRPV1:uc010vrp.2:exon5:c.G945C:p.M315I,TRPV1:uc010vrs.2:exon6:c.G945C:p.M315I,TRPV1:uc010vro.2:exon5:c.G945C:p.M315I,TRPV1:uc010vrq.2:exon4:c.G939C:p.M313I,TRPV1:uc010vru.2:exon7:c.G945C:p.M315I,TRPV1:uc010vrr.2:exon5:c.G945C:p.M315I,TRPV1:uc010vrt.2:exon6:c.G945C:p.M315I, UNKNOWN Het;C>G 1082;59|51 Hom;C>G 2034;0|70 N N - 17 3627840 3627840 G A snp nonsynonymous SNV G611A G204D aliphatic,neutral polar,hydrophilic,charged(-) GSG2 Gsg2 ENSG00000177602 histone H3 associated protein kinase chr17:3627211-3630067 Male mice homozygous for a null mutation display disordered germ cells in the testes. GO:0006468;protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0007064;mitotic sister chromatid cohesion;IMP|GO:0016310;phosphorylation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0035556;intracellular signal transduction;IDA|GO:0071459;protein localization to chromosome, centromeric region;IMP|GO:0090231;regulation of spindle checkpoint;IMP|GO:2000751;histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore;IMP GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005819;spindle;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0072354;histone kinase activity (H3-T3 specific);IMP http://www.genecards.org/index.php?path=/Search/keyword/GSG2 https://www.ncbi.nlm.nih.gov/omim/?term=609240 http://www.informatics.jax.org/searchtool/Search.do?query=GSG2&submit=Quick%0D%14055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GSG2 rs220462 0.257788 0.2389 0.3069 0.08 1 13 exonic exonic exonic GSG2 GSG2 ENSG00000177602 nonsynonymous SNV nonsynonymous SNV unknown GSG2:NM_031965:exon1:c.G611A:p.G204D, GSG2:uc002fwp.3:exon1:c.G611A:p.G204D, UNKNOWN Het;G>A 1501;82|77 Hom;G>A 4491;0|165 N N - 17 3628212 3628212 T C snp nonsynonymous SNV T983C I328T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral GSG2 Gsg2 ENSG00000177602 histone H3 associated protein kinase chr17:3627211-3630067 Male mice homozygous for a null mutation display disordered germ cells in the testes. GO:0006468;protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0007064;mitotic sister chromatid cohesion;IMP|GO:0016310;phosphorylation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0035556;intracellular signal transduction;IDA|GO:0071459;protein localization to chromosome, centromeric region;IMP|GO:0090231;regulation of spindle checkpoint;IMP|GO:2000751;histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore;IMP GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005819;spindle;IDA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0072354;histone kinase activity (H3-T3 specific);IMP http://www.genecards.org/index.php?path=/Search/keyword/GSG2 https://www.ncbi.nlm.nih.gov/omim/?term=609240 http://www.informatics.jax.org/searchtool/Search.do?query=GSG2&submit=Quick%0D%14055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GSG2 rs220461 0.253594 0.2347 0.3046 0.08 1 13 exonic exonic exonic GSG2 GSG2 ENSG00000177602 nonsynonymous SNV nonsynonymous SNV unknown GSG2:NM_031965:exon1:c.T983C:p.I328T, GSG2:uc002fwp.3:exon1:c.T983C:p.I328T, UNKNOWN Het;T>C 1631;83|73 Hom;T>C 5040;1|177 N N - 17 3632836 3632836 G A snp nonsynonymous SNV C2848T R950W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral ITGAE Itgae ENSG00000083457 integrin subunit alpha E chr17:3617922-3704537 Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008] Sarcoidosis; Attention Deficit Disorder with Hyperactivity; Graves Ophthalmopathy|Thyroid associated opthalmopathies; Dengue Hemorrhagic Fever; Leukemia, Lymphocytic, Chronic, B-Cell; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Tobacco Use Disorder; Coronary Disease|Coronary heart disease|Myocardial Infarction; ADHD | attention-deficit hyperactivity disorder Homozygotes for a targeted null mutation exhibit reductions in the numbers of intestinal and vaginal intraepithelial lymphocytes and of T lymphocytes of the lamina propria. Integrin cell surface interactions GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0030198;extracellular matrix organization;TAS GO:0005886;plasma membrane;TAS|GO:0008305;integrin complex;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITGAE https://www.uniprot.org/uniprot/P38570 https://www.ncbi.nlm.nih.gov/omim/?term=604682 http://www.informatics.jax.org/searchtool/Search.do?query=ITGAE&submit=Quick%0D%1828ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITGAE rs1716 0.265375 0.2528 0.3172 0.42 5 12 exonic exonic exonic ITGAE ITGAE ENSG00000083457 nonsynonymous SNV nonsynonymous SNV unknown ITGAE:NM_002208:exon24:c.C2848T:p.R950W, ITGAE:uc002fwo.4:exon24:c.C2848T:p.R950W, UNKNOWN Het;G>A 932;39|45 Hom;G>A 2498;0|97 N N - 17 37070658 37070658 A G snp nonsynonymous SNV A71G H24R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) LASP1 Lasp1 ENSG00000002834 LIM and SH3 protein 1 chr17:37026112-37078023 This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012] autism; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit reduced histamine-stimulated gastric acid secretion and enlarged heart and testes on a mixed background. Mice homozygous for a transgene insertion exhibit abnormal tail vertebrae with scoliosis, transient spina bifida occulta, and a bent tail. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0034220;ion transmembrane transport;IEA GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0005938;cell cortex;IEA|GO:0030864;cortical actin cytoskeleton;ISS|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0015075;ion transmembrane transporter activity;ISS|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LASP1 https://www.uniprot.org/uniprot/Q14847 https://www.ncbi.nlm.nih.gov/omim/?term=602920 http://www.informatics.jax.org/searchtool/Search.do?query=LASP1&submit=Quick%0D%296ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LASP1 rs525989 0.676717 0.7265 0.6445 1 0 0 exonic exonic exonic LASP1 LASP1 ENSG00000002834 synonymous SNV nonsynonymous SNV unknown LASP1:NM_001271608:exon4:c.A270G:p.S90S,LASP1:NM_006148:exon5:c.A438G:p.S146S, LASP1:uc010cvq.3:exon6:c.A71G:p.H24R, UNKNOWN Het;A>G 750;89|44 Hom;A>G 2699;0|100 N N - 17 39983808 39983808 G C snp nonsynonymous SNV C638G S213C polar,hydrophilic,neutral polar,hydrophobic,neutral NT5C3B Nt5c3b ENSG00000141698 5'-nucleotidase, cytosolic IIIB chr17:39981335-39992523 mRNA decay by 3' to 5' exoribonuclease GO:0009117;nucleotide metabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008253;5'-nucleotidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NT5C3B https://www.uniprot.org/uniprot/Q969T7 http://www.informatics.jax.org/searchtool/Search.do?query=NT5C3B&submit=Quick%0D%8215ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C3B rs1046404 0.786142 0.7606 0.7770 0.77 10 13 exonic exonic exonic NT5C3B NT5C3B ENSG00000141698 nonsynonymous SNV nonsynonymous SNV unknown NT5C3B:NM_052935:exon8:c.C638G:p.S213C, NT5C3B:uc002hxy.4:exon7:c.C614G:p.S205C,NT5C3B:uc021txo.1:exon8:c.C638G:p.S213C,NT5C3B:uc021txn.1:exon8:c.C614G:p.S205C, UNKNOWN Het;G>C 754;60|38 Hom;G>C 1243;0|46 N N - 17 39983820 39983820 G A snp nonsynonymous SNV C626T A209V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NT5C3B Nt5c3b ENSG00000141698 5'-nucleotidase, cytosolic IIIB chr17:39981335-39992523 mRNA decay by 3' to 5' exoribonuclease GO:0009117;nucleotide metabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008253;5'-nucleotidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NT5C3B https://www.uniprot.org/uniprot/Q969T7 http://www.informatics.jax.org/searchtool/Search.do?query=NT5C3B&submit=Quick%0D%8215ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C3B rs1046403 0.786142 0.7606 0.7770 0.15 2 13 exonic exonic exonic NT5C3B NT5C3B ENSG00000141698 nonsynonymous SNV nonsynonymous SNV unknown NT5C3B:NM_052935:exon8:c.C626T:p.A209V, NT5C3B:uc002hxy.4:exon7:c.C602T:p.A201V,NT5C3B:uc021txo.1:exon8:c.C626T:p.A209V,NT5C3B:uc021txn.1:exon8:c.C602T:p.A201V, UNKNOWN Het;G>A 565;51|31 Hom;G>A 1118;0|41 N N - 17 42855554 42855554 T C snp nonsynonymous SNV T278C L93S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ADAM11 Adam11 ENSG00000073670 ADAM metallopeptidase domain 11 chr17:42836399-42859214 This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] alcohol associated symptoms; alcoholism Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks. LGI-ADAM interactions GO:0006508;proteolysis;IEA|GO:0007229;integrin-mediated signaling pathway;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;ISS GO:0004222;metalloendopeptidase activity;IEA|GO:0005178;integrin binding;TAS|GO:0008237;metallopeptidase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ADAM11 https://www.uniprot.org/uniprot/O75078 https://www.ncbi.nlm.nih.gov/omim/?term=155120 http://www.informatics.jax.org/searchtool/Search.do?query=ADAM11&submit=Quick%0D%1476ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAM11 rs2070605 0.645367 0.5800 0.6433 1 0 0 exonic exonic exonic ADAM11 ADAM11 ENSG00000073670 synonymous SNV nonsynonymous SNV unknown ADAM11:NM_002390:exon25:c.T2220C:p.I740I, ADAM11:uc002ihi.3:exon4:c.T278C:p.L93S, UNKNOWN Het;T>C 1633;67|74 Hom;T>C 3761;0|133 N N - 17 44248848 44248848 G A snp nonsynonymous SNV C662T T221I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral KANSL1 Kansl1 ENSG00000278458 KAT8 regulatory NSL complex subunit 1 chr17:44107282-44302733 This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012] Parkinson Disease; Brain; Parkinson's disease ; Parkinson's disease GO:0000123;histone acetyltransferase complex;IEA http://www.genecards.org/index.php?path=/Search/keyword/KANSL1 https://hpo.jax.org/app/browse/search?q=KANSL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612452 http://www.informatics.jax.org/searchtool/Search.do?query=KANSL1&submit=Quick%0D%22051ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KANSL1 Na 0.0605032 0.1119 0.1230 0.54 7 13 exonic exonic exonic KANSL1 KANSL1 ENSG00000120071 nonsynonymous SNV nonsynonymous SNV unknown KANSL1:NM_001193466:exon2:c.C662T:p.T221I,KANSL1:NM_001193465:exon3:c.C662T:p.T221I,KANSL1:NM_015443:exon2:c.C662T:p.T221I, KANSL1:uc010dav.3:exon3:c.C662T:p.T221I,KANSL1:uc002ikc.3:exon2:c.C662T:p.T221I,KANSL1:uc002ikd.3:exon2:c.C662T:p.T221I, UNKNOWN Het;G>A 1322;167|71 Hom;G>A 2052;0|78 N N - 17 4463023 4463023 G A snp nonsynonymous SNV C173T A58V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GGT6 Ggt6 ENSG00000167741 gamma-glutamyltransferase 6 chr17:4460222-4464113 GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008] Aflatoxin activation and detoxification GO:0006508;proteolysis;IEA|GO:0006749;glutathione metabolic process;IEA|GO:0006750;glutathione biosynthetic process;IEA|GO:0006751;glutathione catabolic process;IEA|GO:0019370;leukotriene biosynthetic process;ISS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031362;anchored component of external side of plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0003840;gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0036374;glutathione hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGT6 https://www.ncbi.nlm.nih.gov/omim/?term=612341 http://www.informatics.jax.org/searchtool/Search.do?query=GGT6&submit=Quick%0D%12097ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGT6 rs11657054 0.755391 0.7433 0.7666 0.62 8 13 exonic exonic exonic GGT6 GGT6 ENSG00000167741 nonsynonymous SNV nonsynonymous SNV unknown GGT6:NM_153338:exon2:c.C173T:p.A58V,GGT6:NM_001122890:exon2:c.C173T:p.A58V,GGT6:NM_001288703:exon2:c.C173T:p.A58V,GGT6:NM_001288704:exon2:c.C173T:p.A58V,GGT6:NM_001288702:exon2:c.C173T:p.A58V, GGT6:uc002fyd.4:exon2:c.C173T:p.A58V,GGT6:uc010vsc.2:exon2:c.C173T:p.A58V,GGT6:uc002fyc.4:exon2:c.C173T:p.A58V, UNKNOWN Het;G>A 738;45|37 Hom;G>A 2216;0|83 N N - 17 4495740 4495740 G A snp nonsynonymous SNV G52A A18T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral SMTNL2 Smtnl2 ENSG00000188176 smoothelin like 2 chr17:4487294-4511614 http://www.genecards.org/index.php?path=/Search/keyword/SMTNL2 http://www.informatics.jax.org/searchtool/Search.do?query=SMTNL2&submit=Quick%0D%15983ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMTNL2 rs12449695 0.331869 0.2463 0.3378 0.08 1 12 exonic exonic exonic SMTNL2 SMTNL2 ENSG00000188176 nonsynonymous SNV nonsynonymous SNV unknown SMTNL2:NM_198501:exon2:c.G52A:p.A18T,SMTNL2:NM_001114974:exon2:c.G484A:p.A162T, SMTNL2:uc002fye.2:exon2:c.G52A:p.A18T,SMTNL2:uc002fyf.1:exon2:c.G484A:p.A162T, UNKNOWN Het;G>A 598;26|31 Hom;G>A 864;0|32 N N - 17 48452776 48452776 A C snp nonsynonymous SNV A207C E69D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) EME1 Eme1 ENSG00000154920 essential meiotic structure-specific endonuclease 1 chr17:48450581-48458844 This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] Chronic renal failure|Kidney Failure, Chronic; multiple sclerosis; breast cancer; Brain Neoplasms|Glioblastoma; Brain Neoplasms|Glioma; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder Fanconi Anemia Pathway GO:0000712;resolution of meiotic recombination intermediates;IBA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IBA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0031297;replication fork processing;IBA|GO:0031573;intra-S DNA damage checkpoint;IBA|GO:0036297;interstrand cross-link repair;TAS|GO:0072429;response to intra-S DNA damage checkpoint signaling;IMP|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005720;nuclear heterochromatin;IEA|GO:0005730;nucleolus;IEA|GO:0048476;Holliday junction resolvase complex;IBA GO:0003677;DNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004520;endodeoxyribonuclease activity;TAS|GO:0005515;protein binding;IPI|GO:0008821;crossover junction endodeoxyribonuclease activity;IBA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EME1 https://www.uniprot.org/uniprot/Q96AY2 https://www.ncbi.nlm.nih.gov/omim/?term=610885 http://www.informatics.jax.org/searchtool/Search.do?query=EME1&submit=Quick%0D%9821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EME1 rs3760413 0.745407 0.9213 0.8180 0.08 1 13 exonic exonic exonic EME1 EME1 ENSG00000154920 nonsynonymous SNV nonsynonymous SNV unknown EME1:NM_001166131:exon2:c.A207C:p.E69D,EME1:NM_152463:exon2:c.A207C:p.E69D, EME1:uc002iqs.2:exon2:c.A207C:p.E69D,EME1:uc010dbp.2:exon2:c.A207C:p.E69D, UNKNOWN Het;A>C 960;65|39 Hom;A>C 4263;1|145 N N - 17 48629458 48629458 A G snp nonsynonymous SNV A1874G K625R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) SPATA20 Spata20 ENSG00000006282 spermatogenesis associated 20 chr17:48620419-48633213 Mice homozygous for a knock-out allele exhibit male infertility, small testes, severe oligoasthenoteratozoospermia, and abnormal manchette morphology during spermiogenesis resulting in impaired sperm head formation. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005576;extracellular region;IEA GO:0003824;catalytic activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPATA20 https://www.uniprot.org/uniprot/Q8TB22 https://www.ncbi.nlm.nih.gov/omim/?term=613939 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA20&submit=Quick%0D%394ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA20 rs8065903 0.860623 0.8116 0.7864 0.08 1 13 exonic exonic exonic SPATA20 SPATA20 ENSG00000006282 nonsynonymous SNV nonsynonymous SNV unknown SPATA20:NM_022827:exon14:c.A1874G:p.K625R,SPATA20:NM_001258372:exon13:c.A1826G:p.K609R,SPATA20:NM_001258373:exon14:c.A1694G:p.K565R, SPATA20:uc002ird.3:exon14:c.A1874G:p.K625R,SPATA20:uc002ire.3:exon14:c.A1694G:p.K565R,SPATA20:uc002irf.3:exon13:c.A1826G:p.K609R,SPATA20:uc002irc.3:exon15:c.A827G:p.K276R, UNKNOWN Het;A>G 1415;118|71 Hom;A>G 5171;1|197 N N - 17 53076799 53076799 G A snp nonsynonymous SNV G274A G92R aliphatic,neutral polar,hydrophilic,charged(+) STXBP4 Stxbp4 ENSG00000166263 syntaxin binding protein 4 chr17:53046088-53241646 Cholesterol; Type 2 diabetes; Hippocampus; Cholesterol, LDL; breast cancer; Body Mass Index; Inflammatory Bowel Diseases GO:0006605;protein targeting;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0010838;positive regulation of keratinocyte proliferation;IMP|GO:0015758;glucose transport;IEA|GO:0050821;protein stabilization;IMP|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IDA|GO:1902808;positive regulation of cell cycle G1/S phase transition;IMP GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STXBP4 https://www.ncbi.nlm.nih.gov/omim/?term=610415 http://www.informatics.jax.org/searchtool/Search.do?query=STXBP4&submit=Quick%0D%11743ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP4 rs1156287 0.852436 0.7809 0.7803 0.15 2 13 exonic exonic exonic STXBP4 STXBP4 ENSG00000166263 nonsynonymous SNV nonsynonymous SNV unknown STXBP4:NM_178509:exon5:c.G274A:p.G92R, STXBP4:uc010dcc.1:exon4:c.G43A:p.G15R,STXBP4:uc002iuf.1:exon5:c.G274A:p.G92R,STXBP4:uc010dcd.1:exon5:c.G274A:p.G92R, UNKNOWN Het;G>A 1334;51|62 Hom;G>A 2851;0|106 N N - 17 53076986 53076986 G A snp splicing 57-1G>A STXBP4 Stxbp4 ENSG00000166263 syntaxin binding protein 4 chr17:53046088-53241646 Cholesterol; Type 2 diabetes; Hippocampus; Cholesterol, LDL; breast cancer; Body Mass Index; Inflammatory Bowel Diseases GO:0006605;protein targeting;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0010838;positive regulation of keratinocyte proliferation;IMP|GO:0015758;glucose transport;IEA|GO:0050821;protein stabilization;IMP|GO:0061178;regulation of insulin secretion involved in cellular response to glucose stimulus;IDA|GO:1902808;positive regulation of cell cycle G1/S phase transition;IMP GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STXBP4 https://www.ncbi.nlm.nih.gov/omim/?term=610415 http://www.informatics.jax.org/searchtool/Search.do?query=STXBP4&submit=Quick%0D%11743ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP4 rs11658717 0.771366 0.6926 0.7559 0.25 1 4 intronic splicing splicing STXBP4 STXBP4(uc010dcc.1:exon5:c.57-1G>A) ENSG00000166263(ENST00000299341:exon6:c.57-1G>A,ENST00000398391:exon5:c.57-1G>A) Na Na Na Na Na Na Het;G>A 990;31|39 Hom;G>A 1416;0|50 N N - 17 5326089 5326089 C T snp nonsynonymous SNV C413T A138V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RPAIN Rpain ENSG00000129197 RPA interacting protein chr17:5322961-5336196 patent ductus arteriosus Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture. GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPAIN https://www.uniprot.org/uniprot/Q86UA6 https://www.ncbi.nlm.nih.gov/omim/?term=617299 http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN rs1071648 0.445887 0.2559 0.3654 1 0 0 exonic exonic exonic RPAIN RPAIN ENSG00000129197 synonymous SNV nonsynonymous SNV unknown RPAIN:NM_001033002:exon3:c.C253T:p.L85L,RPAIN:NM_001160244:exon3:c.C253T:p.L85L,RPAIN:NM_001160246:exon3:c.C253T:p.L85L,RPAIN:NM_001160243:exon3:c.C253T:p.L85L,RPAIN:NM_001160266:exon3:c.C253T:p.L85L, RPAIN:uc002gbu.2:exon3:c.C413T:p.A138V,RPAIN:uc002gbp.1:exon3:c.C413T:p.A138V,RPAIN:uc002gbs.2:exon3:c.C413T:p.A138V, UNKNOWN Het;C>T 192;21|13 Hom;C>T 751;0|28 N N - 17 5326145 5326145 C G snp nonsynonymous SNV C309G N103K polar,hydrophilic,neutral polar,hydrophilic,charged(+) RPAIN Rpain ENSG00000129197 RPA interacting protein chr17:5322961-5336196 patent ductus arteriosus Mice homozygous for a knock-out allele show complete embryonic lethality between implantation and somite formation and decreased trophectoderm cell proliferation during outgrowth culture. GO:0006261;DNA-dependent DNA replication;IPI|GO:0006281;DNA repair;IPI|GO:0006310;DNA recombination;IPI|GO:0006606;protein import into nucleus;IDA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0016605;PML body;IEA GO:0032403;protein complex binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPAIN https://www.uniprot.org/uniprot/Q86UA6 https://www.ncbi.nlm.nih.gov/omim/?term=617299 http://www.informatics.jax.org/searchtool/Search.do?query=RPAIN&submit=Quick%0D%6227ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPAIN rs12761 0.446086 0.2560 0.3651 0.08 1 12 exonic exonic exonic RPAIN RPAIN ENSG00000129197 nonsynonymous SNV nonsynonymous SNV unknown RPAIN:NM_001033002:exon3:c.C309G:p.N103K,RPAIN:NM_001160244:exon3:c.C309G:p.N103K,RPAIN:NM_001160246:exon3:c.C309G:p.N103K,RPAIN:NM_001160243:exon3:c.C309G:p.N103K,RPAIN:NM_001160266:exon3:c.C309G:p.N103K, RPAIN:uc002gbu.2:exon3:c.C469G:p.P157A,RPAIN:uc002gbp.1:exon3:c.C469G:p.P157A,RPAIN:uc002gbs.2:exon3:c.C469G:p.P157A,RPAIN:uc002gbt.2:exon3:c.C309G:p.N103K,RPAIN:uc010vtb.1:exon3:c.C309G:p.N103K,RPAIN:uc010vsz.1:exon3:c.C309G:p.N103K,RPAIN:uc002gbw.2:exon3:c.C309G:p.N103K,RPAIN:uc002gbq.2:exon3:c.C309G:p.N103K, UNKNOWN Het;C>G 554;22|16 Hom;C>G 1311;0|32 N N - 17 54978794 54978794 G A snp nonsynonymous SNV C1073T P358L hydrophobic,neutral aliphatic,hydrophobic,neutral TRIM25 Trim25 ENSG00000121060 tripartite motif containing 25 chr17:54965270-54991399 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. [provided by RefSeq, Jul 2008] Height; height Engineered mutations result in a compromised response to estrogen resulting in functional but small uteri. Negative regulators of DDX58/IFIH1 signaling GO:0002376;immune system process;IEA|GO:0006513;protein monoubiquitination;IMP|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0019985;translesion synthesis;TAS|GO:0030433;ubiquitin-dependent ERAD pathway;IEA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0033280;response to vitamin D;IEA|GO:0036503;ERAD pathway;IMP|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043627;response to estrogen;IDA|GO:0045087;innate immune response;TAS|GO:0046596;regulation of viral entry into host cell;IDA|GO:0046597;negative regulation of viral entry into host cell;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:1902186;regulation of viral release from host cell;IMP|GO:1902187;negative regulation of viral release from host cell;IEA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016874;ligase activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:1904264;ubiquitin protein ligase activity involved in ERAD pathway;IMP http://www.genecards.org/index.php?path=/Search/keyword/TRIM25 https://www.uniprot.org/uniprot/Q14258 https://www.ncbi.nlm.nih.gov/omim/?term=600453 http://www.informatics.jax.org/searchtool/Search.do?query=TRIM25&submit=Quick%0D%5284ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM25 rs205498 0.774361 0.7625 0.7485 0.08 1 13 exonic exonic exonic TRIM25 TRIM25 ENSG00000121060 nonsynonymous SNV nonsynonymous SNV unknown TRIM25:NM_005082:exon4:c.C1073T:p.P358L, TRIM25:uc002iut.3:exon4:c.C1073T:p.P358L,TRIM25:uc010dcj.3:exon5:c.C449T:p.P150L, UNKNOWN Het;G>A 1919;77|91 Hom;G>A 3800;0|139 N N - 17 55822467 55822467 G A snp nonsynonymous SNV C167T A56V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CCDC182 Ccdc182 ENSG00000166329 coiled-coil domain containing 182 chr17:55821842-55822673 GO:0008585;female gonad development;IEA GO:0005575;cellular_component;ND GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/CCDC182 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC182&submit=Quick%0D%11759ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC182 rs12449409 0.438299 0 0.4942 0.12 1 8 exonic intergenic exonic CCDC182 MSI2(dist=65168),7SK(dist=44343) ENSG00000166329 nonsynonymous SNV Na unknown CCDC182:NM_001282544:exon1:c.C167T:p.A56V, Na UNKNOWN Het;G>A 1719;79|82 Hom;G>A 3167;2|122 N N - 17 59668021 59668021 G C snp nonsynonymous SNV C521G T174R polar,hydrophilic,neutral polar,hydrophilic,charged(+) NACA2 Naca ENSG00000253506 nascent polypeptide associated complex alpha subunit 2 chr17:59667794-59668563 Height; height; Apolipoproteins B Mice homozygous for a point mutation exhibit decreased bone volume and bone formation associated with accelerated mineralization and immature woven-bone formation. Mice null for the muscle specific isoform die during organogenesis with cardiac abnormalities. GO:0006810;transport;IEA|GO:0015031;protein transport;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/NACA2 https://www.ncbi.nlm.nih.gov/omim/?term=609274 http://www.informatics.jax.org/searchtool/Search.do?query=NACA2&submit=Quick%0D%20026ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NACA2 rs61739273 0.149161 0.1213 0.1565 0.42 5 12 exonic exonic exonic NACA2 NACA2 ENSG00000253506 nonsynonymous SNV nonsynonymous SNV unknown NACA2:NM_199290:exon1:c.C521G:p.T174R, NACA2:uc002izj.2:exon1:c.C521G:p.T174R, UNKNOWN Het;G>C 88;13|4 Hom;G>C 245;0|9 N N - 17 66547249 66547249 G A snp nonsynonymous SNV G998A S333N polar,hydrophilic,neutral polar,hydrophilic,neutral PRKAR1A Prkar1a ENSG00000108946 protein kinase cAMP-dependent type I regulatory subunit alpha chr17:66507921-66547460 cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013] Multiple Endocrine Neoplasia Type 1|Pituitary ACTH Hypersecretion|Pituitary Neoplasms; Adenoma|Adrenal Cortex Neoplasms|Cushing Syndrome; Adrenal Cortex Diseases|Myxoma; thyroid cancer Mice homozygous for a null allele exhibit embryonic lethality during organogenesis due to developmental patterning defects. Mice heterozygous for a null allele exhibit background sensitive infertility and increased tumor incidence. Factors involved in megakaryocyte development and platelet production GO:0001707;mesoderm formation;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0003091;renal water homeostasis;TAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0007143;female meiotic division;IEA|GO:0007507;heart development;IEA|GO:0007596;blood coagulation;TAS|GO:0016310;phosphorylation;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0035556;intracellular signal transduction;TAS|GO:0045214;sarcomere organization;IEA|GO:0045835;negative regulation of meiotic nuclear division;IEA|GO:0045859;regulation of protein kinase activity;IEA|GO:0046007;negative regulation of activated T cell proliferation;IMP|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0071377;cellular response to glucagon stimulus;TAS|GO:2000480;negative regulation of cAMP-dependent protein kinase activity;IDA GO:0001772;immunological synapse;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005952;cAMP-dependent protein kinase complex;IEA|GO:0016020;membrane;IDA|GO:0031588;nucleotide-activated protein kinase complex;IDA|GO:0031594;neuromuscular junction;IEA|GO:0043234;protein complex;IDA|GO:0044853;plasma membrane raft;IDA|GO:0097546;ciliary base;TAS GO:0000166;nucleotide binding;IEA|GO:0004862;cAMP-dependent protein kinase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0008603;cAMP-dependent protein kinase regulator activity;TAS|GO:0016301;kinase activity;IEA|GO:0030552;cAMP binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0034236;protein kinase A catalytic subunit binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRKAR1A https://www.uniprot.org/uniprot/P10644 https://hpo.jax.org/app/browse/search?q=PRKAR1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=188830 http://www.informatics.jax.org/searchtool/Search.do?query=PRKAR1A&submit=Quick%0D%3793ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKAR1A rs9789047 0.147963 0 0.1521 0.40 2 5 exonic exonic exonic PRKAR1A PRKAR1A ENSG00000108946 nonsynonymous SNV nonsynonymous SNV unknown PRKAR1A:NM_001276290:exon10:c.G998A:p.S333N, PRKAR1A:uc031ref.1:exon10:c.G998A:p.S333N, UNKNOWN Het;G>A 635;43|35 Hom;G>A 2089;0|81 N N - 17 71196809 71196809 A G snp nonsynonymous SNV A1175G N392S polar,hydrophilic,neutral polar,hydrophilic,neutral COG1 Cog1 ENSG00000166685 component of oligomeric golgi complex 1 chr17:71189129-71204646 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008] Alzheimer's disease Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;NAS|GO:0007030;Golgi organization;NAS|GO:0015031;protein transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0017119;Golgi transport complex;IDA|GO:0032588;trans-Golgi network membrane;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COG1 https://hpo.jax.org/app/browse/search?q=COG1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606973 http://www.informatics.jax.org/searchtool/Search.do?query=COG1&submit=Quick%0D%11846ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COG1 rs1026128 0.520966 0.5321 0.5231 0.08 1 13 exonic exonic exonic COG1 COG1 ENSG00000166685 nonsynonymous SNV nonsynonymous SNV unknown COG1:NM_018714:exon6:c.A1175G:p.N392S, COG1:uc002jjg.3:exon6:c.A1175G:p.N392S,COG1:uc002jjh.3:exon6:c.A1175G:p.N392S,COG1:uc002jjf.1:exon6:c.A1175G:p.N392S, UNKNOWN Het;A>G 1430;84|66 Hom;A>G 5169;0|185 N N - 17 71205854 71205854 A G snp nonsynonymous SNV T275C I92T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral FAM104A Fam104a ENSG00000133193 family with sequence similarity 104 member A chr17:71203492-71232892 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM104A https://www.uniprot.org/uniprot/Q969W3 http://www.informatics.jax.org/searchtool/Search.do?query=FAM104A&submit=Quick%0D%6812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM104A rs8387 0.576078 0.6217 0.5853 0.50 2 4 exonic exonic exonic FAM104A FAM104A ENSG00000133193 nonsynonymous SNV synonymous SNV unknown FAM104A:NM_001289410:exon2:c.T275C:p.I92T,FAM104A:NM_001289411:exon3:c.T293C:p.I98T, FAM104A:uc002jjj.4:exon4:c.T438C:p.N146N,FAM104A:uc002jji.4:exon3:c.T375C:p.N125N, UNKNOWN Het;A>G 711;37|32 Hom;A>G 1158;0|41 N N - 17 71232687 71232687 T C snp nonsynonymous SNV T1066C F356L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs745143 0.519369 0.5309 0.5234 0.15 2 13 exonic exonic exonic C17orf80 C17orf80 ENSG00000141219 nonsynonymous SNV nonsynonymous SNV unknown C17orf80:NM_001288770:exon3:c.T1066C:p.F356L,C17orf80:NM_017941:exon3:c.T1066C:p.F356L,C17orf80:NM_001100621:exon3:c.T1066C:p.F356L,C17orf80:NM_001288771:exon3:c.T1066C:p.F356L,C17orf80:NM_001100622:exon3:c.T1066C:p.F356L, C17orf80:uc010wqu.1:exon3:c.T1066C:p.F356L,C17orf80:uc002jjk.1:exon3:c.T1066C:p.F356L,C17orf80:uc002jjm.4:exon3:c.T1066C:p.F356L,C17orf80:uc010dfj.3:exon3:c.T1066C:p.F356L,C17orf80:uc002jjl.4:exon3:c.T1066C:p.F356L, UNKNOWN Het;T>C 1995;107|88 Hom;T>C 5226;2|179 N N - 17 71232807 71232807 T C snp nonsynonymous SNV T1186C C396R polar,hydrophobic,neutral polar,hydrophilic,charged(+) C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs904383 0.522364 0.5335 0.5259 0.08 1 13 exonic exonic exonic C17orf80 C17orf80 ENSG00000141219 nonsynonymous SNV nonsynonymous SNV unknown C17orf80:NM_001288770:exon3:c.T1186C:p.C396R,C17orf80:NM_017941:exon3:c.T1186C:p.C396R,C17orf80:NM_001100621:exon3:c.T1186C:p.C396R,C17orf80:NM_001288771:exon3:c.T1186C:p.C396R,C17orf80:NM_001100622:exon3:c.T1186C:p.C396R, C17orf80:uc010wqu.1:exon3:c.T1186C:p.C396R,C17orf80:uc002jjk.1:exon3:c.T1186C:p.C396R,C17orf80:uc002jjm.4:exon3:c.T1186C:p.C396R,C17orf80:uc010dfj.3:exon3:c.T1186C:p.C396R,C17orf80:uc002jjl.4:exon3:c.T1186C:p.C396R, UNKNOWN Het;T>C 978;56|48 Hom;T>C 4778;0|107 N N - 17 71232881 71232881 G C snp nonsynonymous SNV G1260C Q420H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs745142 0.521765 0.5337 0.5259 0.15 2 13 exonic exonic exonic C17orf80 C17orf80 ENSG00000141219 nonsynonymous SNV nonsynonymous SNV unknown C17orf80:NM_001288770:exon3:c.G1260C:p.Q420H,C17orf80:NM_017941:exon3:c.G1260C:p.Q420H,C17orf80:NM_001100621:exon3:c.G1260C:p.Q420H,C17orf80:NM_001288771:exon3:c.G1260C:p.Q420H,C17orf80:NM_001100622:exon3:c.G1260C:p.Q420H, C17orf80:uc010wqu.1:exon3:c.G1260C:p.Q420H,C17orf80:uc002jjk.1:exon3:c.G1260C:p.Q420H,C17orf80:uc002jjm.4:exon3:c.G1260C:p.Q420H,C17orf80:uc010dfj.3:exon3:c.G1260C:p.Q420H,C17orf80:uc002jjl.4:exon3:c.G1260C:p.Q420H, UNKNOWN Het;G>C 1110;53|50 Hom;G>C 2505;0|87 N N - 17 71238433 71238433 G A snp nonsynonymous SNV G1564A A522T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral C17orf80 D11Wsu47e ENSG00000141219 chromosome 17 open reading frame 80 chr17:71228372-71245091 GO:0008150;biological_process;ND GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C17orf80 https://www.uniprot.org/uniprot/Q9BSJ5 http://www.informatics.jax.org/searchtool/Search.do?query=C17orf80&submit=Quick%0D%8130ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C17orf80 rs1566286 0.515974 0.5264 0.5217 0.15 2 13 exonic exonic exonic C17orf80 C17orf80 ENSG00000141219 nonsynonymous SNV nonsynonymous SNV unknown C17orf80:NM_017941:exon4:c.G1564A:p.A522T,C17orf80:NM_001100622:exon4:c.G1564A:p.A522T, C17orf80:uc002jjk.1:exon4:c.G1564A:p.A522T,C17orf80:uc002jjm.4:exon4:c.G1564A:p.A522T, UNKNOWN Het;G>A 567;27|28 Hom;G>A 2369;0|92 N N - 17 73565171 73565171 T C snp nonsynonymous SNV T1435C F479L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LLGL2 Llgl2 ENSG00000073350 LLGL2, scribble cell polarity complex component chr17:73521161-73571289 The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension; Brain Ischemia|Stroke Mice homozygous for a gene-trapped allele exhibit abnormal branching morphogenesis of GO:0006887;exocytosis;IEA|GO:0007049;cell cycle;IEA|GO:0017157;regulation of exocytosis;IBA|GO:0032878;regulation of establishment or maintenance of cell polarity;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050708;regulation of protein secretion;IBA|GO:0051301;cell division;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005096;GTPase activator activity;IBA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0030165;PDZ domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LLGL2 https://www.uniprot.org/uniprot/Q6P1M3 http://www.informatics.jax.org/searchtool/Search.do?query=LLGL2&submit=Quick%0D%1467ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LLGL2 rs1671021 0.464856 0.5344 0.3773 0.23 3 13 exonic exonic exonic LLGL2 LLGL2 ENSG00000073350 nonsynonymous SNV nonsynonymous SNV unknown LLGL2:NM_004524:exon13:c.T1435C:p.F479L,LLGL2:NM_001031803:exon13:c.T1435C:p.F479L, LLGL2:uc010dgg.2:exon13:c.T1435C:p.F479L,LLGL2:uc010wsd.2:exon5:c.T316C:p.F106L,LLGL2:uc002joj.3:exon10:c.T1402C:p.F468L,LLGL2:uc002joh.3:exon13:c.T1435C:p.F479L,LLGL2:uc002joi.3:exon13:c.T1435C:p.F479L, UNKNOWN Het;T>C 1712;87|80 Hom;T>C 4009;1|139 N N - 17 7386279 7386279 T C snp nonsynonymous SNV T976C W326R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) SLC35G6 Slc35g3 ENSG00000284515 solute carrier family 35 member G6 chr17:7384721-7386383 breast cancer http://www.genecards.org/index.php?path=/Search/keyword/SLC35G6 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35G6&submit=Quick%0D%23047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35G6 rs7219992 0.747204 0 0.7466 0.17 2 12 exonic exonic exonic SLC35G6 SLC35G6 ENSG00000259224 nonsynonymous SNV nonsynonymous SNV unknown SLC35G6:NM_001102614:exon2:c.T976C:p.W326R, SLC35G6:uc010cmj.1:exon2:c.T976C:p.W326R, UNKNOWN Het;T>C 3432;119|91 Hom;T>C 5574;2|192 N N - 17 7386280 7386280 G A snp stopgain G977A W326X aromatic,hydrophobic,neutral SLC35G6 Slc35g3 ENSG00000284515 solute carrier family 35 member G6 chr17:7384721-7386383 breast cancer http://www.genecards.org/index.php?path=/Search/keyword/SLC35G6 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35G6&submit=Quick%0D%23047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35G6 rs7214088 0.746406 0 0.7461 0.50 2 4 exonic exonic exonic SLC35G6 SLC35G6 ENSG00000259224 stopgain stopgain unknown SLC35G6:NM_001102614:exon2:c.G977A:p.W326X, SLC35G6:uc010cmj.1:exon2:c.G977A:p.W326X, UNKNOWN Het;G>A 3432;119|91 Hom;G>A 8576;0|190 N N - 17 73949540 73949540 G C snp nonsynonymous SNV C936G I312M aliphatic,hydrophobic,neutral hydrophobic,neutral ACOX1 Acox1 ENSG00000161533 acyl-CoA oxidase 1 chr17:73937588-73975515 The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Insulin; plasma HDL cholesterol (HDL-C) levels Mice homozygous for a targeted mutation that inactivates the gene show growth retardation, infertility, excess very long chain fatty acids in the blood, and progressive liver disease, including hepatomegaly, and hepatic adenomas and carcinomas. Beta-oxidation of very long chain fatty acids GO:0000038;very long-chain fatty acid metabolic process;IMP|GO:0006091;generation of precursor metabolites and energy;IMP|GO:0006629;lipid metabolic process;IDA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0006693;prostaglandin metabolic process;IMP|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0019395;fatty acid oxidation;IMP|GO:0033540;fatty acid beta-oxidation using acyl-CoA oxidase;TAS|GO:0036109;alpha-linolenic acid metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IEA|GO:0005782;peroxisomal matrix;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003995;acyl-CoA dehydrogenase activity;IEA|GO:0003997;acyl-CoA oxidase activity;TAS|GO:0005102;receptor binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0030165;PDZ domain binding;IDA|GO:0047485;protein N-terminus binding;IPI|GO:0050660;flavin adenine dinucleotide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACOX1 https://hpo.jax.org/app/browse/search?q=ACOX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609751 http://www.informatics.jax.org/searchtool/Search.do?query=ACOX1&submit=Quick%0D%10581ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOX1 rs1135640 0.550719 0.5087 0.6424 0.31 4 13 exonic exonic exonic ACOX1 ACOX1 ENSG00000161533 nonsynonymous SNV nonsynonymous SNV unknown ACOX1:NM_007292:exon7:c.C936G:p.I312M,ACOX1:NM_001185039:exon7:c.C822G:p.I274M,ACOX1:NM_004035:exon7:c.C936G:p.I312M, ACOX1:uc002jqf.3:exon7:c.C936G:p.I312M,ACOX1:uc010wsq.2:exon7:c.C822G:p.I274M,ACOX1:uc002jqe.3:exon7:c.C936G:p.I312M,ACOX1:uc010wsr.2:exon8:c.C732G:p.I244M, UNKNOWN Het;G>C 1061;47|43 Hom;G>C 2276;0|79 N N - 17 74684401 74684401 T C snp nonsynonymous SNV A329G H110R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) MXRA7 Mxra7 ENSG00000182534 matrix remodeling associated 7 chr17:74668633-74707098 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MXRA7 http://www.informatics.jax.org/searchtool/Search.do?query=MXRA7&submit=Quick%0D%14806ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MXRA7 rs2286587 0.256789 0 0.4107 0.25 1 4 intronic exonic exonic MXRA7 MXRA7 ENSG00000182534 Na nonsynonymous SNV unknown Na MXRA7:uc031rel.1:exon1:c.A329G:p.H110R, UNKNOWN Het;T>C 208;9|8 Hom;T>C 424;1|15 N N - 17 77768654 77768654 C A snp nonsynonymous SNV G950T G317V aliphatic,neutral aliphatic,hydrophobic,neutral CBX8 Cbx8 ENSG00000141570 chromobox 8 chr17:77765931-77775482 Myocardial Infarction Mice homozygous for a knock-out allele exhibit impaired MLL-AF9 transformation but are otherwise viable with normal hematopoiesis. Regulation of PTEN gene transcription GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016574;histone ubiquitination;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0045739;positive regulation of DNA repair;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA GO:0000151;ubiquitin ligase complex;IEA|GO:0000790;nuclear chromatin;IDA|GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0031519;PcG protein complex;IDA|GO:0035102;PRC1 complex;IDA GO:0003727;single-stranded RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0035064;methylated histone binding;IDA|GO:0097027;ubiquitin-protein transferase activator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CBX8 https://www.uniprot.org/uniprot/Q9HC52 https://www.ncbi.nlm.nih.gov/omim/?term=617354 http://www.informatics.jax.org/searchtool/Search.do?query=CBX8&submit=Quick%0D%8196ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CBX8 rs4889891 0.609425 0.5968 0.5555 0.23 3 13 exonic exonic exonic CBX8 CBX8 ENSG00000141570 nonsynonymous SNV nonsynonymous SNV unknown CBX8:NM_020649:exon5:c.G950T:p.G317V, CBX8:uc002jxd.2:exon5:c.G950T:p.G317V, UNKNOWN Het;C>A 806;48|40 Hom;C>A 1985;0|71 N N - 17 79095629 79095629 C A snp nonsynonymous SNV G1798T G600C aliphatic,neutral polar,hydrophobic,neutral AATK Aatk ENSG00000181409 apoptosis associated tyrosine kinase chr17:79091095-79139877 The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] E-Selectin; Heart Failure Mice homozygous for a knock-out allele exhibit decreased brain size, longer axons and fewer neurites. GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AATK https://www.ncbi.nlm.nih.gov/omim/?term=605276 http://www.informatics.jax.org/searchtool/Search.do?query=AATK&submit=Quick%0D%14617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AATK rs7503604 0.55651 0.4645 0.6021 0.08 1 13 exonic exonic exonic AATK AATK ENSG00000181409 nonsynonymous SNV nonsynonymous SNV unknown AATK:NM_004920:exon10:c.G1798T:p.G600C,AATK:NM_001080395:exon11:c.G2107T:p.G703C, AATK:uc010dia.3:exon11:c.G2107T:p.G703C,AATK:uc021ueu.1:exon10:c.G1798T:p.G600C, UNKNOWN Het;C>A 1517;57|69 Hom;C>A 2720;0|102 N N - 17 79424516 79424516 A G snp nonsynonymous SNV A4753G T1585A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral BAHCC1 Bahcc1 rs12601317 0.645767 0.7923 0.7368 0.08 1 13 exonic exonic exonic BAHCC1 BAHCC1 ENSG00000171282 unknown nonsynonymous SNV unknown UNKNOWN BAHCC1:uc002kaf.2:exon16:c.A4753G:p.T1585A,BAHCC1:uc002kae.2:exon13:c.A2629G:p.T877A, UNKNOWN Het;A>G 812;46|40 Hom;A>G 2396;0|71 N N - 17 80006957 80006957 A C snp nonsynonymous SNV T864G H288Q aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral RFNG Rfng ENSG00000169733 RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase chr17:80005778-80009707 Mice homozygous for disruptions of this gene display a completely normal phenotype. Pre-NOTCH Processing in Golgi GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007399;nervous system development;IEA|GO:0009887;animal organ morphogenesis;NAS|GO:0030154;cell differentiation;IEA|GO:0032092;positive regulation of protein binding;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;NAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0033829;O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RFNG https://www.ncbi.nlm.nih.gov/omim/?term=602578 http://www.informatics.jax.org/searchtool/Search.do?query=RFNG&submit=Quick%0D%12554ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFNG rs12948507 0.530551 0.6570 0.6313 0.08 1 13 exonic exonic exonic RFNG RFNG ENSG00000169733 nonsynonymous SNV nonsynonymous SNV unknown RFNG:NM_002917:exon7:c.T864G:p.H288Q, RFNG:uc002kdh.3:exon3:c.T219G:p.H73Q,RFNG:uc002kdj.3:exon7:c.T864G:p.H288Q, UNKNOWN Het;A>C 236;25|14 Hom;A>C 1224;0|43 N N - 17 80007080 80007080 T C snp nonsynonymous SNV A626G K209R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) BC050399 rs28404464 0.578474 0 0.6363 1 0 0 intronic exonic intronic RFNG BC050399 ENSG00000169733 Na nonsynonymous SNV Na Na BC050399:uc021ufl.1:exon1:c.A626G:p.K209R, Na Het;T>C 260;9|8 Hom;T>C 602;0|14 N N - 17 8046772 8046772 C G snp nonsynonymous SNV G2884C A962P aliphatic,hydrophobic,neutral hydrophobic,neutral PER1 Per1 ENSG00000179094 period circadian clock 1 chr17:8043790-8059824 This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014] autism; breast cancer; depression; schizophrenia | bipolar disorder; diurnal preference; Prostatic Neoplasms; cocaine abuse; delayed sleep phase syndrome; Sleep Disorders; bipolar disorder; ADHD | attention-deficit hyperactivity disorder; Autism; prostate cancer Homozygous null mice display a persistent circadian rhythm, but they have a shorter period and their ability to maintain the precision and the stability of the period is impaired. Circadian Clock GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002028;regulation of sodium ion transport;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007623;circadian rhythm;TAS|GO:0009416;response to light stimulus;IEA|GO:0009649;entrainment of circadian clock;TAS|GO:0010608;posttranscriptional regulation of gene expression;IEA|GO:0032922;circadian regulation of gene expression;IDA|GO:0042634;regulation of hair cycle;IMP|GO:0042752;regulation of circadian rhythm;IEA|GO:0043124;negative regulation of I-kappaB kinase/NF-kappaB signaling;ISS|GO:0043153;entrainment of circadian clock by photoperiod;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0043967;histone H4 acetylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0046329;negative regulation of JNK cascade;ISS|GO:0048511;rhythmic process;IEA|GO:0051591;response to cAMP;IEA|GO:0070932;histone H3 deacetylation;IEA|GO:0097167;circadian regulation of translation;IEA|GO:1900015;regulation of cytokine production involved in inflammatory response;ISS|GO:1900744;regulation of p38MAPK cascade;ISS|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA GO:0000976;transcription regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0019900;kinase binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0070888;E-box binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PER1 https://www.ncbi.nlm.nih.gov/omim/?term=602260 http://www.informatics.jax.org/searchtool/Search.do?query=PER1&submit=Quick%0D%14290ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PER1 rs2585405 0.771765 0.8592 0.8544 0.23 3 13 exonic exonic exonic PER1 PER1 ENSG00000179094 nonsynonymous SNV nonsynonymous SNV unknown PER1:NM_002616:exon19:c.G2884C:p.A962P, PER1:uc002gkd.3:exon19:c.G2884C:p.A962P, UNKNOWN Het;C>G 1583;65|73 Hom;C>G 2920;0|102 N N - 17 8079029 8079029 G C snp stopgain C302G S101X polar,hydrophilic,neutral TMEM107 Tmem107 ENSG00000179029 transmembrane protein 107 chr17:8076555-8079717 Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for an ENU induced allele exhibit preaxial polydactyly, exencephaly, microphthalmia, cleft palate, craniofacial defects, short sternum, split sternum and absent floor plate. GO:0007275;multicellular organism development;IEA|GO:0008150;biological_process;ND|GO:0021532;neural tube patterning;IEA|GO:0030030;cell projection organization;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0060271;cilium assembly;ISS|GO:1904491;protein localization to ciliary transition zone;IEA|GO:1905515;non-motile cilium assembly;IMP GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035869;ciliary transition zone;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TMEM107 https://hpo.jax.org/app/browse/search?q=TMEM107&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616183 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM107&submit=Quick%0D%14276ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM107 rs8064449 0.588059 0.5896 0.6426 0.25 1 4 intronic exonic exonic TMEM107 TMEM107 ENSG00000179029 Na stopgain unknown Na TMEM107:uc002gkk.2:exon3:c.C302G:p.S101X, UNKNOWN Het;G>C 458;23|17 Hom;G>C 909;0|29 N N - 17 80904844 80904844 C T snp nonsynonymous SNV G1021A A341T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral B3GNTL1 B3gntl1 ENSG00000277033 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 chr17:80900031-81009686 Hemoglobin A, Glycosylated O-linked glycosylation of mucins GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/B3GNTL1 https://www.ncbi.nlm.nih.gov/omim/?term=615337 http://www.informatics.jax.org/searchtool/Search.do?query=B3GNTL1&submit=Quick%0D%21740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNTL1 rs7225887 0.15595 0.1637 0.2364 0.23 3 13 exonic exonic exonic B3GNTL1 B3GNTL1 ENSG00000175711 nonsynonymous SNV nonsynonymous SNV unknown B3GNTL1:NM_001009905:exon12:c.G1021A:p.A341T, B3GNTL1:uc002kgf.1:exon12:c.G688A:p.A230T,B3GNTL1:uc002kgg.1:exon12:c.G1021A:p.A341T, UNKNOWN Het;C>T 1536;81|77 Hom;C>T 2591;4|104 N N - 17 81009636 81009636 T G snp nonsynonymous SNV A37C S13R polar,hydrophilic,neutral polar,hydrophilic,charged(+) B3GNTL1 B3gntl1 ENSG00000277033 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 chr17:80900031-81009686 Hemoglobin A, Glycosylated O-linked glycosylation of mucins GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/B3GNTL1 https://www.ncbi.nlm.nih.gov/omim/?term=615337 http://www.informatics.jax.org/searchtool/Search.do?query=B3GNTL1&submit=Quick%0D%21740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B3GNTL1 rs57923322 0.237021 0.1452 0.2430 0.08 1 13 exonic exonic exonic B3GNTL1 B3GNTL1 ENSG00000175711 nonsynonymous SNV nonsynonymous SNV unknown B3GNTL1:NM_001009905:exon1:c.A37C:p.S13R, B3GNTL1:uc002kgg.1:exon1:c.A37C:p.S13R, UNKNOWN Het;T>G 273;27|16 Hom;T>G 1055;2|44 N N - 17 8108331 8108331 A G snp nonsynonymous SNV T896C M299T hydrophobic,neutral polar,hydrophilic,neutral AURKB Aurkb ENSG00000178999 aurora kinase B chr17:8108056-8113918 This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015] Leukemia, Lymphocytic, Chronic, B-Cell; Brain Neoplasms|Glioblastoma; breast cancer Heterozygous null mice may develop oligospermia and show premature death and increased tumor incidence. Homozygous null embryos are small and die post-implantation showing reduced inner cell mass outgrowth, mitotic defects, aberrant trophoblast giant cells, edema, hemorrhage and increased apoptosis. Mitotic Prometaphase GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002903;negative regulation of B cell apoptotic process;IDA|GO:0006468;protein phosphorylation;IDA|GO:0007049;cell cycle;IEA|GO:0007051;spindle organization;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0008608;attachment of spindle microtubules to kinetochore;TAS|GO:0009838;abscission;ISS|GO:0016310;phosphorylation;IEA|GO:0016570;histone modification;TAS|GO:0016925;protein sumoylation;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031577;spindle checkpoint;IEA|GO:0032091;negative regulation of protein binding;IDA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032466;negative regulation of cytokinesis;ISS|GO:0032467;positive regulation of cytokinesis;IMP|GO:0034501;protein localization to kinetochore;IMP|GO:0034644;cellular response to UV;IDA|GO:0036089;cleavage furrow formation;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043988;histone H3-S28 phosphorylation;IEA|GO:0046777;protein autophosphorylation;TAS|GO:0051256;mitotic spindle midzone assembly;IMP|GO:0051301;cell division;IEA|GO:0051973;positive regulation of telomerase activity;IMP|GO:0051983;regulation of chromosome segregation;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1904355;positive regulation of telomere capping;IMP GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000779;condensed chromosome, centromeric region;IDA|GO:0000780;condensed nuclear chromosome, centromeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005876;spindle microtubule;IBA|GO:0010369;chromocenter;IEA|GO:0030496;midbody;IEA|GO:0031616;spindle pole centrosome;IBA|GO:0032133;chromosome passenger complex;IPI|GO:0051233;spindle midzone;IBA|GO:1990023;mitotic spindle midzone;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004712;protein serine/threonine/tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0035174;histone serine kinase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AURKB https://www.ncbi.nlm.nih.gov/omim/?term=604970 http://www.informatics.jax.org/searchtool/Search.do?query=AURKB&submit=Quick%0D%14270ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AURKB rs1059476 0.736022 0.8219 0.8306 0.08 1 13 exonic exonic exonic AURKB AURKB ENSG00000178999 nonsynonymous SNV nonsynonymous SNV unknown AURKB:NM_001284526:exon9:c.T896C:p.M299T,AURKB:NM_004217:exon9:c.T893C:p.M298T,AURKB:NM_001256834:exon8:c.T770C:p.M257T, AURKB:uc010cnu.3:exon7:c.T353C:p.M118T,AURKB:uc010vuu.3:exon8:c.T770C:p.M257T,AURKB:uc002gkm.4:exon9:c.T893C:p.M298T,AURKB:uc002gkn.4:exon9:c.T896C:p.M299T,AURKB:uc021tpy.1:exon8:c.T797C:p.M266T, UNKNOWN Het;A>G 2451;53|64 Hom;A>G 4632;0|106 N N - 17 8132763 8132763 T C snp nonsynonymous SNV A3013G I1005V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CTC1 Ctc1 ENSG00000178971 CST telomere replication complex component 1 chr17:8130191-8151362 This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012] CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS Mice homozygous for a targeted allele exhibit defective telomere replication that leads to stem cell exhaustion, bone marrow failure and premature death. GO:0000723;telomere maintenance;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007568;aging;IEA|GO:0010389;regulation of G2/M transition of mitotic cell cycle;IEA|GO:0010833;telomere maintenance via telomere lengthening;IEA|GO:0016233;telomere capping;TAS|GO:0032211;negative regulation of telomere maintenance via telomerase;IDA|GO:0035264;multicellular organism growth;IEA|GO:0045740;positive regulation of DNA replication;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048536;spleen development;IEA|GO:0048538;thymus development;IEA|GO:0048539;bone marrow development;IEA|GO:0051276;chromosome organization;IEA|GO:0071425;hematopoietic stem cell proliferation;IEA|GO:0090399;replicative senescence;IEA GO:0000781;chromosome, telomeric region;IEA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:1990879;CST complex;IDA GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042162;telomeric DNA binding;IDA|GO:0098505;G-rich strand telomeric DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CTC1 https://hpo.jax.org/app/browse/search?q=CTC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613129 http://www.informatics.jax.org/searchtool/Search.do?query=CTC1&submit=Quick%0D%14263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTC1 rs3826543 0.663538 0.8009 0.7509 0.08 1 13 exonic exonic exonic CTC1 CTC1 ENSG00000178971 nonsynonymous SNV nonsynonymous SNV unknown CTC1:NM_025099:exon19:c.A3013G:p.I1005V, CTC1:uc002gkq.4:exon19:c.A3013G:p.I1005V, UNKNOWN Het;T>C 446;46|22 Hom;T>C 1394;0|54 N N - 17 8135061 8135061 T C snp nonsynonymous SNV A2458G I820V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CTC1 Ctc1 ENSG00000178971 CST telomere replication complex component 1 chr17:8130191-8151362 This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012] CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS Mice homozygous for a targeted allele exhibit defective telomere replication that leads to stem cell exhaustion, bone marrow failure and premature death. GO:0000723;telomere maintenance;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007568;aging;IEA|GO:0010389;regulation of G2/M transition of mitotic cell cycle;IEA|GO:0010833;telomere maintenance via telomere lengthening;IEA|GO:0016233;telomere capping;TAS|GO:0032211;negative regulation of telomere maintenance via telomerase;IDA|GO:0035264;multicellular organism growth;IEA|GO:0045740;positive regulation of DNA replication;IEA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048536;spleen development;IEA|GO:0048538;thymus development;IEA|GO:0048539;bone marrow development;IEA|GO:0051276;chromosome organization;IEA|GO:0071425;hematopoietic stem cell proliferation;IEA|GO:0090399;replicative senescence;IEA GO:0000781;chromosome, telomeric region;IEA|GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:1990879;CST complex;IDA GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042162;telomeric DNA binding;IDA|GO:0098505;G-rich strand telomeric DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CTC1 https://hpo.jax.org/app/browse/search?q=CTC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613129 http://www.informatics.jax.org/searchtool/Search.do?query=CTC1&submit=Quick%0D%14263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTC1 rs3027238 0.9373 0.9530 0.9507 0.08 1 13 exonic exonic exonic CTC1 CTC1 ENSG00000178971 nonsynonymous SNV nonsynonymous SNV unknown CTC1:NM_025099:exon14:c.A2458G:p.I820V, CTC1:uc002gkq.4:exon14:c.A2458G:p.I820V, UNKNOWN Het;T>C 801;36|36 Hom;T>C 1938;0|70 N N - 17 8157310 8157310 C T snp nonsynonymous SNV C55T P19S hydrophobic,neutral polar,hydrophilic,neutral PFAS Pfas ENSG00000178921 phosphoribosylformylglycinamidine synthase chr17:8150936-8173809 Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia. Purine ribonucleoside monophosphate biosynthesis GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0042493;response to drug;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004642;phosphoribosylformylglycinamidine synthase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PFAS https://www.ncbi.nlm.nih.gov/omim/?term=602133 http://www.informatics.jax.org/searchtool/Search.do?query=PFAS&submit=Quick%0D%14251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PFAS rs9891699 0.634784 0.7026 0.7432 0.08 1 13 exonic exonic exonic PFAS PFAS ENSG00000178921 nonsynonymous SNV nonsynonymous SNV unknown PFAS:NM_012393:exon2:c.C55T:p.P19S, PFAS:uc002gkr.3:exon2:c.C55T:p.P19S, UNKNOWN Het;C>T 1677;70|77 Hom;C>T 3300;0|116 N N - 17 8161149 8161149 C T snp nonsynonymous SNV C1100T P367L hydrophobic,neutral aliphatic,hydrophobic,neutral PFAS Pfas ENSG00000178921 phosphoribosylformylglycinamidine synthase chr17:8150936-8173809 Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia. Purine ribonucleoside monophosphate biosynthesis GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0042493;response to drug;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004642;phosphoribosylformylglycinamidine synthase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PFAS https://www.ncbi.nlm.nih.gov/omim/?term=602133 http://www.informatics.jax.org/searchtool/Search.do?query=PFAS&submit=Quick%0D%14251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PFAS rs4791641 0.338858 0.4177 0.4346 0.23 3 13 exonic exonic exonic PFAS PFAS ENSG00000178921 nonsynonymous SNV nonsynonymous SNV unknown PFAS:NM_012393:exon10:c.C1100T:p.P367L, PFAS:uc002gkr.3:exon10:c.C1100T:p.P367L, UNKNOWN Het;C>T 383;31|22 Hom;C>T 1290;0|49 N N - 17 8167600 8167600 T C snp nonsynonymous SNV T1862C L621P aliphatic,hydrophobic,neutral hydrophobic,neutral PFAS Pfas ENSG00000178921 phosphoribosylformylglycinamidine synthase chr17:8150936-8173809 Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia. Purine ribonucleoside monophosphate biosynthesis GO:0006164;purine nucleotide biosynthetic process;IEA|GO:0006189;'de novo' IMP biosynthetic process;IEA|GO:0006541;glutamine metabolic process;IEA|GO:0009156;ribonucleoside monophosphate biosynthetic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;TAS|GO:0042493;response to drug;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004642;phosphoribosylformylglycinamidine synthase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PFAS https://www.ncbi.nlm.nih.gov/omim/?term=602133 http://www.informatics.jax.org/searchtool/Search.do?query=PFAS&submit=Quick%0D%14251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PFAS rs11078738 0.525759 0.6903 0.6513 0.08 1 13 exonic exonic exonic PFAS PFAS ENSG00000178921 nonsynonymous SNV nonsynonymous SNV unknown PFAS:NM_012393:exon16:c.T1862C:p.L621P, PFAS:uc002gkr.3:exon16:c.T1862C:p.L621P,PFAS:uc010cnw.1:exon4:c.T362C:p.L121P,PFAS:uc010vuv.2:exon14:c.T590C:p.L197P, UNKNOWN Het;T>C 2456;94|116 Hom;T>C 4992;0|179 N N - 17 8296383 8296383 C T snp nonsynonymous SNV G397A A133T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral RNF222 Rnf222 ENSG00000189051 ring finger protein 222 chr17:8294022-8301144 GO:0016567;protein ubiquitination;IBA|GO:0033234;negative regulation of protein sumoylation;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033768;SUMO-targeted ubiquitin ligase complex;IBA GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/RNF222 http://www.informatics.jax.org/searchtool/Search.do?query=RNF222&submit=Quick%0D%16168ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF222 rs12601362 0.183307 0.1831 0.3492 0.08 1 12 exonic exonic exonic RNF222 RNF222 ENSG00000189051 nonsynonymous SNV nonsynonymous SNV unknown RNF222:NM_001146684:exon3:c.G397A:p.A133T, RNF222:uc021tqa.1:exon1:c.G397A:p.A133T,RNF222:uc010vuy.1:exon3:c.G397A:p.A133T, UNKNOWN Het;C>T 832;31|37 Hom;C>T 2026;0|71 N N - 17 8296440 8296440 G A snp nonsynonymous SNV C340T P114S hydrophobic,neutral polar,hydrophilic,neutral RNF222 Rnf222 ENSG00000189051 ring finger protein 222 chr17:8294022-8301144 GO:0016567;protein ubiquitination;IBA|GO:0033234;negative regulation of protein sumoylation;IBA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033768;SUMO-targeted ubiquitin ligase complex;IBA GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/RNF222 http://www.informatics.jax.org/searchtool/Search.do?query=RNF222&submit=Quick%0D%16168ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF222 rs12601265 0.652556 0 0.7207 0.08 1 12 exonic exonic exonic RNF222 RNF222 ENSG00000189051 nonsynonymous SNV nonsynonymous SNV unknown RNF222:NM_001146684:exon3:c.C340T:p.P114S, RNF222:uc021tqa.1:exon1:c.C340T:p.P114S,RNF222:uc010vuy.1:exon3:c.C340T:p.P114S, UNKNOWN Het;G>A 1059;39|40 Hom;G>A 2521;0|92 N N - 17 9515777 9515777 G A snp nonsynonymous SNV G1006A E336K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) CFAP52 Cfap52 rs6503235 0.599641 0.6380 0.7106 0.15 2 13 exonic exonic exonic CFAP52 WDR16 ENSG00000166596 nonsynonymous SNV nonsynonymous SNV unknown CFAP52:NM_145054:exon8:c.G1006A:p.E336K,CFAP52:NM_001080556:exon7:c.G802A:p.E268K, WDR16:uc002gly.3:exon8:c.G1006A:p.E336K,WDR16:uc002glz.3:exon7:c.G802A:p.E268K,WDR16:uc010coc.3:exon9:c.G1036A:p.E346K, UNKNOWN Het;G>A 597;39|30 Hom;G>A 1874;0|71 N N - 18 12096249 12096249 G T snp nonsynonymous SNV G562T A188S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ANKRD62 ENSG00000181626 ankyrin repeat domain 62 chr18:12093852-12129748 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62 rs1986751 0.524561 0 0.6040 0.14 1 7 exonic exonic exonic ANKRD62 ANKRD62 ENSG00000181626 nonsynonymous SNV nonsynonymous SNV unknown ANKRD62:NM_001277333:exon4:c.G562T:p.A188S, ANKRD62:uc031rhk.1:exon4:c.G562T:p.A188S, UNKNOWN Het;G>T 1408;42|67 Hom;G>T 1654;2|66 N N - 18 12099654 12099654 T C snp nonsynonymous SNV T793C C265R polar,hydrophobic,neutral polar,hydrophilic,charged(+) ANKRD62 ENSG00000181626 ankyrin repeat domain 62 chr18:12093852-12129748 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62 rs6505715 0.524361 0 0.6014 0.17 1 6 exonic exonic exonic ANKRD62 ANKRD62 ENSG00000181626 nonsynonymous SNV nonsynonymous SNV unknown ANKRD62:NM_001277333:exon6:c.T793C:p.C265R, ANKRD62:uc031rhk.1:exon6:c.T793C:p.C265R, UNKNOWN Het;T>C 764;38|39 Hom;T>C 2558;0|96 N N - 18 12115509 12115509 G A snp nonsynonymous SNV G1216A E406K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) ANKRD62 ENSG00000181626 ankyrin repeat domain 62 chr18:12093852-12129748 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62 rs4519391 0.527356 0 0.6094 0.44 4 9 exonic exonic exonic ANKRD62 ANKRD62 ENSG00000181626 nonsynonymous SNV nonsynonymous SNV unknown ANKRD62:NM_001277333:exon10:c.G1216A:p.E406K, ANKRD62:uc031rhk.1:exon10:c.G1216A:p.E406K, UNKNOWN Het;G>A 539;56|31 Hom;G>A 2105;1|81 N N - 18 12125657 12125657 G A snp nonsynonymous SNV G1837A A613T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ANKRD62 ENSG00000181626 ankyrin repeat domain 62 chr18:12093852-12129748 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD62 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD62&submit=Quick%0D%14645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD62 rs7243248 0.546526 0 0.6118 0.11 1 9 exonic exonic exonic ANKRD62 ANKRD62 ENSG00000181626 nonsynonymous SNV nonsynonymous SNV unknown ANKRD62:NM_001277333:exon13:c.G1837A:p.A613T, ANKRD62:uc031rhk.1:exon13:c.G1837A:p.A613T, UNKNOWN Het;G>A 962;45|46 Hom;G>A 2269;0|83 N N - 18 12984144 12984144 C A snp nonsynonymous SNV C1025A T342N polar,hydrophilic,neutral polar,hydrophilic,neutral SEH1L Seh1l ENSG00000085415 SEH1 like nucleoporin chr18:12947132-12987535 The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mitotic Prometaphase GO:0002534;cytokine production involved in inflammatory response;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006810;transport;IEA|GO:0006999;nuclear pore organization;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007080;mitotic metaphase plate congression;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0032008;positive regulation of TOR signaling;IMP|GO:0034198;cellular response to amino acid starvation;IMP|GO:0034629;cellular protein complex localization;IMP|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0051028;mRNA transport;IEA|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS|GO:1904263;positive regulation of TORC1 signaling;IMP GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IEA|GO:0005694;chromosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005829;cytosol;TAS|GO:0031080;nuclear pore outer ring;IDA|GO:0061700;GATOR2 complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SEH1L https://www.uniprot.org/uniprot/Q96EE3 https://www.ncbi.nlm.nih.gov/omim/?term=609263 http://www.informatics.jax.org/searchtool/Search.do?query=SEH1L&submit=Quick%0D%1886ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEH1L rs6505776 0.782149 0.7225 0.6769 0.15 2 13 exonic exonic exonic SEH1L SEH1L ENSG00000085415 nonsynonymous SNV nonsynonymous SNV unknown SEH1L:NM_001013437:exon8:c.C1025A:p.T342N,SEH1L:NM_031216:exon8:c.C1025A:p.T342N, SEH1L:uc002krq.3:exon8:c.C1025A:p.T342N,SEH1L:uc002krr.3:exon8:c.C1025A:p.T342N, UNKNOWN Het;C>A 1129;63|58 Hom;C>A 4913;0|184 N N - 18 14105853 14105853 C A snp nonsynonymous SNV G686T R229I polar,hydrophilic,charged(+) aliphatic,hydrophobic,neutral ZNF519 Zfp386 ENSG00000175322 zinc finger protein 519 chr18:14057456-14132489 Amyotrophic Lateral Sclerosis| Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0051038;negative regulation of transcription involved in meiotic cell cycle;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF519 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF519&submit=Quick%0D%13680ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF519 rs8094412 0.165136 0.1117 0.1596 0.20 2 10 exonic exonic exonic ZNF519 ZNF519 ENSG00000175322 nonsynonymous SNV nonsynonymous SNV unknown ZNF519:NM_145287:exon3:c.G686T:p.R229I, ZNF519:uc002kst.2:exon3:c.G686T:p.R229I, UNKNOWN Het;C>A 1795;61|83 Hom;C>A 4083;0|153 N N - 18 20953720 20953720 G A snp nonsynonymous SNV C391T L131F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral TMEM241 Tmem241 ENSG00000134490 transmembrane protein 241 chr18:20777108-21017925 Neutrophils; Stroke; height; Height GO:0008643;carbohydrate transport;IEA|GO:0036085;GDP-fucose import into Golgi lumen;IEA GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005457;GDP-fucose transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM241 https://www.uniprot.org/uniprot/Q24JQ0 https://www.ncbi.nlm.nih.gov/omim/?term=615430 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM241&submit=Quick%0D%6988ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM241 rs8099409 0.410543 0.4889 0.4377 0.15 2 13 exonic exonic exonic TMEM241 TMEM241 ENSG00000134490 nonsynonymous SNV nonsynonymous SNV unknown TMEM241:NM_032933:exon7:c.C391T:p.L131F, TMEM241:uc002kuf.3:exon7:c.C391T:p.L131F,TMEM241:uc031rhs.1:exon8:c.C28T:p.L10F, UNKNOWN Het;G>A 763;24|34 Hom;G>A 1935;0|74 N N - 18 21120444 21120444 T C snp nonsynonymous SNV A2572G I858V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NPC1 Npc1 ENSG00000141458 NPC intracellular cholesterol transporter 1 chr18:21086148-21166862 This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan. LDL clearance GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NPC1 https://www.uniprot.org/uniprot/O15118 https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607623 http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1 rs1805082 0.485823 0.4427 0.4947 0.46 6 13 exonic exonic exonic NPC1 NPC1 ENSG00000141458 nonsynonymous SNV nonsynonymous SNV unknown NPC1:NM_000271:exon17:c.A2572G:p.I858V, NPC1:uc010xba.1:exon15:c.A2107G:p.I703V,NPC1:uc010xaz.2:exon10:c.A1771G:p.I591V,NPC1:uc002kum.4:exon17:c.A2572G:p.I858V, UNKNOWN Het;T>C 632;34|32 Hom;T>C 1517;0|57 N N - 18 21124945 21124945 C G snp nonsynonymous SNV G1926C M642I hydrophobic,neutral aliphatic,hydrophobic,neutral NPC1 Npc1 ENSG00000141458 NPC intracellular cholesterol transporter 1 chr18:21086148-21166862 This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan. LDL clearance GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NPC1 https://www.uniprot.org/uniprot/O15118 https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607623 http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1 rs1788799 0.831669 0.7347 0.7177 0.23 3 13 exonic exonic exonic NPC1 NPC1 ENSG00000141458 nonsynonymous SNV nonsynonymous SNV unknown NPC1:NM_000271:exon12:c.G1926C:p.M642I, NPC1:uc010xba.1:exon10:c.G1461C:p.M487I,NPC1:uc010xaz.2:exon5:c.G1125C:p.M375I,NPC1:uc002kum.4:exon12:c.G1926C:p.M642I, UNKNOWN Het;C>G 451;86|25 Hom;C>G 964;0|31 N N - 18 21140432 21140432 T C snp nonsynonymous SNV A644G H215R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) NPC1 Npc1 ENSG00000141458 NPC intracellular cholesterol transporter 1 chr18:21086148-21166862 This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] Obesity; Niemann-Pick type C disease; Alzheimer's disease; Type 2 diabetes; Temporal Lobe; hypertension; Coronary Artery Disease|Coronary Disease|Coronary heart disease; Coronary Artery Disease; Lymphoma, Non-Hodgkin; Niemann-Pick Disease, Type C; obesity; Alzheimer's disease ; plasma HDL-C levels; Type 2 Diabetes| edema | rosiglitazone Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan. LDL clearance GO:0006486;protein glycosylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;IEA|GO:0006914;autophagy;IGI|GO:0007041;lysosomal transport;ISS|GO:0007165;signal transduction;IEA|GO:0007628;adult walking behavior;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008206;bile acid metabolic process;ISS|GO:0016032;viral process;IEA|GO:0016242;negative regulation of macroautophagy;IEA|GO:0030301;cholesterol transport;IDA|GO:0031579;membrane raft organization;IMP|GO:0033344;cholesterol efflux;IDA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0046686;response to cadmium ion;IEA|GO:0046718;viral entry into host cell;IMP|GO:0060548;negative regulation of cell death;IEA|GO:0071383;cellular response to steroid hormone stimulus;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IEA|GO:0090150;establishment of protein localization to membrane;IDA|GO:2000189;positive regulation of cholesterol homeostasis;IMP GO:0005576;extracellular region;IEA|GO:0005635;nuclear envelope;IDA|GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IEA|GO:0045121;membrane raft;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0015248;sterol transporter activity;TAS|GO:0015485;cholesterol binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NPC1 https://www.uniprot.org/uniprot/O15118 https://hpo.jax.org/app/browse/search?q=NPC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607623 http://www.informatics.jax.org/searchtool/Search.do?query=NPC1&submit=Quick%0D%8170ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPC1 rs1805081 0.21865 0.2959 0.3287 0.15 2 13 exonic exonic exonic NPC1 NPC1 ENSG00000141458 nonsynonymous SNV nonsynonymous SNV unknown NPC1:NM_000271:exon6:c.A644G:p.H215R, NPC1:uc010xba.1:exon4:c.A179G:p.H60R,NPC1:uc002kum.4:exon6:c.A644G:p.H215R, UNKNOWN Het;T>C 479;21|20 Hom;T>C 1385;0|51 N N - 18 21511034 21511034 C A snp nonsynonymous SNV C8277A N2759K polar,hydrophilic,neutral polar,hydrophilic,charged(+) LAMA3 Lama3 ENSG00000053747 laminin subunit alpha 3 chr18:21269407-21535030 The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014] Lipoproteins, VLDL; hypertension; kidney aging; Chronic renal failure|Kidney Failure, Chronic|Myocardial Infarction; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive. MET activates PTK2 signaling GO:0007155;cell adhesion;IEA|GO:0008544;epidermis development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030334;regulation of cell migration;IEA|GO:0031581;hemidesmosome assembly;TAS|GO:0035987;endodermal cell differentiation;IEP|GO:0045995;regulation of embryonic development;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005610;laminin-5 complex;IEA|GO:0070062;extracellular exosome;IDA GO:0005102;receptor binding;IEA|GO:0005198;structural molecule activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/LAMA3 https://www.uniprot.org/uniprot/Q16787 https://hpo.jax.org/app/browse/search?q=LAMA3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600805 http://www.informatics.jax.org/searchtool/Search.do?query=LAMA3&submit=Quick%0D%962ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA3 rs1154232 0.156749 0.1526 0.1889 0.08 1 12 exonic exonic exonic LAMA3 LAMA3 ENSG00000053747 nonsynonymous SNV nonsynonymous SNV unknown LAMA3:NM_001127717:exon64:c.C8277A:p.N2759K,LAMA3:NM_001127718:exon27:c.C3450A:p.N1150K,LAMA3:NM_000227:exon28:c.C3618A:p.N1206K,LAMA3:NM_198129:exon65:c.C8445A:p.N2815K, LAMA3:uc002kur.3:exon64:c.C8277A:p.N2759K,LAMA3:uc002kuq.3:exon65:c.C8445A:p.N2815K,LAMA3:uc002kus.4:exon28:c.C3618A:p.N1206K,LAMA3:uc002kut.4:exon27:c.C3450A:p.N1150K, UNKNOWN Het;C>A 704;45|32 Hom;C>A 2380;2|90 N N - 18 22020543 22020543 C G snp nonsynonymous SNV C451G L151V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral IMPACT Impact ENSG00000154059 impact RWD domain protein chr18:22006580-22033499 GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0006417;regulation of translation;IEA|GO:0006446;regulation of translational initiation;IEA|GO:0007399;nervous system development;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA|GO:0031333;negative regulation of protein complex assembly;IEA|GO:0031953;negative regulation of protein autophosphorylation;IEA|GO:0034198;cellular response to amino acid starvation;IEA|GO:0042149;cellular response to glucose starvation;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0060548;negative regulation of cell death;IEA|GO:0060733;regulation of eIF2 alpha phosphorylation by amino acid starvation;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071264;positive regulation of translational initiation in response to starvation;IEA|GO:0071468;cellular response to acidic pH;IEA|GO:0071494;cellular response to UV-C;IEA|GO:0072755;cellular response to benomyl;IEA|GO:0097201;negative regulation of transcription from RNA polymerase II promoter in response to stress;IEA|GO:1990138;neuron projection extension;IEA|GO:1990253;cellular response to leucine starvation;IEA GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005844;polysome;IEA GO:0003674;molecular_function;ND|GO:0003779;actin binding;IEA|GO:0043022;ribosome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/IMPACT https://www.uniprot.org/uniprot/Q9P2X3 https://www.ncbi.nlm.nih.gov/omim/?term=615319 http://www.informatics.jax.org/searchtool/Search.do?query=IMPACT&submit=Quick%0D%9719ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IMPACT rs677688 0.871206 0.9264 0.9035 0.08 1 13 exonic exonic exonic IMPACT IMPACT ENSG00000154059 nonsynonymous SNV nonsynonymous SNV unknown IMPACT:NM_018439:exon6:c.C451G:p.L151V, IMPACT:uc002kvg.4:exon5:c.C397G:p.L133V,IMPACT:uc002kvh.4:exon6:c.C451G:p.L151V, UNKNOWN Het;C>G 1696;70|82 Hom;C>G 3839;1|140 N N - 18 334994 334994 A G snp nonsynonymous SNV T1564C S522P polar,hydrophilic,neutral hydrophobic,neutral COLEC12 Colec12 ENSG00000158270 collectin subfamily member 12 chr18:319361-500722 This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Scavenging by Class A Receptors GO:0006898;receptor-mediated endocytosis;TAS|GO:0006910;phagocytosis, recognition;IDA|GO:0006952;defense response;TAS|GO:0006955;immune response;IEA|GO:0009756;carbohydrate mediated signaling;NAS|GO:0034138;toll-like receptor 3 signaling pathway;IMP|GO:0045087;innate immune response;TAS|GO:0050776;regulation of immune response;TAS|GO:0051260;protein homooligomerization;NAS|GO:0060355;positive regulation of cell adhesion molecule production;IMP|GO:0071360;cellular response to exogenous dsRNA;IMP GO:0005581;collagen trimer;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0005044;scavenger receptor activity;TAS|GO:0005534;galactose binding;NAS|GO:0008329;signaling pattern recognition receptor activity;IDA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COLEC12 https://www.ncbi.nlm.nih.gov/omim/?term=607621 http://www.informatics.jax.org/searchtool/Search.do?query=COLEC12&submit=Quick%0D%10187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COLEC12 rs2305025 0.6252 0.6191 0.6262 0.15 2 13 exonic exonic exonic COLEC12 COLEC12 ENSG00000158270 nonsynonymous SNV nonsynonymous SNV unknown COLEC12:NM_130386:exon6:c.T1564C:p.S522P, COLEC12:uc002kkm.3:exon6:c.T1564C:p.S522P, UNKNOWN Het;A>G 1025;26|43 Hom;A>G 2067;0|71 N N - 18 33557466 33557466 A G snp nonsynonymous SNV A130G T44A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral C18orf21 Gm9182 ENSG00000141428 chromosome 18 open reading frame 21 chr18:33552046-33559241 http://www.genecards.org/index.php?path=/Search/keyword/C18orf21 https://www.uniprot.org/uniprot/Q32NC0 http://www.informatics.jax.org/searchtool/Search.do?query=C18orf21&submit=Quick%0D%8157ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C18orf21 rs2276314 0.2498 0.2543 0.2347 0.15 2 13 exonic exonic exonic C18orf21 C18orf21 ENSG00000141428 nonsynonymous SNV nonsynonymous SNV unknown C18orf21:NM_001201474:exon3:c.A130G:p.T44A,C18orf21:NM_031446:exon4:c.A394G:p.T132A,C18orf21:NM_001201475:exon3:c.A130G:p.T44A, C18orf21:uc021uiu.1:exon3:c.A130G:p.T44A,C18orf21:uc002kzc.3:exon4:c.A394G:p.T132A,C18orf21:uc002kzd.3:exon3:c.A130G:p.T44A, UNKNOWN Het;A>G 711;44|36 Hom;A>G 2999;0|109 N N - 18 48333203 48333203 C G snp nonsynonymous SNV G117C R39S polar,hydrophilic,charged(+) polar,hydrophilic,neutral MRO Mro ENSG00000134042 maestro chr18:48324574-48351772 This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit normal reproductive morphology and physiology. GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA http://www.genecards.org/index.php?path=/Search/keyword/MRO https://www.uniprot.org/uniprot/Q9BYG7 https://www.ncbi.nlm.nih.gov/omim/?term=608080 http://www.informatics.jax.org/searchtool/Search.do?query=MRO&submit=Quick%0D%6901ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRO rs4940019 0.463059 0.4007 0.5139 0.23 3 13 exonic exonic exonic MRO MRO ENSG00000134042 nonsynonymous SNV nonsynonymous SNV unknown MRO:NM_001127174:exon3:c.G117C:p.R39S,MRO:NM_031939:exon4:c.G117C:p.R39S,MRO:NM_001127175:exon3:c.G159C:p.R53S,MRO:NM_001127176:exon3:c.G159C:p.R53S, MRO:uc010dpa.3:exon3:c.G159C:p.R53S,MRO:uc002lew.4:exon4:c.G117C:p.R39S,MRO:uc002lex.4:exon4:c.G117C:p.R39S,MRO:uc010dpb.3:exon3:c.G159C:p.R53S,MRO:uc010xdn.2:exon3:c.G117C:p.R39S,MRO:uc010dpc.3:exon3:c.G117C:p.R39S, UNKNOWN Het;C>G 615;63|32 Hom;C>G 2285;0|84 N N - 18 61471523 61471523 G A snp nonsynonymous SNV G797A R266Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral SERPINB7 Serpinb7 ENSG00000166396 serpin family B member 7 chr18:61420169-61472604 This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Glomerulonephritis, IGA|Kidney Failure, Chronic; Glomerulonephritis, IGA; Diabetes Mellitus; Lipoproteins; nephropathy, IgA; ovarian cancer; null GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0032914;positive regulation of transforming growth factor beta1 production;IEA|GO:0032967;positive regulation of collagen biosynthetic process;IEA|GO:0072126;positive regulation of glomerular mesangial cell proliferation;IEA|GO:0090362;positive regulation of platelet-derived growth factor production;IEA GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA GO:0004867;serine-type endopeptidase inhibitor activity;TAS|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SERPINB7 https://hpo.jax.org/app/browse/search?q=SERPINB7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603357 http://www.informatics.jax.org/searchtool/Search.do?query=SERPINB7&submit=Quick%0D%11778ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINB7 rs17782413 0.157947 0.1931 0.2127 0.23 3 13 exonic exonic exonic SERPINB7 SERPINB7 ENSG00000166396 nonsynonymous SNV nonsynonymous SNV unknown SERPINB7:NM_001261830:exon8:c.G797A:p.R266Q,SERPINB7:NM_001040147:exon8:c.G797A:p.R266Q,SERPINB7:NM_003784:exon8:c.G797A:p.R266Q,SERPINB7:NM_001261831:exon7:c.G746A:p.R249Q, SERPINB7:uc010xet.3:exon7:c.G746A:p.R249Q,SERPINB7:uc010dqg.4:exon8:c.G797A:p.R266Q,SERPINB7:uc002ljm.4:exon8:c.G797A:p.R266Q,SERPINB7:uc002ljl.4:exon8:c.G797A:p.R266Q, UNKNOWN Het;G>A 897;31|41 Hom;G>A 1427;1|53 N N - 18 61654463 61654463 A G snp nonsynonymous SNV A1076G H359R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) SERPINB8 Serpinb8 ENSG00000166401 serpin family B member 8 chr18:61637159-61672278 The superfamily of high molecular weight serine proteinase inhibitors (serpins) regulate a diverse set of intracellular and extracellular processes such as complement activation, fibrinolysis, coagulation, cellular differentiation, tumor suppression, apoptosis, and cell migration. Serpins are characterized by well-conserved a tertiary structure that consists of 3 beta sheets and 8 or 9 alpha helices (Huber and Carrell, 1989 [PubMed 2690952]). A critical portion of the molecule, the reactive center loop connects beta sheets A and C. Protease inhibitor-8 (PI8; SERPINB8) is a member of the ov-serpin subfamily, which, relative to the archetypal serpin PI1 (MIM 107400), is characterized by a high degree of homology to chicken ovalbumin, lack of N- and C-terminal extensions, absence of a signal peptide, and a serine rather than an asparagine residue at the penultimate position (summary by Bartuski et al., 1997 [PubMed 9268635]).[supplied by OMIM, Jan 2010] Coronary Disease|Coronary heart disease|Myocardial Infarction; Tobacco Use Disorder; Albumins; Psoriasis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke Dissolution of Fibrin Clot GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IDA|GO:0090136;epithelial cell-cell adhesion;IMP GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SERPINB8 https://hpo.jax.org/app/browse/search?q=SERPINB8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601697 http://www.informatics.jax.org/searchtool/Search.do?query=SERPINB8&submit=Quick%0D%11780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINB8 rs3826616 0.548522 0.5277 0.5834 0.77 10 13 exonic exonic exonic SERPINB8 SERPINB8 ENSG00000166401 nonsynonymous SNV nonsynonymous SNV unknown SERPINB8:NM_198833:exon7:c.A1076G:p.H359R,SERPINB8:NM_001276490:exon6:c.A530G:p.H177R,SERPINB8:NM_002640:exon7:c.A1076G:p.H359R, SERPINB8:uc010xex.2:exon6:c.A530G:p.H177R,SERPINB8:uc002ljv.3:exon7:c.A1076G:p.H359R,SERPINB8:uc002lju.3:exon7:c.A1076G:p.H359R, UNKNOWN Het;A>G 1357;91|69 Hom;A>G 3705;0|136 N N - 18 63530016 63530016 A G snp nonsynonymous SNV A1727G N576S polar,hydrophilic,neutral polar,hydrophilic,neutral CDH7 Cdh7 ENSG00000081138 cadherin 7 chr18:63417488-63548638 This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016] Body Height; Uric Acid; Cholesterol, HDL; Arteries; Triglycerides; Vitamin D; Tobacco Use Disorder; Pulse Adherens junctions interactions GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0034332;adherens junction organization;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH7 https://www.uniprot.org/uniprot/Q9ULB5 https://www.ncbi.nlm.nih.gov/omim/?term=605806 http://www.informatics.jax.org/searchtool/Search.do?query=CDH7&submit=Quick%0D%1760ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH7 rs2291343 0.629593 0.5895 0.7023 0.38 5 13 exonic exonic exonic CDH7 CDH7 ENSG00000081138 nonsynonymous SNV nonsynonymous SNV unknown CDH7:NM_004361:exon11:c.A1727G:p.N576S,CDH7:NM_033646:exon11:c.A1727G:p.N576S, CDH7:uc002lka.3:exon11:c.A1727G:p.N576S,CDH7:uc002lkb.3:exon11:c.A1727G:p.N576S,CDH7:uc002ljz.3:exon11:c.A1727G:p.N576S, UNKNOWN Het;A>G 2431;113|110 Hom;A>G 6087;1|219 N N - 18 77246406 77246406 T G snp nonsynonymous SNV T2212G C738G polar,hydrophobic,neutral aliphatic,neutral NFATC1 Nfatc1 ENSG00000131196 nuclear factor of activated T-cells 1 chr18:77155856-77289325 The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013] Type 2 Diabetes| edema | rosiglitazone; Blood Pressure; Eosinophils; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Bone Mineral Density; heart anomalies, congenital; Body Fat Distribution Homozygous mutation of this gene results in lethality throughout fetal growth and development due to cardiac failure. Mutants exhibit blood circulation, cardiac valve and ventricular septal abnormalities, edema, abdominal hemorrhage, and semilunar valveregurgitation. CLEC7A (Dectin-1) induces NFAT activation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0030178;negative regulation of Wnt signaling pathway;ISS|GO:0033173;calcineurin-NFAT signaling cascade;IDA|GO:0035556;intracellular signal transduction;IDA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;ISS|GO:0001085;RNA polymerase II transcription factor binding;ISS|GO:0001205;transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0001225;RNA polymerase II transcription coactivator binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;ISS|GO:0005515;protein binding;IPI|GO:0005528;FK506 binding;TAS|GO:0048273;mitogen-activated protein kinase p38 binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/NFATC1 https://www.uniprot.org/uniprot/O95644 https://www.ncbi.nlm.nih.gov/omim/?term=600489 http://www.informatics.jax.org/searchtool/Search.do?query=NFATC1&submit=Quick%0D%6514ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFATC1 rs754093 0.338858 0.3686 0.4172 0.46 6 13 exonic exonic exonic NFATC1 NFATC1 ENSG00000131196 nonsynonymous SNV nonsynonymous SNV unknown NFATC1:NM_172387:exon9:c.T2212G:p.C738G,NFATC1:NM_172388:exon8:c.T835G:p.C279G,NFATC1:NM_172389:exon9:c.T2212G:p.C738G,NFATC1:NM_001278673:exon8:c.T835G:p.C279G,NFATC1:NM_006162:exon9:c.T2251G:p.C751G,NFATC1:NM_001278669:exon9:c.T2251G:p.C751G, NFATC1:uc002lnd.3:exon9:c.T2251G:p.C751G,NFATC1:uc002lnf.3:exon9:c.T2212G:p.C738G,NFATC1:uc010xfj.2:exon8:c.T835G:p.C279G,NFATC1:uc010xfg.2:exon9:c.T2251G:p.C751G,NFATC1:uc002lne.3:exon8:c.T835G:p.C279G,NFATC1:uc002lng.3:exon9:c.T2212G:p.C738G, UNKNOWN Het;T>G 1209;104|63 Hom;T>G 3407;1|121 N N - 18 8786117 8786117 C CCCCA indel frameshift substitution 1429_1429delinsCCCCA SOGA2 rs555665585 0 0 0.0394 1 0 0 intronic exonic intronic MTCL1 SOGA2 ENSG00000168502 Na frameshift substitution Na Na SOGA2:uc010dkw.1:exon2:c.1429_1429delinsCCCCA, Na Het;+CCCA 706;4|23 Hom;+CCCA 631;3|18 N N - 18 9117867 9117867 T C snp nonsynonymous SNV T86C V29A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NDUFV2 Ndufv2 ENSG00000178127 NADH:ubiquinone oxidoreductase core subunit V2 chr18:9102628-9134343 The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009] schizophrenia; cognitive trait; drug-related genes ; Type 2 Diabetes| edema | rosiglitazone; bipolar disorder; Parkinson's disease; Aging/ Telomere Length; Bipolar Disorder; prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a transposon induced allele may exhibit embryonic lethality at E7. Complex I biogenesis GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0007399;nervous system development;IMP|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0048738;cardiac muscle tissue development;IMP|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0016020;membrane;IEA|GO:0043209;myelin sheath;IEA|GO:0070469;respiratory chain;IEA GO:0003954;NADH dehydrogenase activity;IEA|GO:0008137;NADH dehydrogenase (ubiquinone) activity;IEA|GO:0009055;electron carrier activity;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NDUFV2 https://hpo.jax.org/app/browse/search?q=NDUFV2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600532 http://www.informatics.jax.org/searchtool/Search.do?query=NDUFV2&submit=Quick%0D%14139ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFV2 rs906807 0.778954 0.7995 0.8001 0.23 3 13 exonic exonic exonic NDUFV2 NDUFV2 ENSG00000178127 nonsynonymous SNV nonsynonymous SNV unknown NDUFV2:NM_021074:exon2:c.T86C:p.V29A, NDUFV2:uc002knu.3:exon2:c.T86C:p.V29A, UNKNOWN Het;T>C 1077;71|56 Hom;T>C 3114;0|116 N N - 18 9255982 9255982 A G snp nonsynonymous SNV A2648G K883R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ANKRD12 Ankrd12 ENSG00000101745 ankyrin repeat domain 12 chr18:9136226-9285983 This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] Tobacco Use Disorder; Pancreatic Neoplasms GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA http://www.genecards.org/index.php?path=/Search/keyword/ANKRD12 https://www.uniprot.org/uniprot/Q6UB98 https://www.ncbi.nlm.nih.gov/omim/?term=610616 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD12&submit=Quick%0D%2775ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD12 rs4798791 0.613419 0.5453 0.6565 0.46 6 13 exonic exonic exonic ANKRD12 ANKRD12 ENSG00000101745 nonsynonymous SNV nonsynonymous SNV unknown ANKRD12:NM_001204056:exon8:c.A2648G:p.K883R,ANKRD12:NM_015208:exon9:c.A2717G:p.K906R,ANKRD12:NM_001083625:exon8:c.A2648G:p.K883R, ANKRD12:uc002knv.3:exon9:c.A2717G:p.K906R,ANKRD12:uc002knx.3:exon8:c.A2648G:p.K883R,ANKRD12:uc002knw.3:exon8:c.A2648G:p.K883R,ANKRD12:uc010dkx.1:exon4:c.A1838G:p.K613R, UNKNOWN Het;A>G 710;67|40 Hom;A>G 3575;0|129 N N - 19 1009365 1009365 T A snp nonsynonymous SNV T2896A Y966N aromatic,polar,hydrophobic polar,hydrophilic,neutral GRIN3B Grin3b ENSG00000116032 glutamate ionotropic receptor NMDA type subunit 3B chr19:1000418-1009731 The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015] Psychiatric Disorders; Alzheimer's disease ; Weight Gain Mice homozygous for a null allele show a mild impairment in motor learning or coordination, reduced home cage activity, a highly increased social interaction with familiar cagemates in their home cage but moderately increased anxiety-like behavior and reduced social interaction in a new environment. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;ISS|GO:0051205;protein insertion into membrane;ISS|GO:0051924;regulation of calcium ion transport;ISS|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0017146;NMDA selective glutamate receptor complex;ISS|GO:0030054;cell junction;IEA|GO:0043025;neuronal cell body;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA|GO:0005261;cation channel activity;ISS|GO:0005262;calcium channel activity;IEA|GO:0016594;glycine binding;ISS|GO:0030594;neurotransmitter receptor activity;ISS|GO:0042165;neurotransmitter binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/GRIN3B https://www.uniprot.org/uniprot/O60391 https://www.ncbi.nlm.nih.gov/omim/?term=606651 http://www.informatics.jax.org/searchtool/Search.do?query=GRIN3B&submit=Quick%0D%4694ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIN3B rs10417824 0.505591 0.3249 0.5227 0.08 1 12 exonic exonic exonic GRIN3B GRIN3B ENSG00000116032 nonsynonymous SNV nonsynonymous SNV unknown GRIN3B:NM_138690:exon9:c.T2896A:p.Y966N, GRIN3B:uc002lqo.1:exon9:c.T2896A:p.Y966N, UNKNOWN Het;T>A 112;7|7 Hom;T>A 497;0|19 N N - 19 10395683 10395683 A G snp nonsynonymous SNV A1405G K469E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) ICAM1 Icam1 ENSG00000090339 intercellular adhesion molecule 1 chr19:10381511-10397291 This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008] transplant associated vasculopathy after cardiac transplantation; Brain Ischemia|Stroke; Migraine Disorders; cerebrovascular disease; sickle cell anemia; inflammatory bowel disease ; Graves Disease|Graves' Disease; Intercellular Adhesion Molecule-1; myocardial infarct; hematology indices; coronary heart disease; myocardial infarction; diabetes, type 1 diabetic nephropathy; Arthritis, Rheumatoid|Rheumatoid Arthritis; arthritis, rheumatoid; erythema nodosum; Atherosclerosis; Coronary Artery Disease|; Erythema Nodosum|Sarcoidosis; Alzheimer's disease; Parkinson's disease; celiac disease; Arthritis, Rheumatoid; Behcets disease; Lymphoma, Large B-Cell, Diffuse; lung cancer; atherosclerosis, coronary; diabetes, type 1; null; bone density; benzene haematotoxicity; asthma; melanoma|Skin Neoplasms; Glomerulonephritis, IGA; colorectal cancer; multiple sclerosis; Malaria, Falciparum; Hypercholesterolemia|LDLC levels; Chronic renal failure|Kidney Failure, Chronic; Angina Pectoris; giant cell arteritis; graves' ophthalmopathy; Premature Birth; breast cancer ; Bleeding After Cardiac Surgery; Amyotrophic Lateral Sclerosis|; Alzheimer's disease; Vertebral Artery Dissection; arthritis; respiratory syncytial virus; esophageal cancer; atherosclerosis; Behcet Syndrome; Cardiovascular Diseases|Thrombosis; Arterial Occlusive Diseases; Hepatitis C|Remission, Spontaneous; Crohn's disease ulcerative colitis; vascular dementia; pancreatitis, chronic; allergies; common cold; Recurrence|Venous Thromboembolism; Peripheral Vascular Diseases; Biliary Atresia; renal allograft rejection; Multiple Sclerosis; Cardiovascular Diseases|; Kidney Failure, Chronic; Insulin Resistance|Metabolic Syndrome X; Inflammation|Venous Thromboembolism; respiratory syncytial virus bronchiolitis; Endometriosis; Coronary Disease|Coronary heart disease; Uveitis, Anterior; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Arthritis, Rheumatoid|; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; inflammatory bowel disease; Astrocytoma; pulse wave velocity; periodontitis; Lymphoma, Non-Hodgkin; renal scarring urinary tract infection; Kidney Diseases; Polymyalgia Rheumatica|Recurrence|Vasculitis; retinopathy, diabetic; Leukemia, Promyelocytic, Acute|Syndrome; Chlamydia Infections|Inflammation|Trachoma; HIV; Albuminuria|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance; malaria; Graves' disease; Crohn's disease; ulcerative colitis; Dengue Hemorrhagic Fever; Arterial Occlusive Diseases|Diabetes Complications|Myocardial Infarction|Peripheral Arterial Disease|Peripheral Arterial Diseases; polymyalgia rheumatica/giant cell arteritis; chronic obstructive pulmonary disease; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Restenosis; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Adult Respiratory Distress Syndrome|Community-Acquired Infections|Pneumonia|Respiratory Distress Syndrome, Adult|Septic Shock|Shock, Septic; schizophrenia; soluble ICAM-1; gastroschisis; Gastrointestinal Hemorrhage|Henoch-Schoenlein Purpura|Kidney Diseases|Purpura, Schoenlein-Henoch|Vasculitis; Q fever; Pseudoxanthoma Elasticum; TPA-induced apoptosis; Thrombosis; restenosis; Type 2 diabetes; Coronary Artery Disease|Inflammation; bladder cancer; stroke, ischemic; Myocardial Infarction; Coronary Disease; Acute Coronary Syndrome|; Leukemia, Lymphocytic, Chronic, B-Cell; Cholangitis, Sclerosing; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Diabetes Mellitus, Type 1|Diabetic Nephropathies|; Stroke; bone marrow transplantation; Atherosclerosis|Obesity; Multiple Myeloma; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Alzheimer's Disease; Crohn's disease; Malaria; thrombosis, venous; Alzheimer's disease ; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Retinopathy; dementia, vascular; coronary heart disease, transplant associated; cholangitis, sclerosing; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Fibrosis|Hepatitis B, Chronic; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; malignant melanoma; prostate cancer; Meningeal Neoplasms|meningioma; lung cancer ; epithelial ovarian cancer ; Type 2 Diabetes| edema | rosiglitazone; multiple system atrophy; Biliary Atresia|; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Brain Ischemia|Inflammation|Stroke; diabetes, type 2; endometriosis; Cardiovascular Diseases; Coronary Artery Disease|Myocardial Infarction Homozygous mutation of this gene results in impaired inflammatory and immune responses. Interferon gamma signaling GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001910;regulation of leukocyte mediated cytotoxicity;TAS|GO:0001975;response to amphetamine;IEA|GO:0002291;T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell;IMP|GO:0002438;acute inflammatory response to antigenic stimulus;IEA|GO:0002457;T cell antigen processing and presentation;IEA|GO:0002693;positive regulation of cellular extravasation;IMP|GO:0007155;cell adhesion;IDA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;TAS|GO:0007159;leukocyte cell-cell adhesion;IMP|GO:0007569;cell aging;IEA|GO:0007605;sensory perception of sound;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010477;response to sulfur dioxide;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016032;viral process;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022614;membrane to membrane docking;IEP|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0031669;cellular response to nutrient levels;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0034698;response to gonadotropin;IEA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044406;adhesion of symbiont to host;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045471;response to ethanol;IEA|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0046688;response to copper ion;IEA|GO:0046718;viral entry into host cell;IEA|GO:0046813;receptor-mediated virion attachment to host cell;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;IEP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051926;negative regulation of calcium ion transport;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0061028;establishment of endothelial barrier;IGI|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071312;cellular response to alkaloid;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071346;cellular response to interferon-gamma;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090557;establishment of endothelial intestinal barrier;IEA|GO:0097368;establishment of Sertoli cell barrier;IEA|GO:1900027;regulation of ruffle assembly;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:1904996;positive regulation of leukocyte adhesion to vascular endothelial cell;IEA|GO:2000352;negative regulation of endothelial cell apoptotic process;IDA GO:0001772;immunological synapse;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005178;integrin binding;IDA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ICAM1 https://www.uniprot.org/uniprot/P05362 https://www.ncbi.nlm.nih.gov/omim/?term=147840 http://www.informatics.jax.org/searchtool/Search.do?query=ICAM1&submit=Quick%0D%2094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ICAM1 rs5498 0.358826 0.3504 0.4281 0.08 1 13 exonic exonic exonic ICAM1 ICAM1 ENSG00000090339 nonsynonymous SNV nonsynonymous SNV unknown ICAM1:NM_000201:exon6:c.A1405G:p.K469E, ICAM1:uc002mnq.2:exon6:c.A1405G:p.K469E,ICAM1:uc010xle.1:exon4:c.A739G:p.K247E, UNKNOWN Het;A>G 1367;87|68 Hom;A>G 3148;0|120 N N - 19 10742170 10742170 A G snp nonsynonymous SNV A455G Q152R polar,hydrophilic,neutral polar,hydrophilic,charged(+) SLC44A2 Slc44a2 ENSG00000129353 solute carrier family 44 member 2 chr19:10713133-10755235 Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss. Neutrophil degranulation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2 https://www.uniprot.org/uniprot/Q8IWA5 https://www.ncbi.nlm.nih.gov/omim/?term=606106 http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2 rs2288904 0.817292 0.8365 0.8041 0.15 2 13 exonic exonic exonic SLC44A2 SLC44A2 ENSG00000129353 nonsynonymous SNV nonsynonymous SNV unknown SLC44A2:NM_001145056:exon7:c.A455G:p.Q152R,SLC44A2:NM_020428:exon7:c.A461G:p.Q154R, SLC44A2:uc002mpf.3:exon7:c.A461G:p.Q154R,SLC44A2:uc002mpe.4:exon7:c.A455G:p.Q152R, UNKNOWN Het;A>G 1230;56|55 Hom;A>G 2730;0|100 N N - 19 11411868 11411868 C A snp nonsynonymous SNV G179T R60I polar,hydrophilic,charged(+) aliphatic,hydrophobic,neutral AF161365 rs420703 0.456869 0.4653 0.3637 1 0 0 intronic exonic ncRNA_exonic TSPAN16 AF161365 ENSG00000267174 Na nonsynonymous SNV Na Na AF161365:uc002mqw.2:exon3:c.G179T:p.R60I, Na Het;C>A 900;34|45 Hom;C>A 2255;1|87 N N - 19 11526759 11526759 G A snp nonsynonymous SNV C491T A164V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RGL3 Rgl3 ENSG00000205517 ral guanine nucleotide dissociation stimulator like 3 chr19:11495017-11530018 Type 2 Diabetes| edema | rosiglitazone GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008321;Ral guanyl-nucleotide exchange factor activity;IEA|GO:0017016;Ras GTPase binding;IEA|GO:0031267;small GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RGL3 https://www.ncbi.nlm.nih.gov/omim/?term=616743 http://www.informatics.jax.org/searchtool/Search.do?query=RGL3&submit=Quick%0D%17527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGL3 rs160838 0.639177 0.6084 0.6067 0.23 3 13 exonic exonic exonic RGL3 RGL3 ENSG00000205517 nonsynonymous SNV nonsynonymous SNV unknown RGL3:NM_001161616:exon5:c.C491T:p.A164V,RGL3:NM_001035223:exon5:c.C491T:p.A164V, RGL3:uc002mrp.2:exon5:c.C491T:p.A164V,RGL3:uc002mro.2:exon5:c.C491T:p.A164V, UNKNOWN Het;G>A 696;21|33 Hom;G>A 1500;0|59 N N - 19 1231142 1231142 T C snp nonsynonymous SNV A1112G H371R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) C19orf26 rs8110590 0.651358 0.5207 0.5551 0.08 1 12 exonic exonic exonic C19orf26 C19orf26 ENSG00000099625 nonsynonymous SNV nonsynonymous SNV unknown C19orf26:NM_152769:exon9:c.A1112G:p.H371R, C19orf26:uc002lrm.3:exon9:c.A1112G:p.H371R, UNKNOWN Het;T>C 1058;60|51 Hom;T>C 2478;0|89 N N - 19 13010520 13010520 A G snp nonsynonymous SNV A1250G Q417R polar,hydrophilic,neutral polar,hydrophilic,charged(+) GCDH Gcdh ENSG00000105607 glutaryl-CoA dehydrogenase chr19:13001840-13025021 The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013] free glutarate excretion; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Indices; mean corpuscular hemoglobin; Acquired Immunodeficiency Syndrome|Disease Progression Homozygotes for a targeted null mutation exhibit a mild motor deficit associated with a diffuse spongiform myelinopathy and elevated levels of glutaric acid and 3-hydroxyglutaric acid. Lysine catabolism GO:0006554;lysine catabolic process;TAS|GO:0006568;tryptophan metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0019395;fatty acid oxidation;IEA|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IDA|GO:0046949;fatty-acyl-CoA biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS GO:0000062;fatty-acyl-CoA binding;IEA|GO:0003995;acyl-CoA dehydrogenase activity;IEA|GO:0004361;glutaryl-CoA dehydrogenase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GCDH https://www.uniprot.org/uniprot/Q92947 https://hpo.jax.org/app/browse/search?q=GCDH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608801 http://www.informatics.jax.org/searchtool/Search.do?query=GCDH&submit=Quick%0D%3338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCDH rs8012 0.720447 0.6389 0.6130 1 0 0 exonic exonic exonic GCDH GCDH ENSG00000105607 nonsynonymous SNV nonsynonymous SNV unknown GCDH:NM_013976:exon12:c.A1250G:p.Q417R, GCDH:uc002mvp.4:exon12:c.A1250G:p.Q417R, UNKNOWN Het;A>G 862;41|39 Hom;A>G 2789;0|96 N N - 19 1388538 1388538 C T snp nonsynonymous SNV C68T P23L hydrophobic,neutral aliphatic,hydrophobic,neutral NDUFS7 Ndufs7 ENSG00000115286 NADH:ubiquinone oxidoreductase core subunit S7 chr19:1383526-1395583 This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; cognitive trait; Aging/ Telomere Length; Stroke Complex I biogenesis GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0070469;respiratory chain;IEA|GO:0097060;synaptic membrane;IEA GO:0002020;protease binding;IEA|GO:0003954;NADH dehydrogenase activity;IEA|GO:0005515;protein binding;IPI|GO:0008137;NADH dehydrogenase (ubiquinone) activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016655;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;NAS|GO:0046872;metal ion binding;IEA|GO:0048038;quinone binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NDUFS7 https://www.uniprot.org/uniprot/O75251 https://hpo.jax.org/app/browse/search?q=NDUFS7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601825 http://www.informatics.jax.org/searchtool/Search.do?query=NDUFS7&submit=Quick%0D%4576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFS7 rs1142530 0.455671 0.5406 0.5502 0.08 1 12 exonic exonic exonic NDUFS7 NDUFS7 ENSG00000115286 nonsynonymous SNV nonsynonymous SNV unknown NDUFS7:NM_024407:exon3:c.C68T:p.P23L, NDUFS7:uc002lse.4:exon3:c.C68T:p.P23L,NDUFS7:uc002lsh.3:exon3:c.C260T:p.P87L,NDUFS7:uc002lsf.2:exon4:c.C260T:p.P87L, UNKNOWN Het;C>T 524;17|26 Hom;C>T 1258;0|47 N N - 19 14758168 14758168 G A snp nonsynonymous SNV C329T A110V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ADGRE3 rs34226397 0.298123 0.3268 0.2858 0.25 3 12 exonic exonic exonic ADGRE3 EMR3 ENSG00000131355 nonsynonymous SNV nonsynonymous SNV unknown ADGRE3:NM_001289159:exon5:c.C329T:p.A110V,ADGRE3:NM_032571:exon8:c.C707T:p.A236V,ADGRE3:NM_001289158:exon7:c.C551T:p.A184V, EMR3:uc010dzp.3:exon7:c.C551T:p.A184V,EMR3:uc010xnv.2:exon5:c.C329T:p.A110V,EMR3:uc002mzi.4:exon8:c.C707T:p.A236V, UNKNOWN Het;G>A 347;12|16 Hom;G>A 539;0|20 N N - 19 14769339 14769339 C G snp nonsynonymous SNV G379C E127Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral ADGRE3 rs4606855 0.855831 0.7931 0.7747 0.08 1 12 exonic exonic exonic ADGRE3 EMR3 ENSG00000131355 nonsynonymous SNV nonsynonymous SNV unknown ADGRE3:NM_032571:exon5:c.G379C:p.E127Q,ADGRE3:NM_001289158:exon4:c.G223C:p.E75Q, EMR3:uc010dzp.3:exon4:c.G223C:p.E75Q,EMR3:uc002mzi.4:exon5:c.G379C:p.E127Q, UNKNOWN Het;C>G 300;27|18 Hom;C>G 516;0|22 N N - 19 17004049 17004049 T C snp nonsynonymous SNV A5669G Q1890R polar,hydrophilic,neutral polar,hydrophilic,charged(+) CPAMD8 ENSG00000160111 C3 and PZP like, alpha-2-macroglobulin domain containing 8 chr19:17003758-17137625 CPAMD8 belongs to the complement component-3 (C3; MIM 120700)/alpha-2-macroglobulin (A2M; MIM 103950) family of proteins, which are involved in innate immunity and damage control. Complement components recognize and eliminate pathogens by direct binding or by mediating opsonization/phagocytosis and intracellular killing, and A2M is a broad-spectrum protease inhibitor (Li et al., 2004 [PubMed 15177561]).[supplied by OMIM, Mar 2008] Type 2 Diabetes| edema | rosiglitazone; Brain lesion load; Multiple Sclerosis GO:0001654;eye development;IMP|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0004866;endopeptidase inhibitor activity;IEA|GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPAMD8 https://hpo.jax.org/app/browse/search?q=CPAMD8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608841 http://www.informatics.jax.org/searchtool/Search.do?query=CPAMD8&submit=Quick%0D%10402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPAMD8 rs1054533 0.211462 0.2682 0.3688 0.10 1 10 exonic exonic exonic CPAMD8 CPAMD8 ENSG00000160111 nonsynonymous SNV nonsynonymous SNV unknown CPAMD8:NM_015692:exon42:c.A5669G:p.Q1890R, CPAMD8:uc002nfb.3:exon42:c.A5669G:p.Q1890R, UNKNOWN Het;T>C 765;44|41 Hom;T>C 1841;2|73 N N - 19 17170885 17170885 C T snp nonsynonymous SNV G247A G83R aliphatic,neutral polar,hydrophilic,charged(+) HAUS8 Haus8 ENSG00000131351 HAUS augmin like complex subunit 8 chr19:17160539-17186435 HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007098;centrosome cycle;IMP|GO:0051225;spindle assembly;IMP|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0070652;HAUS complex;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/HAUS8 https://www.uniprot.org/uniprot/Q9BT25 https://www.ncbi.nlm.nih.gov/omim/?term=613434 http://www.informatics.jax.org/searchtool/Search.do?query=HAUS8&submit=Quick%0D%6524ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAUS8 rs1130222 0.471246 0.4322 0.4658 0.23 3 13 exonic exonic exonic HAUS8 HAUS8 ENSG00000131351 nonsynonymous SNV nonsynonymous SNV unknown HAUS8:NM_033417:exon5:c.G247A:p.G83R,HAUS8:NM_001011699:exon5:c.G244A:p.G82R, HAUS8:uc002nfe.3:exon5:c.G247A:p.G83R,HAUS8:uc002nff.3:exon5:c.G244A:p.G82R, UNKNOWN Het;C>T 1248;78|65 Hom;C>T 3634;0|141 N N - 19 17303774 17303774 T G snp nonsynonymous SNV T3031G S1011A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral MYO9B Myo9b ENSG00000099331 myosin IXB chr19:17186591-17325346 This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis. Regulation of actin dynamics for phagocytic cup formation GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MYO9B https://www.uniprot.org/uniprot/Q13459 https://www.ncbi.nlm.nih.gov/omim/?term=602129 http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B rs1545620 0.644369 0.5247 0.5490 0.08 1 13 exonic exonic exonic MYO9B MYO9B ENSG00000099331 nonsynonymous SNV nonsynonymous SNV unknown MYO9B:NM_001130065:exon21:c.T3031G:p.S1011A,MYO9B:NM_004145:exon21:c.T3031G:p.S1011A, MYO9B:uc010eak.3:exon21:c.T3031G:p.S1011A,MYO9B:uc002nfj.1:exon20:c.T3031G:p.S1011A,MYO9B:uc002nfi.3:exon21:c.T3031G:p.S1011A, UNKNOWN Het;T>G 1477;63|69 Hom;T>G 3543;2|130 N N - 19 17316782 17316782 T C snp nonsynonymous SNV T5078C V1693A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MYO9B Myo9b ENSG00000099331 myosin IXB chr19:17186591-17325346 This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] celiac disease lupus erythematosus rheumatoid arthritis; Crohn's disease ulcerative colitis; Schizophrenia; Celiac Disease; Multiple Sclerosis; Crohn Disease; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Celiac Disease|Dermatitis Herpetiformis|Inflammatory Bowel Diseases; Celiac Disease|Down Syndrome; Celiac Disease|; diabetes, type 1 ; celiac disease; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; coronary spastic angina Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis. Regulation of actin dynamics for phagocytic cup formation GO:0007165;signal transduction;IEA|GO:0007266;Rho protein signal transduction;IC|GO:0030048;actin filament-based movement;IDA|GO:0035023;regulation of Rho protein signal transduction;IMP|GO:0035385;Roundabout signaling pathway;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005938;cell cortex;IDA|GO:0015629;actin cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016459;myosin complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000146;microfilament motor activity;IDA|GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IDA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0005524;ATP binding;IDA|GO:0016887;ATPase activity;IDA|GO:0017048;Rho GTPase binding;IPI|GO:0043531;ADP binding;IDA|GO:0046872;metal ion binding;IEA|GO:0048495;Roundabout binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MYO9B https://www.uniprot.org/uniprot/Q13459 https://www.ncbi.nlm.nih.gov/omim/?term=602129 http://www.informatics.jax.org/searchtool/Search.do?query=MYO9B&submit=Quick%0D%2311ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO9B rs7248508 0.631589 0.4809 0.5198 0.31 4 13 exonic exonic exonic MYO9B MYO9B ENSG00000099331 nonsynonymous SNV nonsynonymous SNV unknown MYO9B:NM_001130065:exon32:c.T5078C:p.V1693A,MYO9B:NM_004145:exon32:c.T5078C:p.V1693A, MYO9B:uc010eak.3:exon32:c.T5078C:p.V1693A,MYO9B:uc002nfj.1:exon31:c.T5078C:p.V1693A,MYO9B:uc002nfi.3:exon32:c.T5078C:p.V1693A, UNKNOWN Het;T>C 641;19|31 Hom;T>C 1543;0|55 N N - 19 17367435 17367435 T C snp nonsynonymous SNV A1123G M375V hydrophobic,neutral aliphatic,hydrophobic,neutral USHBP1 Ushbp1 ENSG00000130307 USH1 protein network component harmonin binding protein 1 chr19:17359985-17393595 GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/USHBP1 https://www.uniprot.org/uniprot/Q8N6Y0 https://www.ncbi.nlm.nih.gov/omim/?term=611810 http://www.informatics.jax.org/searchtool/Search.do?query=USHBP1&submit=Quick%0D%6351ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USHBP1 rs9676419 0.329473 0.2949 0.2649 0.08 1 13 exonic exonic exonic USHBP1 USHBP1 ENSG00000130307 nonsynonymous SNV nonsynonymous SNV unknown USHBP1:NM_001297703:exon8:c.A1123G:p.M375V,USHBP1:NM_031941:exon9:c.A1315G:p.M439V, USHBP1:uc002nfr.1:exon2:c.A193G:p.M65V,USHBP1:uc002nfs.1:exon9:c.A1315G:p.M439V,USHBP1:uc010xpk.1:exon8:c.A1123G:p.M375V, UNKNOWN Het;T>C 892;53|44 Hom;T>C 2353;4|91 N N - 19 18180413 18180413 C G snp nonsynonymous SNV G1132C G378R aliphatic,neutral polar,hydrophilic,charged(+) IL12RB1 Il12rb1 ENSG00000096996 interleukin 12 receptor subunit beta 1 chr19:18169805-18209754 The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12. Interleukin-12 family signaling GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1 https://www.uniprot.org/uniprot/P42701 https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601604 http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1 rs401502 0.251597 0.2726 0.2841 0.09 1 11 exonic exonic exonic IL12RB1 IL12RB1 ENSG00000096996 nonsynonymous SNV nonsynonymous SNV unknown IL12RB1:NM_005535:exon10:c.G1132C:p.G378R,IL12RB1:NM_001290023:exon10:c.G1132C:p.G378R,IL12RB1:NM_001290024:exon11:c.G1252C:p.G418R, IL12RB1:uc002nhw.1:exon10:c.G1132C:p.G378R,IL12RB1:uc010xqb.1:exon10:c.G1132C:p.G378R,IL12RB1:uc002nhx.1:exon11:c.G1252C:p.G418R, UNKNOWN Het;C>G 742;36|36 Hom;C>G 1469;4|62 N N - 19 18180451 18180451 A G snp nonsynonymous SNV T1094C M365T hydrophobic,neutral polar,hydrophilic,neutral IL12RB1 Il12rb1 ENSG00000096996 interleukin 12 receptor subunit beta 1 chr19:18169805-18209754 The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12. Interleukin-12 family signaling GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1 https://www.uniprot.org/uniprot/P42701 https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601604 http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1 rs375947 0.26857 0.2934 0.2894 0.09 1 11 exonic exonic exonic IL12RB1 IL12RB1 ENSG00000096996 nonsynonymous SNV nonsynonymous SNV unknown IL12RB1:NM_005535:exon10:c.T1094C:p.M365T,IL12RB1:NM_001290023:exon10:c.T1094C:p.M365T,IL12RB1:NM_001290024:exon11:c.T1214C:p.M405T, IL12RB1:uc002nhw.1:exon10:c.T1094C:p.M365T,IL12RB1:uc010xqb.1:exon10:c.T1094C:p.M365T,IL12RB1:uc002nhx.1:exon11:c.T1214C:p.M405T, UNKNOWN Het;A>G 792;49|42 Hom;A>G 1762;2|69 N N - 19 18186618 18186618 T C snp nonsynonymous SNV A641G Q214R polar,hydrophilic,neutral polar,hydrophilic,charged(+) IL12RB1 Il12rb1 ENSG00000096996 interleukin 12 receptor subunit beta 1 chr19:18169805-18209754 The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12. Interleukin-12 family signaling GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1 https://www.uniprot.org/uniprot/P42701 https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601604 http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1 rs11575934 0.229433 0.2532 0.2771 0.08 1 12 exonic exonic exonic IL12RB1 IL12RB1 ENSG00000096996 nonsynonymous SNV nonsynonymous SNV unknown IL12RB1:NM_005535:exon7:c.A641G:p.Q214R,IL12RB1:NM_001290023:exon7:c.A641G:p.Q214R,IL12RB1:NM_001290024:exon8:c.A761G:p.Q254R,IL12RB1:NM_153701:exon7:c.A641G:p.Q214R, IL12RB1:uc002nhw.1:exon7:c.A641G:p.Q214R,IL12RB1:uc010xqb.1:exon7:c.A641G:p.Q214R,IL12RB1:uc002nhy.3:exon7:c.A641G:p.Q214R,IL12RB1:uc002nhx.1:exon8:c.A761G:p.Q254R, UNKNOWN Het;T>C 993;43|48 Hom;T>C 2463;0|93 N N - 19 18197635 18197635 G A snp nonsynonymous SNV C119T P40L hydrophobic,neutral aliphatic,hydrophobic,neutral IL12RB1 Il12rb1 ENSG00000096996 interleukin 12 receptor subunit beta 1 chr19:18169805-18209754 The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12. Interleukin-12 family signaling GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1 https://www.uniprot.org/uniprot/P42701 https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601604 http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1 rs436857 0.127596 0.1754 0.1996 1 0 0 exonic exonic UTR5 IL12RB1 IL12RB1 ENSG00000096996(ENST00000600835:c.-2C>T,ENST00000593993:c.-2C>T,ENST00000322153:c.-2C>T,ENST00000430026:c.-2C>T,ENST00000598019:c.-2C>T,ENST00000594176:c.-2C>T) nonsynonymous SNV nonsynonymous SNV Na IL12RB1:NM_001290024:exon2:c.C119T:p.P40L, IL12RB1:uc002nhx.1:exon2:c.C119T:p.P40L, Na Het;G>A 1501;54|71 Hom;G>A 3188;0|120 N N - 19 18197744 18197744 T A snp splicing 12-2A>T IL12RB1 Il12rb1 ENSG00000096996 interleukin 12 receptor subunit beta 1 chr19:18169805-18209754 The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; tuberculosis; Type 2 Diabetes| edema | rosiglitazone; benzene haematotoxicity; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; measles vaccine immunity; Anemia|Malaria; asthma; atopic dermatitis; esophageal adenocarcinoma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; panencephalitis, subacute sclerosing; respiratory syncytial virus bronchiolitis; Lymphadenitis|Mycobacterium Infections|Periodontitis; sarcoidosis; tuberculosis; Crohn Disease|; lung cancer ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; atopic dermatitis; lung cancer; Celiac Disease|; hepatitis C; Precursor Cell Lymphoblastic Leukemia-Lymphoma; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; diabetes, type 1; psoriasis; leiomyoma; lupus erythematosus; lupus nephritis; Lung Diseases|Mycobacterium avium-intracellulare Infection|Mycobacterium Infections, Atypical; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; hepatocellular carcinoma; leprosy; asthma; diabetes, type 1; Multiple Myeloma; Tuberculosis; Severe Acute Respiratory Syndrome; rheumatoid arthritis; Hyperparathyroidism, Secondary Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12. Interleukin-12 family signaling GO:0001916;positive regulation of T cell mediated cytotoxicity;ISS|GO:0002230;positive regulation of defense response to virus by host;IDA|GO:0002827;positive regulation of T-helper 1 type immune response;IDA|GO:0007165;signal transduction;IC|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IDA|GO:0035722;interleukin-12-mediated signaling pathway;IEA|GO:0038155;interleukin-23-mediated signaling pathway;IEA|GO:0042104;positive regulation of activated T cell proliferation;IDA|GO:0043382;positive regulation of memory T cell differentiation;ISS|GO:0071346;cellular response to interferon-gamma;IDA|GO:2000318;positive regulation of T-helper 17 type immune response;ISS|GO:2000330;positive regulation of T-helper 17 cell lineage commitment;ISS GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042022;interleukin-12 receptor complex;IDA|GO:0072536;interleukin-23 receptor complex;IDA GO:0004896;cytokine receptor activity;TAS|GO:0005143;interleukin-12 receptor binding;IPI|GO:0016517;interleukin-12 receptor activity;IDA|GO:0019955;cytokine binding;IEA|GO:0042019;interleukin-23 binding;IPI|GO:0042020;interleukin-23 receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/IL12RB1 https://www.uniprot.org/uniprot/P42701 https://hpo.jax.org/app/browse/search?q=IL12RB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601604 http://www.informatics.jax.org/searchtool/Search.do?query=IL12RB1&submit=Quick%0D%2290ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL12RB1 rs393548 0.181909 0 0.2261 1 0 0 splicing splicing splicing IL12RB1(NM_001290024:exon2:c.12-2A>T) IL12RB1(uc002nhx.1:exon2:c.12-2A>T) ENSG00000096996 Na Na Na Na Na Na Het;T>A 891;27|38 Hom;T>A 1969;0|70 N N - 19 18285944 18285944 G A snp nonsynonymous SNV G227A R76Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral IFI30 Ifi30 ENSG00000216490 IFI30, lysosomal thiol reductase chr19:18283972-18288927 The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008] Celiac Disease| No phenotypic abormalities have been reported in mice homozygous for disruptions in this gene other than reduced efficiency in processing some antigens. Interferon gamma signaling GO:0002376;immune system process;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0042590;antigen processing and presentation of exogenous peptide antigen via MHC class I;ISS|GO:0055114;oxidation-reduction process;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;IDA|GO:0030054;cell junction;IDA|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016667;oxidoreductase activity, acting on a sulfur group of donors;IMP http://www.genecards.org/index.php?path=/Search/keyword/IFI30 https://www.ncbi.nlm.nih.gov/omim/?term=604664 http://www.informatics.jax.org/searchtool/Search.do?query=IFI30&submit=Quick%0D%18368ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFI30 rs11554159 0.181709 0.2442 0.2554 0.64 7 11 exonic exonic exonic IFI30 IFI30 ENSG00000216490 nonsynonymous SNV nonsynonymous SNV unknown IFI30:NM_006332:exon2:c.G227A:p.R76Q, IFI30:uc002nic.1:exon2:c.G227A:p.R76Q, UNKNOWN Het;G>A 1359;61|66 Hom;G>A 2826;0|101 N N - 19 18304700 18304700 A G snp nonsynonymous SNV A214G M72V hydrophobic,neutral aliphatic,hydrophobic,neutral MPV17L2 Mpv17l2 ENSG00000254858 MPV17 mitochondrial inner membrane protein like 2 chr19:18303992-18307758 Acquired Immunodeficiency Syndrome|Disease Progression; Multiple Sclerosis GO:0061668;mitochondrial ribosome assembly;IMP|GO:0070131;positive regulation of mitochondrial translation;IMP GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MPV17L2 https://www.ncbi.nlm.nih.gov/omim/?term=616133 http://www.informatics.jax.org/searchtool/Search.do?query=MPV17L2&submit=Quick%0D%20089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPV17L2 rs874628 0.17472 0.2478 0.2345 0.64 7 11 exonic exonic exonic MPV17L2 MPV17L2 ENSG00000254858 nonsynonymous SNV nonsynonymous SNV unknown MPV17L2:NM_032683:exon2:c.A214G:p.M72V, MPV17L2:uc010ebj.3:exon1:c.A22G:p.M8V,MPV17L2:uc002nid.3:exon2:c.A214G:p.M72V, UNKNOWN Het;A>G 318;13|17 Hom;A>G 752;0|29 N N - 19 18305824 18305824 C T snp nonsynonymous SNV C223T P75S hydrophobic,neutral polar,hydrophilic,neutral MPV17L2 Mpv17l2 ENSG00000254858 MPV17 mitochondrial inner membrane protein like 2 chr19:18303992-18307758 Acquired Immunodeficiency Syndrome|Disease Progression; Multiple Sclerosis GO:0061668;mitochondrial ribosome assembly;IMP|GO:0070131;positive regulation of mitochondrial translation;IMP GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MPV17L2 https://www.ncbi.nlm.nih.gov/omim/?term=616133 http://www.informatics.jax.org/searchtool/Search.do?query=MPV17L2&submit=Quick%0D%20089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPV17L2 rs2271881 0.244808 0.3237 0.3024 1 0 0 exonic exonic exonic MPV17L2 MPV17L2 ENSG00000254858 synonymous SNV nonsynonymous SNV unknown MPV17L2:NM_032683:exon4:c.C492T:p.P164P, MPV17L2:uc010ebj.3:exon2:c.C223T:p.P75S, UNKNOWN Het;C>T 575;65|32 Hom;C>T 2362;0|90 N N - 19 2251817 2251817 T C snp nonsynonymous SNV T1544C V515A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral AMH Amh ENSG00000104899 anti-Mullerian hormone chr19:2249308-2252072 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016] thyroid cancer; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; polycystic ovary syndrome; premature ovarian failure; Polycystic Ovary Syndrome; female infertility; epithelial ovarian cancer Homozygous null mutant males have a complete male reproductive tract and functional sperm, but also uterus and oviducts. Most are infertile due to female organs blocking sperm transfer. Females are fertile with enlarged ovaries and atypical follicles. Signaling by BMP GO:0001546;preantral ovarian follicle growth;IEA|GO:0001655;urogenital system development;IEA|GO:0001880;Mullerian duct regression;IDA|GO:0007267;cell-cell signaling;TAS|GO:0007506;gonadal mesoderm development;IEA|GO:0007530;sex determination;TAS|GO:0007548;sex differentiation;TAS|GO:0007568;aging;IEA|GO:0008406;gonad development;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014070;response to organic cyclic compound;IEA|GO:0030154;cell differentiation;IEA|GO:0030509;BMP signaling pathway;TAS|GO:0042493;response to drug;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:2000355;negative regulation of ovarian follicle development;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS GO:0005102;receptor binding;IPI|GO:0005160;transforming growth factor beta receptor binding;IEA|GO:0005179;hormone activity;TAS|GO:0008083;growth factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AMH https://www.uniprot.org/uniprot/P03971 https://hpo.jax.org/app/browse/search?q=AMH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600957 http://www.informatics.jax.org/searchtool/Search.do?query=AMH&submit=Quick%0D%3198ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AMH rs10417628 0.990016 0.9820 0.9799 0.08 1 13 exonic exonic exonic AMH AMH ENSG00000104899 nonsynonymous SNV nonsynonymous SNV unknown AMH:NM_000479:exon5:c.T1544C:p.V515A, AMH:uc002lvh.2:exon5:c.T1544C:p.V515A, UNKNOWN Het;T>C 711;56|36 Hom;T>C 2602;1|97 N N - 19 2939396 2939396 T C snp nonsynonymous SNV A13G I5V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF77 ENSG00000175691 zinc finger protein 77 chr19:2933216-2944969 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF77 https://www.ncbi.nlm.nih.gov/omim/?term=194551 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF77&submit=Quick%0D%13739ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF77 rs12609268 0.176118 0.1168 0.1359 0.08 1 12 exonic exonic exonic ZNF77 ZNF77 ENSG00000175691 nonsynonymous SNV nonsynonymous SNV unknown ZNF77:NM_021217:exon2:c.A13G:p.I5V, ZNF77:uc002lws.4:exon2:c.A13G:p.I5V, UNKNOWN Het;T>C 1362;62|39 Hom;T>C 1657;2|41 N N - 19 2939401 2939401 C G snp nonsynonymous SNV G8C C3S polar,hydrophobic,neutral polar,hydrophilic,neutral ZNF77 ENSG00000175691 zinc finger protein 77 chr19:2933216-2944969 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF77 https://www.ncbi.nlm.nih.gov/omim/?term=194551 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF77&submit=Quick%0D%13739ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF77 rs12610412 0.176118 0.1167 0.1358 0.08 1 12 exonic exonic exonic ZNF77 ZNF77 ENSG00000175691 nonsynonymous SNV nonsynonymous SNV unknown ZNF77:NM_021217:exon2:c.G8C:p.C3S, ZNF77:uc002lws.4:exon2:c.G8C:p.C3S, UNKNOWN Het;C>G 1341;61|36 Hom;C>G 1657;2|38 N N - 19 35551225 35551225 G GC indel frameshift substitution 81_81delinsGC HPN Hpn ENSG00000105707 hepsin chr19:35531410-35557475 This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Aneurysm, Ruptured|Aortic Aneurysm, Abdominal|Intracranial Aneurysm|Subarachnoid Hemorrhage; prostate cancer Mice homozygous for a null mutation are hypothyroidic and develop profound hearing loss associated with structural changes in the tectorial membrane and a myelination defect affecting the compaction of spiral ganglion neurons. Signaling by MST1 GO:0006508;proteolysis;IEA|GO:0008360;regulation of cell shape;IMP|GO:0010628;positive regulation of gene expression;ISS|GO:0010719;negative regulation of epithelial to mesenchymal transition;IDA|GO:0010756;positive regulation of plasminogen activation;IDA|GO:0030307;positive regulation of cell growth;IMP|GO:0034769;basement membrane disassembly;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043923;positive regulation by host of viral transcription;IDA|GO:0048012;hepatocyte growth factor receptor signaling pathway;TAS|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;ISS|GO:0071805;potassium ion transmembrane transport;ISS|GO:0090103;cochlea morphogenesis;ISS|GO:0097066;response to thyroid hormone;ISS|GO:0097195;pilomotor reflex;ISS|GO:2000347;positive regulation of hepatocyte proliferation;IDA|GO:2000611;positive regulation of thyroid hormone generation;ISS GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005911;cell-cell junction;ISS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0043025;neuronal cell body;ISS|GO:0070062;extracellular exosome;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;TAS|GO:0015269;calcium-activated potassium channel activity;ISS|GO:0016787;hydrolase activity;IEA|GO:0070008;serine-type exopeptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HPN https://www.uniprot.org/uniprot/P05981 https://www.ncbi.nlm.nih.gov/omim/?term=142440 http://www.informatics.jax.org/searchtool/Search.do?query=HPN&submit=Quick%0D%3374ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPN rs3830343 0.122404 0.1324 0.1229 1 0 0 ncRNA_intronic exonic ncRNA_intronic HPN-AS1 HPN ENSG00000227392 Na frameshift substitution Na Na HPN:uc002nxt.1:exon2:c.81_81delinsGC, Na Het;+C 560;33|25 Hom;+C 1176;0|38 N N - 19 36168914 36168914 T C snp nonsynonymous SNV T770C M257T hydrophobic,neutral polar,hydrophilic,neutral UPK1A Upk1a ENSG00000105668 uroplakin 1A chr19:36157715-36169367 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] vesicoureteral reflux GO:0007166;cell surface receptor signaling pathway;IBA|GO:0030855;epithelial cell differentiation;IDA|GO:0051259;protein oligomerization;ISS GO:0005783;endoplasmic reticulum;ISS|GO:0005886;plasma membrane;ISS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0042803;protein homodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/UPK1A https://www.uniprot.org/uniprot/O00322 https://www.ncbi.nlm.nih.gov/omim/?term=611557 http://www.informatics.jax.org/searchtool/Search.do?query=UPK1A&submit=Quick%0D%3358ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UPK1A rs2285421 0.658746 0.5864 0.6012 0.08 1 12 exonic exonic exonic UPK1A UPK1A ENSG00000105668 nonsynonymous SNV nonsynonymous SNV unknown UPK1A:NM_007000:exon8:c.T770C:p.M257T, UPK1A:uc002oaw.3:exon7:c.T770C:p.M257T, UNKNOWN Het;T>C 905;50|45 Hom;T>C 1710;0|63 N N - 19 36224705 36224705 A G snp nonsynonymous SNV A7091G D2364G polar,hydrophilic,charged(-) aliphatic,neutral KMT2B Kmt2b ENSG00000272333 lysine methyltransferase 2B chr19:36208921-36229779 This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008] Complex early-onset dystonia Homozygous disruption of this gene leads to embryonic growth retardation, abnormal somite development, neural tube defects, increased apoptosis, and complete embryonic lethality. Homozygotes for a hypomorphic allele show embryonic growth arrest, altered DNA methylation, and reduced female fertility. RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007613;memory;IEA|GO:0009994;oocyte differentiation;IEA|GO:0016458;gene silencing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030728;ovulation;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0048096;chromatin-mediated maintenance of transcription;NAS|GO:0051568;histone H3-K4 methylation;IMP|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0080182;histone H3-K4 trimethylation;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0035097;histone methyltransferase complex;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;TAS|GO:0042800;histone methyltransferase activity (H3-K4 specific);IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KMT2B https://hpo.jax.org/app/browse/search?q=KMT2B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606834 http://www.informatics.jax.org/searchtool/Search.do?query=KMT2B&submit=Quick%0D%20862ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KMT2B rs231591 0.620407 0.5792 0.5331 0.15 2 13 exonic exonic exonic KMT2B KMT2B ENSG00000272333 nonsynonymous SNV nonsynonymous SNV unknown KMT2B:NM_014727:exon30:c.A7091G:p.D2364G, KMT2B:uc021usv.1:exon30:c.A7091G:p.D2364G, UNKNOWN Het;A>G 1901;97|87 Hom;A>G 3806;0|140 N N - 19 36595436 36595436 A C snp nonsynonymous SNV A4170C L1390F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral WDR62 Wdr62 ENSG00000075702 WD repeat domain 62 chr19:36545783-36596008 This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011] microcephaly cortical malformations and mental retardation (MCMMR) Mice for a hypomorphic allele exhibit reduced brain size due to decreased neural progenitor cells. Cells show spindle instability, spindle assembly checkpoint activation, mitotic arrest and cell death. GO:0007052;mitotic spindle organization;IMP|GO:0007099;centriole replication;IMP|GO:0007399;nervous system development;IEA|GO:0008380;RNA splicing;IBA|GO:0021987;cerebral cortex development;IMP|GO:0022008;neurogenesis;IMP GO:0000922;spindle pole;IDA|GO:0005634;nucleus;IDA|GO:0005682;U5 snRNP;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/WDR62 https://www.uniprot.org/uniprot/O43379 https://hpo.jax.org/app/browse/search?q=WDR62&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613583 http://www.informatics.jax.org/searchtool/Search.do?query=WDR62&submit=Quick%0D%1559ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR62 rs1008328 0.716254 0.7490 0.7428 0.08 1 13 exonic exonic exonic WDR62 WDR62 ENSG00000075702 nonsynonymous SNV nonsynonymous SNV unknown WDR62:NM_001083961:exon31:c.A4170C:p.L1390F,WDR62:NM_173636:exon31:c.A4155C:p.L1385F, WDR62:uc002odc.2:exon31:c.A4155C:p.L1385F,WDR62:uc002odd.2:exon31:c.A4170C:p.L1390F, UNKNOWN Het;A>C 663;17|30 Hom;A>C 1656;0|60 N N - 19 36674305 36674305 A G snp nonsynonymous SNV T563C I188T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ZNF565 Zfp84 ENSG00000196357 zinc finger protein 565 chr19:36673188-36737159 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF565 https://www.ncbi.nlm.nih.gov/omim/?term=614275 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF565&submit=Quick%0D%16331ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF565 rs4805162 0.630391 0.6136 0.5543 0.15 2 13 exonic exonic exonic ZNF565 ZNF565 ENSG00000196357 nonsynonymous SNV nonsynonymous SNV unknown ZNF565:NM_152477:exon5:c.T563C:p.I188T,ZNF565:NM_001042474:exon5:c.T563C:p.I188T, ZNF565:uc002odn.3:exon5:c.T563C:p.I188T,ZNF565:uc010ees.3:exon4:c.T368C:p.I123T,ZNF565:uc002odo.3:exon5:c.T563C:p.I188T, UNKNOWN Het;A>G 964;43|37 Hom;A>G 2199;0|69 N N - 19 37039069 37039069 A C snp nonsynonymous SNV T391G L131V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF529 ENSG00000186020 zinc finger protein 529 chr19:37025676-37096178 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF529 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF529&submit=Quick%0D%15550ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF529 rs2912444 0.651558 0.7220 0.6472 0.14 1 7 exonic exonic exonic ZNF529 ZNF529 ENSG00000186020 nonsynonymous SNV nonsynonymous SNV unknown ZNF529:NM_001145649:exon6:c.T391G:p.L131V,ZNF529:NM_001145650:exon5:c.T337G:p.L113V,ZNF529:NM_020951:exon5:c.T391G:p.L131V, ZNF529:uc002oeg.4:exon6:c.T76G:p.L26V,ZNF529:uc010xti.2:exon5:c.T337G:p.L113V,ZNF529:uc010xth.2:exon6:c.T391G:p.L131V,ZNF529:uc002oeh.4:exon5:c.T391G:p.L131V, UNKNOWN Het;A>C 2393;91|104 Hom;A>C 4797;0|177 N N - 19 37118439 37118439 C T snp nonsynonymous SNV C1640T T547M polar,hydrophilic,neutral hydrophobic,neutral ZNF382 Zfp382 ENSG00000161298 zinc finger protein 382 chr19:37095719-37119499 This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. The encoded protein inhibits activating protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) signaling and may function as a tumor suppressor in multiple carcinomas. This gene is found in a cluster with other zinc finger protein genes on the long arm of chromosome 19, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] Generic Transcription Pathway GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF382 https://www.ncbi.nlm.nih.gov/omim/?term=609516 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF382&submit=Quick%0D%10573ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF382 rs61732180 0.130591 0.1571 0.1852 0.08 1 13 exonic exonic exonic ZNF382 ZNF382 ENSG00000161298 nonsynonymous SNV nonsynonymous SNV unknown ZNF382:NM_032825:exon5:c.C1640T:p.T547M,ZNF382:NM_001256838:exon5:c.C1637T:p.T546M, ZNF382:uc010efa.3:exon4:c.C1493T:p.T498M,ZNF382:uc002oek.4:exon5:c.C1640T:p.T547M,ZNF382:uc010efb.4:exon5:c.C1637T:p.T546M,ZNF382:uc002oel.3:exon3:c.C1637T:p.T546M, UNKNOWN Het;C>T 161;12|9 Hom;C>T 675;0|26 N N - 19 3750615 3750615 T C snp nonsynonymous SNV T2693C M898T hydrophobic,neutral polar,hydrophilic,neutral TJP3 Tjp3 ENSG00000105289 tight junction protein 3 chr19:3708107-3750811 The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012] Inflammation Homozygous mutation of this gene results in viable and fertile mice with no abnormalities. GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;IEA|GO:0005923;bicellular tight junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TJP3 https://www.uniprot.org/uniprot/O95049 https://www.ncbi.nlm.nih.gov/omim/?term=612689 http://www.informatics.jax.org/searchtool/Search.do?query=TJP3&submit=Quick%0D%3270ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TJP3 rs1046268 0.533347 0.4865 0.5862 0.08 1 13 exonic exonic exonic TJP3 TJP3 ENSG00000105289 nonsynonymous SNV nonsynonymous SNV unknown TJP3:NM_001267560:exon21:c.T2693C:p.M898T,TJP3:NM_001267561:exon21:c.T2720C:p.M907T, TJP3:uc010xhw.3:exon20:c.T2693C:p.M898T,TJP3:uc010xht.3:exon20:c.T2585C:p.M862T,TJP3:uc010xhu.3:exon21:c.T2720C:p.M907T,TJP3:uc010xhs.3:exon21:c.T2693C:p.M898T, UNKNOWN Het;T>C 2702;84|70 Hom;T>C 6474;2|141 N N - 19 3752874 3752874 A G snp nonsynonymous SNV T1126C C376R polar,hydrophobic,neutral polar,hydrophilic,charged(+) APBA3 Apba3 ENSG00000011132 amyloid beta precursor protein binding family A member 3 chr19:3750817-3761697 The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008] Narcolepsy; Inflammation Deletion in mutants causes abnormalities in colon morphology and physiology, increased circulating blood urea nitrogen, and decreased serum chloride, sodium and potassium levels. Surviving homozygotes display diarrhea, postnatal viability and decreased life span. Neurexins and neuroligins GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043086;negative regulation of catalytic activity;IDA|GO:0050790;regulation of catalytic activity;IEA GO:0005737;cytoplasm;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0001540;beta-amyloid binding;IEA|GO:0004857;enzyme inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/APBA3 https://www.uniprot.org/uniprot/O96018 https://www.ncbi.nlm.nih.gov/omim/?term=604262 http://www.informatics.jax.org/searchtool/Search.do?query=APBA3&submit=Quick%0D%544ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APBA3 rs8102086 0.539337 0.5035 0.5633 0.08 1 13 exonic exonic exonic APBA3 APBA3 ENSG00000011132 nonsynonymous SNV nonsynonymous SNV unknown APBA3:NM_004886:exon7:c.T1126C:p.C376R, APBA3:uc002lyo.1:exon4:c.T400C:p.C134R,APBA3:uc002lyp.1:exon7:c.T1126C:p.C376R, UNKNOWN Het;A>G 736;59|38 Hom;A>G 2294;0|81 N N - 19 40030704 40030704 C T snp nonsynonymous SNV G16A A6T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral EID2 Eid2 ENSG00000176396 EP300 interacting inhibitor of differentiation 2 chr19:40028890-40030870 GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007181;transforming growth factor beta receptor complex assembly;IDA|GO:0007183;SMAD protein complex assembly;IDA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;IEA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0030154;cell differentiation;IEA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0042127;regulation of cell proliferation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA GO:0005622;intracellular;IC|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0005515;protein binding;IPI|GO:0046332;SMAD binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/EID2 https://www.ncbi.nlm.nih.gov/omim/?term=609773 http://www.informatics.jax.org/searchtool/Search.do?query=EID2&submit=Quick%0D%13850ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EID2 rs7252027 0.198682 0.1658 0.2465 0.33 4 12 exonic exonic exonic EID2 EID2 ENSG00000176396 nonsynonymous SNV nonsynonymous SNV unknown EID2:NM_153232:exon1:c.G16A:p.A6T, EID2:uc002oma.3:exon1:c.G16A:p.A6T, UNKNOWN Het;C>T 647;50|36 Hom;C>T 2170;0|84 N N - 19 41173892 41173898 CTGCTGT C indel nonframeshift substitution 1302_1308G NUMBL Numbl ENSG00000105245 NUMB like, endocytic adaptor protein chr19:41172596-41196877 schizophrenia; Glioma|Nervous System Neoplasms Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypes except for a reduction in female fertility. GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;TAS|GO:0007405;neuroblast proliferation;IEA|GO:0007409;axonogenesis;IEA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0019538;protein metabolic process;IDA|GO:0021670;lateral ventricle development;IEA|GO:0021849;neuroblast division in subventricular zone;IEA|GO:0030900;forebrain development;IEA|GO:0034332;adherens junction organization;IEA|GO:0050769;positive regulation of neurogenesis;IEA GO:0005737;cytoplasm;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NUMBL https://www.uniprot.org/uniprot/Q9Y6R0 https://www.ncbi.nlm.nih.gov/omim/?term=604018 http://www.informatics.jax.org/searchtool/Search.do?query=NUMBL&submit=Quick%0D%3258ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUMBL rs141662737 0.570288 0.6517 0.6447 1 0 0 exonic exonic exonic NUMBL NUMBL ENSG00000105245 nonframeshift substitution nonframeshift substitution unknown NUMBL:NM_001289980:exon9:c.1182_1188G,NUMBL:NM_001289979:exon9:c.1182_1188G,NUMBL:NM_004756:exon10:c.1305_1311G, NUMBL:uc002ooo.3:exon10:c.1302_1308G,NUMBL:uc010xvr.2:exon9:c.1182_1188G,NUMBL:uc002oon.3:exon10:c.1305_1311G,NUMBL:uc010xvq.2:exon9:c.1182_1188G, UNKNOWN Het;-TGCTGT 1725;7|44 Hom;-TGCTGT 2647;4|70 N N - 19 41627868 41627868 G A snp nonsynonymous SNV G652A D218N polar,hydrophilic,charged(-) polar,hydrophilic,neutral CYP2F1 Cyp2f2 ENSG00000197446 cytochrome P450 family 2 subfamily F member 1 chr19:41620337-41634271 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] Pulmonary Disease, Chronic Obstructive; lung cancer; Lung Neoplasms; Chronic renal failure|Kidney Failure, Chronic; nasopharyngeal cancer; drug-related genes Mice homozygous for a knock-out allele exhibit resistance to napthalene-induced toxicity in the lungs. CYP2E1 reactions GO:0006805;xenobiotic metabolic process;TAS|GO:0009636;response to toxic substance;IEA|GO:0018931;naphthalene metabolic process;IDA|GO:0018979;trichloroethylene metabolic process;IEA|GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2F1 https://www.ncbi.nlm.nih.gov/omim/?term=124070 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2F1&submit=Quick%0D%16629ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2F1 rs305974 0.396765 0.3653 0.3453 0.15 2 13 exonic exonic exonic CYP2F1 CYP2F1 ENSG00000197446 nonsynonymous SNV nonsynonymous SNV unknown CYP2F1:NM_000774:exon6:c.G652A:p.D218N, CYP2F1:uc010xvv.1:exon6:c.G652A:p.D218N,CYP2F1:uc002opu.1:exon6:c.G652A:p.D218N,CYP2F1:uc021uuv.1:exon3:c.G10A:p.D4N, UNKNOWN Het;G>A 579;44|32 Hom;G>A 1768;2|69 N N - 19 4216910 4216910 G A snp nonsynonymous SNV G1753A E585K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) ANKRD24 Ankrd24 ENSG00000089847 ankyrin repeat domain 24 chr19:4183351-4224811 http://www.genecards.org/index.php?path=/Search/keyword/ANKRD24 https://www.uniprot.org/uniprot/Q8TF21 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD24&submit=Quick%0D%2078ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD24 rs10413818 0.711661 0.7238 0.7513 0.08 1 13 exonic exonic exonic ANKRD24 ANKRD24 ENSG00000089847 nonsynonymous SNV nonsynonymous SNV unknown ANKRD24:NM_133475:exon18:c.G1753A:p.E585K, ANKRD24:uc010dtt.1:exon18:c.G1753A:p.E585K,ANKRD24:uc002lzs.2:exon16:c.G1666A:p.E556K,ANKRD24:uc002lzt.2:exon16:c.G1669A:p.E557K, UNKNOWN Het;G>A 1731;61|75 Hom;G>A 3836;0|147 N N - 19 44377669 44377669 G A snp nonsynonymous SNV C688T H230Y aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophobic ZNF404 ENSG00000176222 zinc finger protein 404 chr19:44376515-44405537 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF404 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF404&submit=Quick%0D%13823ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF404 rs12977303 0.389976 0.3765 0.4746 0.70 7 10 exonic exonic exonic ZNF404 ZNF404 ENSG00000176222 nonsynonymous SNV nonsynonymous SNV unknown ZNF404:NM_001033719:exon2:c.C688T:p.H230Y, ZNF404:uc031rle.1:exon3:c.C697T:p.H233Y,ZNF404:uc031rld.1:exon2:c.C595T:p.H199Y,ZNF404:uc002oxs.5:exon2:c.C595T:p.H199Y, UNKNOWN Het;G>A 91;2|4 Hom;G>A 496;0|15 N N - 19 44418693 44418693 T C snp nonsynonymous SNV A895G T299A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ZNF45 ENSG00000124459 zinc finger protein 45 chr19:44416781-44439430 Multiple Sclerosis Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF45 https://www.uniprot.org/uniprot/Q02386 https://www.ncbi.nlm.nih.gov/omim/?term=194554 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF45&submit=Quick%0D%5659ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF45 rs388706 0.525359 0.4559 0.5272 0.15 2 13 exonic exonic exonic ZNF45 ZNF45 ENSG00000124459 nonsynonymous SNV nonsynonymous SNV unknown ZNF45:NM_003425:exon10:c.A895G:p.T299A, ZNF45:uc002oxu.2:exon4:c.A895G:p.T299A,ZNF45:uc002oxw.2:exon10:c.A895G:p.T299A, UNKNOWN Het;T>C 336;3|9 Hom;T>C 147;0|4 N N - 19 44418824 44418824 C T snp nonsynonymous SNV G764A R255K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ZNF45 ENSG00000124459 zinc finger protein 45 chr19:44416781-44439430 Multiple Sclerosis Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF45 https://www.uniprot.org/uniprot/Q02386 https://www.ncbi.nlm.nih.gov/omim/?term=194554 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF45&submit=Quick%0D%5659ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF45 rs399098 0.414337 0.4075 0.4790 0.08 1 13 exonic exonic exonic ZNF45 ZNF45 ENSG00000124459 nonsynonymous SNV nonsynonymous SNV unknown ZNF45:NM_003425:exon10:c.G764A:p.R255K, ZNF45:uc002oxu.2:exon4:c.G764A:p.R255K,ZNF45:uc002oxw.2:exon10:c.G764A:p.R255K, UNKNOWN Het;C>T 1093;53|50 Hom;C>T 2845;0|107 N N - 19 4442336 4442336 C T snp nonsynonymous SNV C2768T A923V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CHAF1A Chaf1a ENSG00000167670 chromatin assembly factor 1 subunit A chr19:4402659-4445015 Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008] Erythrocyte Indices; Chronic renal failure|Kidney Failure, Chronic; Brain Neoplasms|Glioma; longevity Mice homozygous for a null mutation in this gene display lethality before implantation, embryonic growth arrest, and abnormal heterochromatin morphology. GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006335;DNA replication-dependent nucleosome assembly;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0031497;chromatin assembly;IDA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0033186;CAF-1 complex;IDA|GO:0043234;protein complex;IDA GO:0003682;chromatin binding;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0051082;unfolded protein binding;TAS|GO:0070087;chromo shadow domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CHAF1A https://www.ncbi.nlm.nih.gov/omim/?term=601246 http://www.informatics.jax.org/searchtool/Search.do?query=CHAF1A&submit=Quick%0D%12076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHAF1A rs9352 0.567891 0.5189 0.5994 0.17 2 12 exonic exonic exonic CHAF1A CHAF1A ENSG00000167670 nonsynonymous SNV nonsynonymous SNV unknown CHAF1A:NM_005483:exon14:c.C2768T:p.A923V, CHAF1A:uc002mal.3:exon14:c.C2768T:p.A923V, UNKNOWN Het;C>T 1095;68|59 Hom;C>T 2653;0|103 N N - 19 4454083 4454083 C T snp nonsynonymous SNV G91A A31T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral UBXN6 Ubxn6 ENSG00000167671 UBX domain protein 6 chr19:4444996-4457819 GO:0008150;biological_process;ND GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UBXN6 https://www.ncbi.nlm.nih.gov/omim/?term=611946 http://www.informatics.jax.org/searchtool/Search.do?query=UBXN6&submit=Quick%0D%12077ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN6 rs1127888 0.166933 0.2197 0.2215 0.15 2 13 exonic exonic exonic UBXN6 UBXN6 ENSG00000167671 nonsynonymous SNV nonsynonymous SNV unknown UBXN6:NM_025241:exon2:c.G91A:p.A31T, UBXN6:uc002man.2:exon2:c.G91A:p.A31T, UNKNOWN Het;C>T 376;60|26 Hom;C>T 1691;0|64 N N - 19 44933706 44933706 C T snp nonsynonymous SNV G1250A S417N polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF229 ENSG00000278318 zinc finger protein 229 chr19:44921685-44952766 Tuberculosis GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF229 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF229&submit=Quick%0D%22024ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF229 rs57014690 0.16254 0.1300 0.1393 0.11 1 9 exonic exonic exonic ZNF229 ZNF229 ENSG00000167383 nonsynonymous SNV nonsynonymous SNV unknown ZNF229:NM_014518:exon6:c.G1250A:p.S417N,ZNF229:NM_001278510:exon6:c.G1232A:p.S411N, ZNF229:uc002oze.1:exon6:c.G1250A:p.S417N,ZNF229:uc010ejl.1:exon6:c.G1232A:p.S411N,ZNF229:uc010ejk.1:exon6:c.G212A:p.S71N, UNKNOWN Het;C>T 1511;55|64 Hom;C>T 2560;0|92 N N - 19 44934489 44934489 G A snp nonsynonymous SNV C467T S156F polar,hydrophilic,neutral aromatic,hydrophobic,neutral ZNF229 ENSG00000278318 zinc finger protein 229 chr19:44921685-44952766 Tuberculosis GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF229 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF229&submit=Quick%0D%22024ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF229 rs2571174 0.88778 0.9201 0.8929 1 0 0 exonic exonic exonic ZNF229 ZNF229 ENSG00000167383 nonsynonymous SNV nonsynonymous SNV unknown ZNF229:NM_014518:exon6:c.C467T:p.S156F,ZNF229:NM_001278510:exon6:c.C449T:p.S150F, ZNF229:uc002oze.1:exon6:c.C467T:p.S156F,ZNF229:uc010ejl.1:exon6:c.C449T:p.S150F, UNKNOWN Het;G>A 1528;82|71 Hom;G>A 3972;3|151 N N - 19 45029208 45029208 G A snp nonsynonymous SNV C122T A41V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CEACAM20 Ceacam20 ENSG00000273777 carcinoembryonic antigen related cell adhesion molecule 20 chr19:45005729-45033811 Tunica Media; Tobacco Use Disorder GO:0001819;positive regulation of cytokine production;IEA|GO:0009617;response to bacterium;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031528;microvillus membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CEACAM20 http://www.informatics.jax.org/searchtool/Search.do?query=CEACAM20&submit=Quick%0D%20986ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEACAM20 rs10408247 0.290535 0.2275 0.1645 0.00 0 5 exonic exonic ncRNA_exonic CEACAM20 CEACAM20 ENSG00000176395 nonsynonymous SNV nonsynonymous SNV Na CEACAM20:NM_001102600:exon2:c.C122T:p.A41V,CEACAM20:NM_001102598:exon2:c.C122T:p.A41V,CEACAM20:NM_001102599:exon2:c.C122T:p.A41V,CEACAM20:NM_001102597:exon2:c.C122T:p.A41V, CEACAM20:uc010ejn.1:exon2:c.C122T:p.A41V,CEACAM20:uc010ejq.1:exon2:c.C122T:p.A41V,CEACAM20:uc010ejp.1:exon2:c.C122T:p.A41V,CEACAM20:uc010ejo.1:exon2:c.C122T:p.A41V, Na Het;G>A 725;29|35 Hom;G>A 1856;2|74 N N - 19 4511647 4511647 C G snp nonsynonymous SNV G2283C K761N polar,hydrophilic,charged(+) polar,hydrophilic,neutral PLIN4 Plin4 ENSG00000167676 perilipin 4 chr19:4502204-4517716 Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010] Obesity Mice homozygous for a knock-out allele exhibit decreased triglyceride in the heart and protection from cardiac steatosis induced by prolonged fasting, feeding or genetic obesity. GO:0005737;cytoplasm;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLIN4 https://www.ncbi.nlm.nih.gov/omim/?term=613247 http://www.informatics.jax.org/searchtool/Search.do?query=PLIN4&submit=Quick%0D%12079ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLIN4 rs7256387 0.841853 0.8206 0.8443 0.08 1 13 exonic exonic exonic PLIN4 PLIN4 ENSG00000167676 nonsynonymous SNV nonsynonymous SNV unknown PLIN4:NM_001080400:exon3:c.G2283C:p.K761N, PLIN4:uc002mar.1:exon3:c.G2283C:p.K761N, UNKNOWN Het;C>G 601;241|39 Hom;C>G 2157;0|65 N N - 19 4525046 4525046 A G snp nonsynonymous SNV T763C C255R polar,hydrophobic,neutral polar,hydrophilic,charged(+) PLIN5 Plin5 ENSG00000214456 perilipin 5 chr19:4522543-4535236 Members of the perilipin family, such as PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010] Mice homozygous for a knock-out allele exhibit excessive fatty acid oxidation, abnormal lipid levels in organs depending on fed or fasted state, increased oxygen consumption and activity in the dark phase, and decreased cardiac muscle contractility in aged mice. GO:0010867;positive regulation of triglyceride biosynthetic process;IEA|GO:0010884;positive regulation of lipid storage;IEA|GO:0010890;positive regulation of sequestering of triglyceride;IEA|GO:0010897;negative regulation of triglyceride catabolic process;IEA|GO:0019915;lipid storage;IEA|GO:0031999;negative regulation of fatty acid beta-oxidation;IEA|GO:0032000;positive regulation of fatty acid beta-oxidation;IEA|GO:0034389;lipid particle organization;IEA|GO:0035359;negative regulation of peroxisome proliferator activated receptor signaling pathway;IEA|GO:0050995;negative regulation of lipid catabolic process;IEA|GO:0051646;mitochondrion localization;IEA|GO:0060192;negative regulation of lipase activity;IEA|GO:0060193;positive regulation of lipase activity;IEA|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;IEA GO:0035473;lipase binding;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLIN5 https://www.ncbi.nlm.nih.gov/omim/?term=613248 http://www.informatics.jax.org/searchtool/Search.do?query=PLIN5&submit=Quick%0D%18246ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLIN5 rs1610090 0.847244 0.9206 0.8641 0.08 1 12 exonic exonic exonic PLIN5 PLIN5 ENSG00000214456 nonsynonymous SNV nonsynonymous SNV unknown PLIN5:NM_001013706:exon7:c.T763C:p.C255R, PLIN5:uc002mas.3:exon7:c.T763C:p.C255R, UNKNOWN Het;A>G 1590;70|75 Hom;A>G 2741;2|100 N N - 19 45596635 45596635 A G snp nonsynonymous SNV A52G I18V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PPP1R37 Ppp1r37 ENSG00000104866 protein phosphatase 1 regulatory subunit 37 chr19:45594654-45651335 Body Weight GO:0010923;negative regulation of phosphatase activity;IDA GO:0004864;protein phosphatase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R37 https://www.uniprot.org/uniprot/O75864 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R37&submit=Quick%0D%3183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R37 rs75282681 0.0628994 0 0.1575 0.08 1 12 exonic exonic exonic PPP1R37 PPP1R37 ENSG00000104866 nonsynonymous SNV nonsynonymous SNV unknown PPP1R37:NM_019121:exon1:c.A52G:p.I18V, PPP1R37:uc021uvs.1:exon1:c.A52G:p.I18V, UNKNOWN Het;A>G 210;11|11 Hom;A>G 904;0|35 N N - 19 45655647 45655647 G T snp nonsynonymous SNV C2048A A683E aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) NKPD1 Nkpd1 ENSG00000179846 NTPase KAP family P-loop domain containing 1 chr19:45653008-45663408 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/NKPD1 http://www.informatics.jax.org/searchtool/Search.do?query=NKPD1&submit=Quick%0D%14391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NKPD1 rs117934605 0.0503195 0.0928 0.1616 0.08 1 13 exonic exonic exonic NKPD1 NKPD1 ENSG00000179846 nonsynonymous SNV nonsynonymous SNV unknown NKPD1:NM_198478:exon4:c.C2048A:p.A683E, NKPD1:uc021uvt.1:exon1:c.C1382A:p.A461E,NKPD1:uc010xxi.2:exon4:c.C2048A:p.A683E, UNKNOWN Het;G>T 616;30|28 Hom;G>T 3092;0|118 N N - 19 45854919 45854919 T G snp nonsynonymous SNV A2251C K751Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral ERCC2 Ercc2 ENSG00000104884 ERCC excision repair 2, TFIIH core complex helicase subunit chr19:45853095-45874176 The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer; Glaucoma, Open-Angle; breast cancer ; Carcinoma, Squamous Cell|Esophageal Neoplasms|; Adenocarcinoma|DNA Damage|Pancreatic Neoplasms; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Chromosome Aberrations|Chromosome abnormality|Hyperkeratosis, Epidermolytic|Precancerous Conditions|Skin Neoplasms; Lung Neoplasms|Neoplasm of lung ; thyroid cancer; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|Liver Neoplasms; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Pancreatic Ductal|pancreatic neoplasm|Pancreatic Neoplasms; normal variation; Xeroderma pigmentosum and trichothiodystrophy; Burkitt Lymphoma|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Colorectal Neoplasms|Helicobacter Infections; Type 2 Diabetes| edema | rosiglitazone; lymphoma lymphoma, non-Hodgkin; Adenocarcinoma|Stomach Neoplasms; Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; lung cancer; esophageal cancer; Diarrhea|Esophageal Neoplasms|Neutropenia|Stomach Neoplasms; Chromosome Aberrations|Chromosome abnormality; Chromosome Aberrations|Chromosome abnormality|Translocation, Genetic; head and neck cancer; oral premalignant lesions; Stomach Neoplasms; PAH-DNA adducts; colorectal cancer; Apoplexy|Stroke; Endometriosis; sarcoma; Chromosome Aberrations|DNA Damage; Mouth Neoplasms; Leiomyoma; Chronic renal failure|Kidney Failure, Chronic; Macular Degeneration; Lupus Erythematosus, Systemic; lymphoma; Cleft Lip|Cleft Palate; Head and Neck Neoplasms|Neoplasms, Multiple Primary; multiple myeloma; leukemia, myeloid; esophageal cancer ; ovarian cancer ; Leukoplakia, Oral|Mouth Neoplasms; smoking; drug hypersensitivity leukemia; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Adenocarcinoma|Esophageal Neoplasms; Neoplasms, Radiation-Induced|Occupational Diseases; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma; Skin Diseases|Sunburn; cytogenetic studies; Prostatic Neoplasms; Breast Neoplasms|; chronic obstructive pulmonary disease; epithelial ovarian cancer ; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; DNA Damage; esophageal cancer; skin cancer, non-melanoma; oral cancer; Colorectal Neoplasms; Pterygium; Alzheimer's disease; Carcinoma|Colorectal Neoplasms; Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Hodgkin Disease; Carcinoma, Squamous Cell|Skin Neoplasms; gastric cancer; liver cancer; Rectal Neoplasms; chromosomal damage; Adenocarcinoma|Gastritis, Atrophic|Helicobacter Infections|Stomach Neoplasms; Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms; Laryngeal Neoplasms; Adenoma|Colorectal Neoplasms; hyperkeratosis; cervical cancer; Leukemia, Myeloid, Acute; colorectal cancer; colorectal polyps; glioma; leukemia, acute myeloblastic; DNA damage associated with exposure to air pollution; Leukemia, Myeloid, Chronic-Phase; breast cancer; benzene toxicity; Lymphoma, B-Cell; Adenocarcinoma|Esophageal Neoplasms|Heartburn; benzene haematotoxicity; Nasopharyngeal Neoplasms|Xeroderma Pigmentosum; Coronary Artery Disease; testicular cancer; skin lesion; p53 alterations; Leukemia, Lymphocytic, Chronic, B-Cell; squamous cell carcinomas of the head and neck (SCCHN) and breast cancer; longevity; Mesothelioma|Neoplasm of pleura |Pleural Neoplasms; Pre-Eclampsia; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Breast Diseases|Breast Neoplasms|; lymphoma, non-Hodgkin; 1-hydroxypyrene, urinary Cytogenetic studies; DNA adducts; lung cancer ; melanoma|Skin Neoplasms; colorectal carcinoma; Leukemia, Myeloid, Acute|Neoplasms, Second Primary; melanoma; bladder cancer, p53 mutation in; Pancreatic Neoplasms; Head and Neck Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Breast Neoplasms|Fibrosis|Mammary Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Neutropenia; esophageal adenocarcinoma; skin cancer; squamous cell carcinoma; arsenic-induced hyperkeratosis; Bone Neoplasms|Hearing Loss|Osteosarcoma; radiotherapy sensitivity; Biliary Tract Neoplasms; multiple sclerosis; DNA Damage|Melanoma|Skin Neoplasms; Adenocarcinoma|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; ovarian cancer; Breast Neoplasms|Mammary Neoplasms; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Esophagitis, Peptic; Brain Neoplasms|Glioma|Meningeal Neoplasms|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; lung cancer; stomach cancer; meningioma; brain cancer; DNA Damage|Infertility, Male; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Leiomyoma|Uterine Neoplasms; DNA repair capacity; bladder cancer; cytogenetic studies; Azoospermia; Carcinoma, Transitional Cell|Kidney Neoplasms|Ureteral Neoplasms; smoking genotoxic effects; Carcinoma, Squamous Cell|Esophageal Neoplasms; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; endometrial cancer; Carcinoma, Renal Cell|Kidney Neoplasms; nucleotide excision repair; Cataract; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Chromosome Aberrations; Leukemia; DNA Damage|Lung Neoplasms|Neoplasm of lung ; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm; prostate cancer; Myelodysplastic Syndromes; bladder cancer; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; leukemia; bladder cancer; radiotherapy; Melanoma Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects. RNA Pol II CTD phosphorylation and interaction with CE GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006139;nucleobase-containing compound metabolic process;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IGI|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IMP|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006979;response to oxidative stress;IMP|GO:0007059;chromosome segregation;IEA|GO:0007568;aging;IEA|GO:0008283;cell proliferation;IEA|GO:0009411;response to UV;IEA|GO:0009650;UV protection;IGI|GO:0009791;post-embryonic development;IEA|GO:0016032;viral process;IEA|GO:0021510;spinal cord development;IEA|GO:0022405;hair cycle process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0030282;bone mineralization;IEA|GO:0032289;central nervous system myelin formation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0035264;multicellular organism growth;IEA|GO:0035315;hair cell differentiation;IMP|GO:0040016;embryonic cleavage;IEA|GO:0043249;erythrocyte maturation;IEA|GO:0043388;positive regulation of DNA binding;IEA|GO:0043588;skin development;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048820;hair follicle maturation;IEA|GO:0060218;hematopoietic stem cell differentiation;IEA|GO:0070911;global genome nucleotide-excision repair;TAS|GO:1901990;regulation of mitotic cell cycle phase transition;IMP GO:0000439;core TFIIH complex;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0005675;holo TFIIH complex;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0019907;cyclin-dependent protein kinase activating kinase holoenzyme complex;IDA|GO:0071817;MMXD complex;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004386;helicase activity;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0043139;5'-3' DNA helicase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERCC2 https://www.uniprot.org/uniprot/P18074 https://hpo.jax.org/app/browse/search?q=ERCC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126340 http://www.informatics.jax.org/searchtool/Search.do?query=ERCC2&submit=Quick%0D%3190ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERCC2 rs13181 0.236621 0.3260 0.3308 0.23 3 13 exonic exonic exonic ERCC2 ERCC2 ENSG00000104884 nonsynonymous SNV nonsynonymous SNV unknown ERCC2:NM_000400:exon23:c.A2251C:p.K751Q, ERCC2:uc002pbh.2:exon10:c.A940C:p.K314Q,ERCC2:uc010ejz.2:exon21:c.A2017C:p.K673Q,ERCC2:uc002pbi.2:exon12:c.A1330C:p.K444Q,ERCC2:uc002pbj.2:exon23:c.A2251C:p.K751Q, UNKNOWN Het;T>G 815;31|37 Hom;T>G 2041;0|72 N N - 19 47768128 47768128 G C snp nonsynonymous SNV G645C E215D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) CCDC9 Ccdc9 ENSG00000105321 coiled-coil domain containing 9 chr19:47759237-47775210 GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC9 https://www.uniprot.org/uniprot/Q9Y3X0 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9 rs2032811 0.638179 0.5494 0.5912 0.08 1 13 exonic exonic exonic CCDC9 CCDC9 ENSG00000105321 nonsynonymous SNV nonsynonymous SNV unknown CCDC9:NM_015603:exon7:c.G645C:p.E215D, CCDC9:uc010xym.2:exon7:c.G645C:p.E215D, UNKNOWN Het;G>C 769;32|32 Hom;G>C 2044;0|69 N N - 19 47774772 47774772 T C snp nonsynonymous SNV T1433C L478P aliphatic,hydrophobic,neutral hydrophobic,neutral CCDC9 Ccdc9 ENSG00000105321 coiled-coil domain containing 9 chr19:47759237-47775210 GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC9 https://www.uniprot.org/uniprot/Q9Y3X0 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC9&submit=Quick%0D%3273ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC9 rs888836 0.511981 0.3967 0.5011 0.08 1 13 exonic exonic exonic CCDC9 CCDC9 ENSG00000105321 nonsynonymous SNV nonsynonymous SNV unknown CCDC9:NM_015603:exon12:c.T1433C:p.L478P, CCDC9:uc010xym.2:exon12:c.T1433C:p.L478P, UNKNOWN Het;T>C 1495;55|69 Hom;T>C 3201;0|114 N N - 19 48305638 48305650 TGGGCCTGGGATC T indel nonframeshift substitution 618_630A TPRX1 ENSG00000178928 tetrapeptide repeat homeobox 1 chr19:48304500-48322308 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008] GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPRX1 https://www.ncbi.nlm.nih.gov/omim/?term=611166 http://www.informatics.jax.org/searchtool/Search.do?query=TPRX1&submit=Quick%0D%14254ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPRX1 rs781226540 0 0.1257 0.0931 1 0 0 exonic exonic exonic TPRX1 TPRX1 ENSG00000178928 nonframeshift substitution nonframeshift substitution unknown TPRX1:NM_198479:exon2:c.618_630A, TPRX1:uc002php.2:exon2:c.618_630A, UNKNOWN Het;-GGGCCTGGGATC 546;19|17 Hom;-GGGCCTGGGATC 1961;0|45 N N - 19 48525507 48525507 G A snp nonsynonymous SNV G595A E199K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) ELSPBP1 ENSG00000169393 epididymal sperm binding protein 1 chr19:48497908-48528410 The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008] Intelligence; Body Mass Index GO:0007338;single fertilization;IEA|GO:0048240;sperm capacitation;IBA GO:0005576;extracellular region;IEA|GO:0009986;cell surface;IBA GO:0008201;heparin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ELSPBP1 https://www.ncbi.nlm.nih.gov/omim/?term=607443 http://www.informatics.jax.org/searchtool/Search.do?query=ELSPBP1&submit=Quick%0D%12483ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ELSPBP1 rs2303690 0.685304 0.5827 0.6144 0.08 1 13 exonic exonic exonic ELSPBP1 ELSPBP1 ENSG00000169393 nonsynonymous SNV nonsynonymous SNV unknown ELSPBP1:NM_022142:exon6:c.G595A:p.E199K, ELSPBP1:uc002pht.3:exon6:c.G595A:p.E199K, UNKNOWN Het;G>A 856;69|45 Hom;G>A 3158;0|114 N N - 19 49930786 49930786 C A snp nonsynonymous SNV C1099A P367T hydrophobic,neutral polar,hydrophilic,neutral GFY Gfy ENSG00000261949 golgi associated olfactory signaling regulator chr19:49927006-49932075 Mice homozygous for a null mutation display short olfactory epithelium (OE) cilia, reduced odorant induced local field potentials in the OE and impaired olfaction. GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0097499;protein localization to non-motile cilium;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GFY http://www.informatics.jax.org/searchtool/Search.do?query=GFY&submit=Quick%0D%20444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GFY rs4801798 0.169329 0 0.2340 0.00 0 3 exonic exonic exonic GFY LOC100507003 ENSG00000261949 nonsynonymous SNV nonsynonymous SNV unknown GFY:NM_001195256:exon1:c.C1099A:p.P367T, LOC100507003:uc021uxm.1:exon1:c.C1099A:p.P367T, UNKNOWN Het;C>A 894;39|42 Hom;C>A 2343;0|82 N N - 19 49950298 49950298 C T snp nonsynonymous SNV G670A V224I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PIH1D1 Pih1d1 ENSG00000104872 PIH1 domain containing 1 chr19:49949555-49956754 GO:0000492;box C/D snoRNP assembly;IMP|GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IBA|GO:0030855;epithelial cell differentiation;IEP|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0048254;snoRNA localization;IMP|GO:0051569;regulation of histone H3-K4 methylation;IMP|GO:0071169;establishment of protein localization to chromatin;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IMP|GO:0090240;positive regulation of histone H4 acetylation;IMP|GO:1900110;negative regulation of histone H3-K9 dimethylation;IMP|GO:1900113;negative regulation of histone H3-K9 trimethylation;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IGI|GO:1902661;positive regulation of glucose mediated signaling pathway;IMP|GO:1904263;positive regulation of TORC1 signaling;IMP|GO:2000617;positive regulation of histone H3-K9 acetylation;IMP|GO:2000619;negative regulation of histone H4-K16 acetylation;IMP|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0070761;pre-snoRNP complex;IDA|GO:0097255;R2TP complex;IDA GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042393;histone binding;IPI|GO:0051117;ATPase binding;IPI|GO:0051219;phosphoprotein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PIH1D1 https://www.uniprot.org/uniprot/Q9NWS0 https://www.ncbi.nlm.nih.gov/omim/?term=611480 http://www.informatics.jax.org/searchtool/Search.do?query=PIH1D1&submit=Quick%0D%3185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIH1D1 rs13394 0.688898 0.8098 0.7139 0.08 1 13 exonic exonic exonic PIH1D1 PIH1D1 ENSG00000104872 nonsynonymous SNV nonsynonymous SNV unknown PIH1D1:NM_017916:exon7:c.G670A:p.V224I, PIH1D1:uc002pns.2:exon7:c.G670A:p.V224I, UNKNOWN Het;C>T 713;46|38 Hom;C>T 2093;0|80 N N - 19 49954803 49954803 C T snp nonsynonymous SNV G29A G10E aliphatic,neutral polar,hydrophilic,charged(-) PIH1D1 Pih1d1 ENSG00000104872 PIH1 domain containing 1 chr19:49949555-49956754 GO:0000492;box C/D snoRNP assembly;IMP|GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IBA|GO:0030855;epithelial cell differentiation;IEP|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0048254;snoRNA localization;IMP|GO:0051569;regulation of histone H3-K4 methylation;IMP|GO:0071169;establishment of protein localization to chromatin;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IMP|GO:0090240;positive regulation of histone H4 acetylation;IMP|GO:1900110;negative regulation of histone H3-K9 dimethylation;IMP|GO:1900113;negative regulation of histone H3-K9 trimethylation;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IGI|GO:1902661;positive regulation of glucose mediated signaling pathway;IMP|GO:1904263;positive regulation of TORC1 signaling;IMP|GO:2000617;positive regulation of histone H3-K9 acetylation;IMP|GO:2000619;negative regulation of histone H4-K16 acetylation;IMP|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0070761;pre-snoRNP complex;IDA|GO:0097255;R2TP complex;IDA GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042393;histone binding;IPI|GO:0051117;ATPase binding;IPI|GO:0051219;phosphoprotein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PIH1D1 https://www.uniprot.org/uniprot/Q9NWS0 https://www.ncbi.nlm.nih.gov/omim/?term=611480 http://www.informatics.jax.org/searchtool/Search.do?query=PIH1D1&submit=Quick%0D%3185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIH1D1 rs2293013 0.608826 0.7155 0.6862 0.15 2 13 exonic exonic exonic PIH1D1 PIH1D1 ENSG00000104872 nonsynonymous SNV nonsynonymous SNV unknown PIH1D1:NM_017916:exon1:c.G29A:p.G10E, PIH1D1:uc010yaq.2:exon1:c.G29A:p.G10E,PIH1D1:uc010yap.2:exon1:c.G29A:p.G10E,PIH1D1:uc002pns.2:exon1:c.G29A:p.G10E, UNKNOWN Het;C>T 1237;82|36 Hom;C>T 4494;0|102 N N - 19 49954807 49954807 T G snp nonsynonymous SNV A25C M9L hydrophobic,neutral aliphatic,hydrophobic,neutral PIH1D1 Pih1d1 ENSG00000104872 PIH1 domain containing 1 chr19:49949555-49956754 GO:0000492;box C/D snoRNP assembly;IMP|GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006364;rRNA processing;IBA|GO:0030855;epithelial cell differentiation;IEP|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0048254;snoRNA localization;IMP|GO:0051569;regulation of histone H3-K4 methylation;IMP|GO:0071169;establishment of protein localization to chromatin;IMP|GO:0071902;positive regulation of protein serine/threonine kinase activity;IMP|GO:0090240;positive regulation of histone H4 acetylation;IMP|GO:1900110;negative regulation of histone H3-K9 dimethylation;IMP|GO:1900113;negative regulation of histone H3-K9 trimethylation;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IGI|GO:1902661;positive regulation of glucose mediated signaling pathway;IMP|GO:1904263;positive regulation of TORC1 signaling;IMP|GO:2000617;positive regulation of histone H3-K9 acetylation;IMP|GO:2000619;negative regulation of histone H4-K16 acetylation;IMP|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0070761;pre-snoRNP complex;IDA|GO:0097255;R2TP complex;IDA GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IMP|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042393;histone binding;IPI|GO:0051117;ATPase binding;IPI|GO:0051219;phosphoprotein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PIH1D1 https://www.uniprot.org/uniprot/Q9NWS0 https://www.ncbi.nlm.nih.gov/omim/?term=611480 http://www.informatics.jax.org/searchtool/Search.do?query=PIH1D1&submit=Quick%0D%3185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIH1D1 rs2293012 0.608826 0.7155 0.6862 0.08 1 13 exonic exonic exonic PIH1D1 PIH1D1 ENSG00000104872 nonsynonymous SNV nonsynonymous SNV unknown PIH1D1:NM_017916:exon1:c.A25C:p.M9L, PIH1D1:uc010yaq.2:exon1:c.A25C:p.M9L,PIH1D1:uc010yap.2:exon1:c.A25C:p.M9L,PIH1D1:uc002pns.2:exon1:c.A25C:p.M9L, UNKNOWN Het;T>G 1237;80|36 Hom;T>G 4425;0|97 N N - 19 50091798 50091798 G T snp nonsynonymous SNV G346T G116C aliphatic,neutral polar,hydrophobic,neutral PRRG2 Prrg2 ENSG00000126460 proline rich and Gla domain 2 chr19:50083903-50094272 The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004252;serine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRRG2 https://www.uniprot.org/uniprot/O14669 https://www.ncbi.nlm.nih.gov/omim/?term=604429 http://www.informatics.jax.org/searchtool/Search.do?query=PRRG2&submit=Quick%0D%5942ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRG2 rs2288920 0.298323 0.2600 0.3176 0.23 3 13 exonic exonic exonic PRRG2 PRRG2 ENSG00000126460 nonsynonymous SNV nonsynonymous SNV unknown PRRG2:NM_000951:exon5:c.G346T:p.G116C, PRRG2:uc002pon.3:exon5:c.G346T:p.G116C,PRRG2:uc010yaz.1:exon4:c.G277T:p.G93C, UNKNOWN Het;G>T 883;61|45 Hom;G>T 2286;1|90 N N - 19 50162909 50162909 C G snp nonsynonymous SNV G842C S281T polar,hydrophilic,neutral polar,hydrophilic,neutral IRF3 Irf3 ENSG00000126456 interferon regulatory factor 3 chr19:50162826-50169132 This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] Type 2 Diabetes| edema | rosiglitazone; Hepatitis C|Remission, Spontaneous; Lupus Erythematosus, Systemic; Hepatitis C, Chronic|Liver Cirrhosis; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis C, Chronic|Neutropenia|Thrombocytopenia; lung cancer; esophageal cancer; lung cancer ; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; chronic obstructive pulmonary disease; bladder cancer; cervical intraepithelial neoplasia grade 3 Homozygous null mice are more susceptible to viral infection and exhibit lower serum interferon levels in response to viral infection. Factors involved in megakaryocyte development and platelet production GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006915;apoptotic process;TAS|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0009617;response to bacterium;IEA|GO:0016032;viral process;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0032479;regulation of type I interferon production;TAS|GO:0032480;negative regulation of type I interferon production;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032727;positive regulation of interferon-alpha production;ISS|GO:0032728;positive regulation of interferon-beta production;ISS|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0039530;MDA-5 signaling pathway;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043330;response to exogenous dsRNA;IEA|GO:0045087;innate immune response;IEA|GO:0045351;type I interferon biosynthetic process;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060340;positive regulation of type I interferon-mediated signaling pathway;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071888;macrophage apoptotic process;TAS|GO:0097300;programmed necrotic cell death;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0000975;regulatory region DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;NAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003712;transcription cofactor activity;TAS|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/IRF3 https://www.uniprot.org/uniprot/Q14653 https://www.ncbi.nlm.nih.gov/omim/?term=603734 http://www.informatics.jax.org/searchtool/Search.do?query=IRF3&submit=Quick%0D%5939ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF3 rs7251 0.484625 0.4335 0.4294 0.17 2 12 exonic exonic exonic IRF3 IRF3 ENSG00000126456 nonsynonymous SNV nonsynonymous SNV unknown IRF3:NM_001197125:exon7:c.G842C:p.S281T,IRF3:NM_001197123:exon8:c.G1175C:p.S392T,IRF3:NM_001197124:exon7:c.G899C:p.S300T,IRF3:NM_001571:exon8:c.G1280C:p.S427T,IRF3:NM_001197126:exon6:c.G842C:p.S281T,IRF3:NM_001197122:exon8:c.G1296C:p.E432D,IRF3:NM_001197128:exon5:c.G461C:p.S154T,IRF3:NM_001197127:exon6:c.G461C:p.S154T, IRF3:uc002pot.2:exon7:c.G899C:p.S300T,IRF3:uc010end.2:exon8:c.G1280C:p.S427T,IRF3:uc021uxs.1:exon5:c.G461C:p.S154T,IRF3:uc002poy.2:exon7:c.G1280C:p.S427T,IRF3:uc021uxq.1:exon6:c.G842C:p.S281T,IRF3:uc021uxo.1:exon8:c.G1175C:p.S392T,IRF3:uc021uxp.1:exon7:c.G842C:p.S281T,IRF3:uc002pow.3:exon8:c.G1296C:p.E432D,IRF3:uc002pou.3:exon8:c.G1280C:p.S427T,IRF3:uc021uxr.1:exon6:c.G461C:p.S154T, UNKNOWN Het;C>G 922;45|45 Hom;C>G 2832;0|101 N N - 19 50168927 50168927 A C snp splicing IRF3 Irf3 ENSG00000126456 interferon regulatory factor 3 chr19:50162826-50169132 This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] Type 2 Diabetes| edema | rosiglitazone; Hepatitis C|Remission, Spontaneous; Lupus Erythematosus, Systemic; Hepatitis C, Chronic|Liver Cirrhosis; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis C, Chronic|Neutropenia|Thrombocytopenia; lung cancer; esophageal cancer; lung cancer ; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; chronic obstructive pulmonary disease; bladder cancer; cervical intraepithelial neoplasia grade 3 Homozygous null mice are more susceptible to viral infection and exhibit lower serum interferon levels in response to viral infection. Factors involved in megakaryocyte development and platelet production GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006915;apoptotic process;TAS|GO:0006974;cellular response to DNA damage stimulus;TAS|GO:0009617;response to bacterium;IEA|GO:0016032;viral process;IEA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0032479;regulation of type I interferon production;TAS|GO:0032480;negative regulation of type I interferon production;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032727;positive regulation of interferon-alpha production;ISS|GO:0032728;positive regulation of interferon-beta production;ISS|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0039530;MDA-5 signaling pathway;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043330;response to exogenous dsRNA;IEA|GO:0045087;innate immune response;IEA|GO:0045351;type I interferon biosynthetic process;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;TAS|GO:0060340;positive regulation of type I interferon-mediated signaling pathway;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071359;cellular response to dsRNA;IEA|GO:0071888;macrophage apoptotic process;TAS|GO:0097300;programmed necrotic cell death;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0000975;regulatory region DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;NAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003712;transcription cofactor activity;TAS|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/IRF3 https://www.uniprot.org/uniprot/Q14653 https://www.ncbi.nlm.nih.gov/omim/?term=603734 http://www.informatics.jax.org/searchtool/Search.do?query=IRF3&submit=Quick%0D%5939ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IRF3 rs2304205 0.371605 0 0 1 0 0 UTR5 UTR5 splicing BCL2L12(NM_001282521:c.-154A>C,NM_001282519:c.-154A>C,NM_138639:c.-154A>C,NM_001282520:c.-154A>C,NM_001282517:c.-154A>C,NM_001282516:c.-154A>C,NM_001040668:c.-154A>C),IRF3(NM_001197128:c.-3083T>G,NM_001197122:c.-832T>G,NM_001197124:c.-832T>G,NM_001197123:c.-1168T>G,NM_001197127:c.-3083T>G,NM_001197125:c.-3083T>G,NM_001197126:c.-3083T>G,NM_001571:c.-832T>G) BCL2L12(uc002ppa.3:c.-154A>C,uc031rlu.1:c.-154A>C,uc031rlv.1:c.-154A>C,uc031rlw.1:c.-154A>C,uc002ppb.3:c.-154A>C,uc031rlz.1:c.-154A>C,uc031rma.1:c.-154A>C,uc031rmb.1:c.-154A>C,uc031rmd.1:c.-154A>C),IRF3(uc002poy.2:c.-832T>G,uc002pow.3:c.-832T>G,uc021uxo.1:c.-1168T>G,uc002pou.3:c.-832T>G,uc010end.2:c.-832T>G,uc021uxp.1:c.-3083T>G,uc021uxq.1:c.-3083T>G,uc002pot.2:c.-832T>G,uc021uxr.1:c.-3083T>G,uc021uxs.1:c.-3083T>G,uc002poz.1:c.-832T>G) ENSG00000126456 Na Na Na Na Na Na Het;A>C 856;95|46 Hom;A>C 2970;4|117 N N - 19 50881820 50881820 A AAAC indel nonframeshift substitution 223_223delinsAAAC NR1H2 Nr1h2 ENSG00000131408 nuclear receptor subfamily 1 group H member 2 chr19:50832910-50886239 The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010] diabetes, type 2; Alzheimer's disease; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; atherosclerosis; obesity|Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; Lymphoma, Non-Hodgkin; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; plasma HDL cholesterol (HDL-C) levels; cancer tissues Homozygous null mutations cause altered lipid, cholesterol and glucose metabolism and may lead to elevated cartilage matrix catabolism and PGE2 production, lipid-laden uterus myocytes and Sertoli cells, impaired uterus contractility and parturition, and higher susceptibility to bacterial infection. VLDLR internalisation and degradation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;IC|GO:0010867;positive regulation of triglyceride biosynthetic process;IMP|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010884;positive regulation of lipid storage;IEA|GO:0010887;negative regulation of cholesterol storage;IMP|GO:0032270;positive regulation of cellular protein metabolic process;IMP|GO:0032369;negative regulation of lipid transport;IMP|GO:0032376;positive regulation of cholesterol transport;IDA|GO:0042632;cholesterol homeostasis;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045723;positive regulation of fatty acid biosynthetic process;IMP|GO:0045861;negative regulation of proteolysis;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048384;retinoic acid receptor signaling pathway;IEA|GO:0048550;negative regulation of pinocytosis;IMP|GO:0051006;positive regulation of lipoprotein lipase activity;IMP|GO:0055088;lipid homeostasis;IEA|GO:0060336;negative regulation of interferon-gamma-mediated signaling pathway;NAS|GO:0090108;positive regulation of high-density lipoprotein particle assembly;IEA|GO:0090187;positive regulation of pancreatic juice secretion;IEA|GO:0090340;positive regulation of secretion of lysosomal enzymes;IEA|GO:2000188;regulation of cholesterol homeostasis;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001133;RNA polymerase II transcription factor activity, sequence-specific transcription regulatory region DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0034191;apolipoprotein A-I receptor binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046965;retinoid X receptor binding;IEA|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NR1H2 https://www.uniprot.org/uniprot/P55055 https://www.ncbi.nlm.nih.gov/omim/?term=600380 http://www.informatics.jax.org/searchtool/Search.do?query=NR1H2&submit=Quick%0D%6538ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NR1H2 rs34296657 0.548123 0.7908 0.6187 1 0 0 exonic exonic exonic NR1H2 NR1H2 ENSG00000131408 nonframeshift substitution nonframeshift substitution unknown NR1H2:NM_001256647:exon5:c.223_223delinsAAAC,NR1H2:NM_007121:exon6:c.514_514delinsAAAC, NR1H2:uc002psa.5:exon5:c.223_223delinsAAAC,NR1H2:uc010enw.4:exon6:c.514_514delinsAAAC, UNKNOWN Het;+AAC 2153;64|56 Hom;+AAC 5369;0|124 N N - 19 51584916 51584916 G A snp nonsynonymous SNV C133T H45Y aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophobic KLK14 Klk14 ENSG00000129437 kallikrein related peptidase 14 chr19:51580752-51587502 This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] Cholesterol, HDL; prostate cancer; Iron Formation of the cornified envelope GO:0006508;proteolysis;IEA|GO:0009566;fertilization;IDA|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0048730;epidermis morphogenesis;IDA|GO:0070268;cornification;TAS|GO:0070684;seminal clot liquefaction;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA GO:0004252;serine-type endopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KLK14 https://www.uniprot.org/uniprot/Q9P0G3 https://www.ncbi.nlm.nih.gov/omim/?term=606135 http://www.informatics.jax.org/searchtool/Search.do?query=KLK14&submit=Quick%0D%6246ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK14 rs2569491 0.405751 0.4160 0.4204 0.17 2 12 exonic exonic exonic KLK14 KLK14 ENSG00000129437 nonsynonymous SNV nonsynonymous SNV unknown KLK14:NM_022046:exon4:c.C133T:p.H45Y, KLK14:uc021uyk.1:exon4:c.C133T:p.H45Y,KLK14:uc002pvs.1:exon4:c.C133T:p.H45Y, UNKNOWN Het;G>A 1588;56|73 Hom;G>A 4210;2|165 N N - 19 51584951 51584951 T C snp nonsynonymous SNV A98G Q33R polar,hydrophilic,neutral polar,hydrophilic,charged(+) KLK14 Klk14 ENSG00000129437 kallikrein related peptidase 14 chr19:51580752-51587502 This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] Cholesterol, HDL; prostate cancer; Iron Formation of the cornified envelope GO:0006508;proteolysis;IEA|GO:0009566;fertilization;IDA|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0048730;epidermis morphogenesis;IDA|GO:0070268;cornification;TAS|GO:0070684;seminal clot liquefaction;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA GO:0004252;serine-type endopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KLK14 https://www.uniprot.org/uniprot/Q9P0G3 https://www.ncbi.nlm.nih.gov/omim/?term=606135 http://www.informatics.jax.org/searchtool/Search.do?query=KLK14&submit=Quick%0D%6246ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLK14 rs35287116 0.414137 0.4402 0.4740 0.25 3 12 exonic exonic exonic KLK14 KLK14 ENSG00000129437 nonsynonymous SNV nonsynonymous SNV unknown KLK14:NM_022046:exon4:c.A98G:p.Q33R, KLK14:uc021uyk.1:exon4:c.A98G:p.Q33R,KLK14:uc002pvs.1:exon4:c.A98G:p.Q33R, UNKNOWN Het;T>C 1552;44|72 Hom;T>C 3271;1|128 N N - 19 55266496 55266496 A G snp nonsynonymous SNV A1G M1V hydrophobic,neutral aliphatic,hydrophobic,neutral KIR2DS4 ENSG00000284408 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4 chr19:55344131-55360024 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] Graft vs Host Disease|Leukemia, Myeloid, Acute; Spondylitis, Ankylosing; pregnancy loss; Malaria; Behcet Syndrome; Abortion, Habitual|Abortion, Spontaneous|Autoimmune Diseases; Leptospirosis|Swamp fever; leukemia; Hepatitis B, Chronic; rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Vogt-Koyanagi-Harada syndrome; Diabetes Mellitus, Type 1|; Hepatitis C|Substance Abuse, Intravenous; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Osteoarthritis|Spondylitis, Ankylosing; Cytomegalovirus Infections|Postoperative Complications; Paraparesis, Tropical Spastic|Tropical Spastic Paraparesis; normal variation; Uveomeningoencephalitic Syndrome; diabetes, type 1 ; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; diabetes, type 2; Sjogren's Syndrome; HIV Infections|[X]Human immunodeficiency virus disease; respiratory papillomatosis; Familial Mediterranean Fever|; null; Multiple Sclerosis; Hepatitis C|HIV Infections; Leprosy; Graves disease; Autoimmune Diseases|Gastritis; Psoriasis; systemic lupus erythematosus ; spontaneous abortion; Hepatitis C, Chronic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|Liver Cirrhosis|Liver Neoplasms|Recurrence; bladder cancer colorectal cancer laryngeal cancer; acute GVHD; Cytomegalovirus Infections|Epstein-Barr Virus Infections|Polyomavirus Infections|Recurrence|Tumor Virus Infections; Chorioretinitis|; Graft vs Host Disease|Leukemia|Leukemia, Myeloid|Myeloid Leukemia|Neoplasm Recurrence, Local; neuroblastoma; systemic lupus erythematosus; cervical cancer; Axial Spondyloarthropathy; Hemorrhagic Fever, Ebola http://www.genecards.org/index.php?path=/Search/keyword/KIR2DS4 https://www.ncbi.nlm.nih.gov/omim/?term=604955 http://www.informatics.jax.org/searchtool/Search.do?query=KIR2DS4&submit=Quick%0D%23009ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIR2DS4 rs28715756 0.221645 0 0.2039 1 0 0 intergenic exonic ncRNA_exonic KIR2DL3(dist=1992),LOC101928804(dist=14378) KIR2DS4 ENSG00000242473 Na nonsynonymous SNV Na Na KIR2DS4:uc010yfj.2:exon1:c.A1G:p.M1V, Na Het;A>G 655;4|28 Hom;A>G 545;0|20 N N - 19 55418054 55418054 A C snp nonsynonymous SNV A244C K82Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral NCR1 Ncr1 ENSG00000284208 natural cytotoxicity triggering receptor 1 chr19:55417508-55427508 Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses. http://www.genecards.org/index.php?path=/Search/keyword/NCR1 https://www.ncbi.nlm.nih.gov/omim/?term=604530 http://www.informatics.jax.org/searchtool/Search.do?query=NCR1&submit=Quick%0D%22946ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR1 rs2278428 0.176717 0.0657 0.1328 1 0 0 exonic exonic exonic NCR1 NCR1 ENSG00000189430 nonsynonymous SNV nonsynonymous SNV unknown NCR1:NM_001145457:exon3:c.A244C:p.K82Q,NCR1:NM_004829:exon3:c.A244C:p.K82Q,NCR1:NM_001145458:exon3:c.A244C:p.K82Q, NCR1:uc002qib.2:exon3:c.A244C:p.K82Q,NCR1:uc002qie.2:exon3:c.A244C:p.K82Q,NCR1:uc002qic.2:exon3:c.A244C:p.K82Q, UNKNOWN Het;A>C 1673;80|78 Hom;A>C 4313;2|154 N N - 19 55713535 55713535 G A snp nonsynonymous SNV C1042T H348Y aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophobic PTPRH Ptprh ENSG00000080031 protein tyrosine phosphatase, receptor type H chr19:55692616-55720874 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] Mice homozygous for a null alllele exhibit normal intestinal epithelial cell morphology and physiology. GO:0006470;protein dephosphorylation;TAS|GO:0006915;apoptotic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0042995;cell projection;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPRH https://www.uniprot.org/uniprot/Q9HD43 https://www.ncbi.nlm.nih.gov/omim/?term=602510 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRH&submit=Quick%0D%1720ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRH rs2288515 0.571286 0.5468 0.4944 0.08 1 12 exonic exonic exonic PTPRH PTPRH ENSG00000080031 nonsynonymous SNV nonsynonymous SNV unknown PTPRH:NM_002842:exon6:c.C1042T:p.H348Y,PTPRH:NM_001161440:exon4:c.C508T:p.H170Y, PTPRH:uc002qjq.3:exon6:c.C1042T:p.H348Y,PTPRH:uc010esv.3:exon4:c.C508T:p.H170Y,PTPRH:uc002qjs.2:exon6:c.C1063T:p.H355Y, UNKNOWN Het;G>A 3505;149|164 Hom;G>A 6739;0|250 N N - 19 55993260 55993260 A G snp nonsynonymous SNV A700G T234A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ZNF628 Zfp628 ENSG00000197483 zinc finger protein 628 chr19:55987699-55995854 Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008] GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF628 https://www.ncbi.nlm.nih.gov/omim/?term=610671 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF628&submit=Quick%0D%16640ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF628 rs34864744 0.761781 0 0.7937 0.10 1 10 exonic exonic exonic ZNF628 ZNF628 ENSG00000197483 nonsynonymous SNV nonsynonymous SNV unknown ZNF628:NM_033113:exon3:c.A700G:p.T234A, ZNF628:uc002qld.3:exon3:c.A700G:p.T234A, UNKNOWN Het;A>G 886;54|41 Hom;A>G 1748;0|60 N N - 19 56024519 56024519 T C snp nonsynonymous SNV T2927C L976P aliphatic,hydrophobic,neutral hydrophobic,neutral SSC5D Ssc5d ENSG00000179954 scavenger receptor cysteine rich family member with 5 domains chr19:55999771-56030465 Scavenging by Class B Receptors GO:0002376;immune system process;IEA|GO:0006898;receptor-mediated endocytosis;IEA|GO:0006952;defense response;IEA|GO:0007275;multicellular organism development;IEA|GO:0042494;detection of bacterial lipoprotein;ISS|GO:0045087;innate immune response;IEA|GO:0050829;defense response to Gram-negative bacterium;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:2000482;regulation of interleukin-8 secretion;IEA|GO:2000483;negative regulation of interleukin-8 secretion;ISS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;ISS|GO:0005622;intracellular;ISS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA|GO:0031012;extracellular matrix;ISS GO:0001968;fibronectin binding;ISS|GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0043236;laminin binding;ISS|GO:0050840;extracellular matrix binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SSC5D http://www.informatics.jax.org/searchtool/Search.do?query=SSC5D&submit=Quick%0D%14415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SSC5D rs671542 0.971246 0.9989 0.9919 0.08 1 12 exonic exonic exonic SSC5D SSC5D ENSG00000179954 nonsynonymous SNV nonsynonymous SNV unknown SSC5D:NM_001144950:exon13:c.T2927C:p.L976P, SSC5D:uc002qlg.4:exon13:c.T2927C:p.L976P, UNKNOWN Het;T>C 1831;92|91 Hom;T>C 4040;0|146 N N - 19 56041255 56041255 C G snp nonsynonymous SNV G892C A298P aliphatic,hydrophobic,neutral hydrophobic,neutral SBK2 Sbk2 ENSG00000187550 SH3 domain binding kinase family member 2 chr19:56041100-56048456 GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA GO:0005737;cytoplasm;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBK2 http://www.informatics.jax.org/searchtool/Search.do?query=SBK2&submit=Quick%0D%15841ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBK2 rs620251 0.964058 0.9894 0.9751 0.08 1 13 exonic exonic exonic SBK2 SBK2 ENSG00000187550 nonsynonymous SNV nonsynonymous SNV unknown SBK2:NM_001101401:exon4:c.G892C:p.A298P, SBK2:uc010ygc.2:exon4:c.G892C:p.A298P, UNKNOWN Het;C>G 877;30|41 Hom;C>G 1813;0|66 N N - 19 56538976 56538976 G C snp nonsynonymous SNV G1377C M459I hydrophobic,neutral aliphatic,hydrophobic,neutral NLRP5 Nlrp5 ENSG00000171487 chr19:56511092-56573179 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Resistin; Forced Vital Capacity; Crohn Disease|Crohn's disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage. GO:0001701;in utero embryonic development;IEA|GO:0007566;embryo implantation;IEA|GO:0009566;fertilization;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0031647;regulation of protein stability;IEA|GO:0034613;cellular protein localization;IEA|GO:0043487;regulation of RNA stability;IEA|GO:0043623;cellular protein complex assembly;IEA|GO:0070997;neuron death;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA|GO:0045179;apical cortex;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP5 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP5&submit=Quick%0D%12940ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP5 rs471979 0.125 0.0935 0.1298 0.08 1 13 exonic exonic exonic NLRP5 NLRP5 ENSG00000171487 nonsynonymous SNV nonsynonymous SNV unknown NLRP5:NM_153447:exon7:c.G1377C:p.M459I, NLRP5:uc002qmj.3:exon7:c.G1377C:p.M459I,NLRP5:uc002qmi.3:exon6:c.G1320C:p.M440I, UNKNOWN Het;G>C 3087;151|144 Hom;G>C 6729;2|241 N N - 19 56565164 56565164 G A snp nonsynonymous SNV G3289A A1097T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral NLRP5 Nlrp5 ENSG00000171487 chr19:56511092-56573179 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Resistin; Forced Vital Capacity; Crohn Disease|Crohn's disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Leukemia, Lymphocytic, Chronic, B-Cell Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage. GO:0001701;in utero embryonic development;IEA|GO:0007566;embryo implantation;IEA|GO:0009566;fertilization;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0031647;regulation of protein stability;IEA|GO:0034613;cellular protein localization;IEA|GO:0043487;regulation of RNA stability;IEA|GO:0043623;cellular protein complex assembly;IEA|GO:0070997;neuron death;IMP GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA|GO:0005938;cell cortex;IEA|GO:0043234;protein complex;IEA|GO:0045179;apical cortex;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NLRP5 http://www.informatics.jax.org/searchtool/Search.do?query=NLRP5&submit=Quick%0D%12940ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NLRP5 rs3103057 0.897364 0.9548 0.9523 0.08 1 13 exonic exonic exonic NLRP5 NLRP5 ENSG00000171487 nonsynonymous SNV nonsynonymous SNV unknown NLRP5:NM_153447:exon13:c.G3289A:p.A1097T, NLRP5:uc002qmj.3:exon13:c.G3289A:p.A1097T,NLRP5:uc002qmi.3:exon12:c.G3232A:p.A1078T, UNKNOWN Het;G>A 2238;116|112 Hom;G>A 5122;0|190 N N - 19 57649962 57649962 C T snp nonsynonymous SNV G20A R7K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ZIM3 ENSG00000141946 zinc finger imprinted 3 chr19:57645464-57656570 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZIM3 https://www.uniprot.org/uniprot/Q96PE6 http://www.informatics.jax.org/searchtool/Search.do?query=ZIM3&submit=Quick%0D%8233ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZIM3 rs10407445 0.142173 0.1282 0.1011 0.08 1 12 exonic exonic exonic ZIM3 ZIM3 ENSG00000141946 nonsynonymous SNV nonsynonymous SNV unknown ZIM3:NM_052882:exon3:c.G20A:p.R7K, ZIM3:uc002qnz.1:exon3:c.G20A:p.R7K, UNKNOWN Het;C>T 371;19|18 Hom;C>T 664;0|27 N N - 19 57967049 57967049 G T snp nonsynonymous SNV C806A A269D aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) VN1R1 ENSG00000178201 vomeronasal 1 receptor 1 chr19:57966542-57967854 Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations in recipients of the same species. The protein encoded by this gene is similar to pheromone receptors and is primarily localized to the olfactory mucosa. An alternate splice variant of this gene is thought to exist, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007606;sensory perception of chemical stimulus;IBA|GO:0008150;biological_process;ND|GO:0019236;response to pheromone;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0016503;pheromone receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/VN1R1 https://www.ncbi.nlm.nih.gov/omim/?term=605234 http://www.informatics.jax.org/searchtool/Search.do?query=VN1R1&submit=Quick%0D%14151ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VN1R1 rs61744949 0.413339 0.2919 0.3567 0.17 2 12 exonic exonic exonic VN1R1 VN1R1 ENSG00000178201,ENSG00000268163 nonsynonymous SNV nonsynonymous SNV unknown VN1R1:NM_020633:exon1:c.C806A:p.A269D, VN1R1:uc002qos.2:exon1:c.C806A:p.A269D, UNKNOWN Het;G>T 1945;115|95 Hom;G>T 4437;1|169 N N - 19 57967133 57967133 G A snp nonsynonymous SNV C722T S241F polar,hydrophilic,neutral aromatic,hydrophobic,neutral VN1R1 ENSG00000178201 vomeronasal 1 receptor 1 chr19:57966542-57967854 Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations in recipients of the same species. The protein encoded by this gene is similar to pheromone receptors and is primarily localized to the olfactory mucosa. An alternate splice variant of this gene is thought to exist, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] Tobacco Use Disorder GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007606;sensory perception of chemical stimulus;IBA|GO:0008150;biological_process;ND|GO:0019236;response to pheromone;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0016503;pheromone receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/VN1R1 https://www.ncbi.nlm.nih.gov/omim/?term=605234 http://www.informatics.jax.org/searchtool/Search.do?query=VN1R1&submit=Quick%0D%14151ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VN1R1 rs28649880 0.413938 0.2919 0.3569 0.33 4 12 exonic exonic exonic VN1R1 VN1R1 ENSG00000178201 nonsynonymous SNV nonsynonymous SNV unknown VN1R1:NM_020633:exon1:c.C722T:p.S241F, VN1R1:uc002qos.2:exon1:c.C722T:p.S241F, UNKNOWN Het;G>A 1874;137|96 Hom;G>A 5944;2|224 N N - 19 57985460 57985460 T A snp nonsynonymous SNV A652T M218L hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF772 ENSG00000197128 zinc finger protein 772 chr19:57978031-57988938 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF772 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF772&submit=Quick%0D%16553ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF772 rs2074059 0.676518 0.6284 0.6597 0.08 1 12 exonic exonic exonic ZNF772 ZNF772 ENSG00000197128 nonsynonymous SNV nonsynonymous SNV unknown ZNF772:NM_001024596:exon5:c.A652T:p.M218L,ZNF772:NM_001144068:exon4:c.A529T:p.M177L, ZNF772:uc010ygz.2:exon3:c.A316T:p.M106L,ZNF772:uc002qou.3:exon2:c.A316T:p.M106L,ZNF772:uc010ygy.2:exon4:c.A529T:p.M177L,ZNF772:uc002qot.3:exon5:c.A652T:p.M218L,ZNF772:uc010yha.2:exon3:c.A490T:p.M164L, UNKNOWN Het;T>A 1634;113|88 Hom;T>A 6031;0|229 N N - 19 57985566 57985566 G C snp nonsynonymous SNV C546G C182W polar,hydrophobic,neutral aromatic,hydrophobic,neutral ZNF772 ENSG00000197128 zinc finger protein 772 chr19:57978031-57988938 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF772 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF772&submit=Quick%0D%16553ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF772 rs2074060 0.676917 0.6269 0.6601 0.08 1 12 exonic exonic exonic ZNF772 ZNF772 ENSG00000197128 nonsynonymous SNV nonsynonymous SNV unknown ZNF772:NM_001024596:exon5:c.C546G:p.C182W,ZNF772:NM_001144068:exon4:c.C423G:p.C141W, ZNF772:uc010ygz.2:exon3:c.C210G:p.C70W,ZNF772:uc002qou.3:exon2:c.C210G:p.C70W,ZNF772:uc010ygy.2:exon4:c.C423G:p.C141W,ZNF772:uc002qot.3:exon5:c.C546G:p.C182W,ZNF772:uc010yha.2:exon3:c.C384G:p.C128W, UNKNOWN Het;G>C 1797;79|79 Hom;G>C 4877;0|168 N N - 19 57988666 57988666 A AGCC indel nonframeshift substitution 12_12delinsGGCT ZNF772 ENSG00000197128 zinc finger protein 772 chr19:57978031-57988938 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF772 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF772&submit=Quick%0D%16553ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF772 rs34678661 0.406749 0.2856 0.3527 1 0 0 exonic exonic exonic ZNF772 ZNF772 ENSG00000197128,ENSG00000268163 nonframeshift substitution nonframeshift substitution unknown ZNF772:NM_001024596:exon1:c.12_12delinsGGCT,ZNF772:NM_001144068:exon1:c.12_12delinsGGCT, ZNF772:uc010ygy.2:exon1:c.12_12delinsGGCT,ZNF772:uc002qot.3:exon1:c.12_12delinsGGCT,ZNF772:uc010yha.2:exon1:c.12_12delinsGGCT, UNKNOWN Het;+GCC 433;34|24 Hom;+GCC 2836;1|65 N N - 19 58003580 58003580 A G snp splicing 298+1A>G ZNF419 ENSG00000105136 zinc finger protein 419 chr19:57999079-58006048 Tobacco Use Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF419 https://www.uniprot.org/uniprot/Q96HQ0 https://www.ncbi.nlm.nih.gov/omim/?term=617410 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419 rs2074071 0.695487 0.6608 0.7113 1 0 0 splicing splicing exonic;splicing ZNF419(NM_024691:exon4:c.298+1A>G,NM_001291745:exon3:c.262+1A>G,NM_001098493:exon3:c.259+1A>G,NM_001098491:exon4:c.301+1A>G,NM_001098492:exon3:c.262+1A>G) ZNF419(uc010ety.1:exon4:c.301+1A>G,uc002qov.2:exon4:c.298+1A>G,uc010etz.1:exon3:c.262+1A>G,uc010eua.1:exon3:c.259+1A>G) ENSG00000105136;ENSG00000105136(ENST00000354197:exon3:c.262+1A>G,ENST00000426954:exon3:c.262+1A>G,ENST00000442920:exon3:c.259+1A>G,ENST00000424930:exon4:c.301+1A>G,ENST00000221735:exon4:c.298+1A>G) Na Na unknown Na Na UNKNOWN Het;A>G 742;73|40 Hom;A>G 2531;0|94 N N - 19 58004346 58004346 G C snp nonsynonymous SNV G421C E141Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral ZNF419 ENSG00000105136 zinc finger protein 419 chr19:57999079-58006048 Tobacco Use Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF419 https://www.uniprot.org/uniprot/Q96HQ0 https://www.ncbi.nlm.nih.gov/omim/?term=617410 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF419&submit=Quick%0D%3237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF419 rs2074076 0.695687 0.6601 0.7111 0.25 3 12 exonic exonic exonic ZNF419 ZNF419 ENSG00000105136 nonsynonymous SNV nonsynonymous SNV unknown ZNF419:NM_024691:exon5:c.G421C:p.E141Q,ZNF419:NM_001098491:exon5:c.G424C:p.E142Q,ZNF419:NM_001098494:exon4:c.G325C:p.E109Q,ZNF419:NM_001098496:exon3:c.G283C:p.E95Q,ZNF419:NM_001098495:exon3:c.G286C:p.E96Q,ZNF419:NM_001098493:exon4:c.G382C:p.E128Q,ZNF419:NM_001098492:exon4:c.G385C:p.E129Q,ZNF419:NM_001291744:exon4:c.G157C:p.E53Q,ZNF419:NM_001291743:exon4:c.G322C:p.E108Q, ZNF419:uc010etz.1:exon4:c.G385C:p.E129Q,ZNF419:uc010euc.1:exon3:c.G283C:p.E95Q,ZNF419:uc010eub.1:exon3:c.G286C:p.E96Q,ZNF419:uc002qov.2:exon5:c.G421C:p.E141Q,ZNF419:uc002qow.2:exon4:c.G325C:p.E109Q,ZNF419:uc010eua.1:exon4:c.G382C:p.E128Q,ZNF419:uc010ety.1:exon5:c.G424C:p.E142Q, UNKNOWN Het;G>C 1932;97|88 Hom;G>C 3717;0|133 N N - 19 58214147 58214147 T C snp nonsynonymous SNV A170G H57R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ZNF154 ENSG00000179909 zinc finger protein 154 chr19:58208735-58220579 This gene encodes a protein that belongs to the zinc finger Kruppel family of transcriptional regulators, whose members are thought to function in normal and abnormal cell growth and differentiation. Hypermethylation of this gene is associated with the recurrence of non muscle invasive bladder cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IBA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF154 https://www.ncbi.nlm.nih.gov/omim/?term=604085 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF154&submit=Quick%0D%14400ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF154 rs34282745 0.00838658 0.0298 0.0228 0.17 2 12 exonic exonic exonic ZNF154 ZNF154 ENSG00000179909 nonsynonymous SNV nonsynonymous SNV unknown ZNF154:NM_001085384:exon3:c.A170G:p.H57R, ZNF154:uc010euf.3:exon3:c.A170G:p.H57R, UNKNOWN Het;T>C 1147;36|56 Hom;T>C 2504;0|88 N N - 19 58420162 58420162 T C snp nonsynonymous SNV A1481G N494S polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF417 ENSG00000173480 zinc finger protein 417 chr19:58411664-58427978 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF417 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF417&submit=Quick%0D%13367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF417 rs10416584 0.314696 0.2653 0.3255 0.08 1 12 exonic exonic exonic ZNF417 ZNF417 ENSG00000173480 nonsynonymous SNV nonsynonymous SNV unknown ZNF417:NM_001297734:exon3:c.A1481G:p.N494S,ZNF417:NM_152475:exon3:c.A1484G:p.N495S, ZNF417:uc002qqq.3:exon3:c.A1484G:p.N495S,ZNF417:uc002qqr.3:exon3:c.A1481G:p.N494S,ZNF417:uc010yhm.2:exon4:c.A1355G:p.N452S, UNKNOWN Het;T>C 815;13|21 Hom;T>C 917;0|21 N N - 19 58420699 58420699 C A snp nonsynonymous SNV G944T R315L polar,hydrophilic,charged(+) aliphatic,hydrophobic,neutral ZNF417 ENSG00000173480 zinc finger protein 417 chr19:58411664-58427978 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF417 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF417&submit=Quick%0D%13367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF417 rs3745133 0.33746 0 0.3259 0.33 4 12 exonic exonic exonic ZNF417 ZNF417 ENSG00000173480 nonsynonymous SNV nonsynonymous SNV unknown ZNF417:NM_001297734:exon3:c.G944T:p.R315L,ZNF417:NM_152475:exon3:c.G947T:p.R316L, ZNF417:uc002qqq.3:exon3:c.G947T:p.R316L,ZNF417:uc002qqr.3:exon3:c.G944T:p.R315L,ZNF417:uc010yhm.2:exon4:c.G818T:p.R273L, UNKNOWN Het;C>A 2031;87|91 Hom;C>A 3697;0|125 N N - 19 58421128 58421128 C T snp nonsynonymous SNV G515A R172H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) ZNF417 ENSG00000173480 zinc finger protein 417 chr19:58411664-58427978 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF417 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF417&submit=Quick%0D%13367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF417 rs3826671 0.328674 0.3366 0.4026 0.08 1 12 exonic exonic exonic ZNF417 ZNF417 ENSG00000173480 nonsynonymous SNV nonsynonymous SNV unknown ZNF417:NM_001297734:exon3:c.G515A:p.R172H,ZNF417:NM_152475:exon3:c.G518A:p.R173H, ZNF417:uc002qqq.3:exon3:c.G518A:p.R173H,ZNF417:uc002qqr.3:exon3:c.G515A:p.R172H,ZNF417:uc010yhm.2:exon4:c.G389A:p.R130H, UNKNOWN Het;C>T 1388;73|67 Hom;C>T 3410;0|131 N N - 19 58549322 58549322 C T snp nonsynonymous SNV C118T R40C polar,hydrophilic,charged(+) polar,hydrophobic,neutral ZSCAN1 ENSG00000152467 zinc finger and SCAN domain containing 1 chr19:58545400-58565999 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZSCAN1 https://www.uniprot.org/uniprot/Q8NBB4 http://www.informatics.jax.org/searchtool/Search.do?query=ZSCAN1&submit=Quick%0D%9555ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSCAN1 rs148768169 0.00379393 0.0077 0.0062 0.17 2 12 exonic exonic exonic ZSCAN1 ZSCAN1 ENSG00000152467 nonsynonymous SNV nonsynonymous SNV unknown ZSCAN1:NM_182572:exon3:c.C118T:p.R40C, ZSCAN1:uc002qrb.1:exon3:c.C118T:p.R40C,ZSCAN1:uc002qra.1:exon4:c.C118T:p.R40C,ZSCAN1:uc002qrc.1:exon3:c.C118T:p.R40C, UNKNOWN Het;C>T 775;32|36 Hom;C>T 2118;3|84 N N - 19 58718269 58718269 G A snp nonsynonymous SNV G124A V42I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF274 Zfp369 ENSG00000171606 zinc finger protein 274 chr19:58694396-58724928 This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq, Jul 2008] Homozygous mutants on a C57BL/6 background die at embryonic day 12. On a strain 129 background, mutants are viable and fertile, but males are more docile and testis weight is greatly reduced. On an F2 background, 20% of homozygous pups die neonatally. Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:1900112;regulation of histone H3-K9 trimethylation;IMP|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;TAS|GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF274 https://www.ncbi.nlm.nih.gov/omim/?term=605467 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF274&submit=Quick%0D%12973ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF274 rs7256349 0.122404 0.2064 0.2251 0.08 1 13 exonic exonic exonic ZNF274 ZNF274 ENSG00000171606 unknown nonsynonymous SNV unknown UNKNOWN ZNF274:uc002qrs.1:exon2:c.G124A:p.V42I,ZNF274:uc002qrq.1:exon5:c.G439A:p.V147I,ZNF274:uc002qrr.1:exon4:c.G343A:p.V115I, UNKNOWN Het;G>A 1153;69|57 Hom;G>A 3876;2|140 N N - 19 58907700 58907700 G A snp nonsynonymous SNV G244A D82N polar,hydrophilic,charged(-) polar,hydrophilic,neutral RNF225 Rnf225 rs112710702 0.0221645 0 0.0467 0.75 3 4 exonic exonic exonic RNF225 LOC646862 ENSG00000269855 nonsynonymous SNV nonsynonymous SNV unknown RNF225:NM_001195135:exon1:c.G244A:p.D82N, LOC646862:uc021vcz.1:exon1:c.G244A:p.D82N, UNKNOWN Het;G>A 1443;54|71 Hom;G>A 2691;4|104 N N - 19 6156483 6156483 T C snp nonsynonymous SNV T428C V143A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ACSBG2 Acsbg2 ENSG00000130377 acyl-CoA synthetase bubblegum family member 2 chr19:6135258-6193112 The BGR gene expands the bubblegum ACS family with a testes-specific, developmentally regulated member that may play a role in spermatogenesis. The BGR-like gene may play an important role in spermatogenesis/testicular development and may be correlated with male infertility. Echocardiography Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. Synthesis of very long-chain fatty acyl-CoAs GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0030154;cell differentiation;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008152;metabolic process;IEA|GO:0030154;cell differentiation;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;IDA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0031957;very long-chain fatty acid-CoA ligase activity;TAS|GO:0047617;acyl-CoA hydrolase activity;IDA|GO:0102391;decanoate--CoA ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACSBG2 https://www.uniprot.org/uniprot/Q5FVE4 https://www.ncbi.nlm.nih.gov/omim/?term=614363 http://www.informatics.jax.org/searchtool/Search.do?query=ACSBG2&submit=Quick%0D%140ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSBG2 rs4807840 0.712061 0.7001 0.7088 0.27 3 11 exonic exonic exonic ACSBG2 ACSBG2 ENSG00000130377 nonsynonymous SNV nonsynonymous SNV unknown ACSBG2:NM_001289178:exon5:c.T428C:p.V143A,ACSBG2:NM_030924:exon5:c.T428C:p.V143A,ACSBG2:NM_001289179:exon5:c.T428C:p.V143A,ACSBG2:NM_001289177:exon5:c.T428C:p.V143A, ACSBG2:uc002meh.1:exon5:c.T428C:p.V143A,ACSBG2:uc002mei.1:exon5:c.T278C:p.V93A,ACSBG2:uc010xiz.1:exon5:c.T428C:p.V143A,ACSBG2:uc002meg.1:exon5:c.T428C:p.V143A,ACSBG2:uc002mef.1:exon5:c.T428C:p.V143A, UNKNOWN Het;T>C 500;32|27 Hom;T>C 1846;0|66 N N - 19 6665020 6665020 T C snp nonsynonymous SNV A640G K214E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) TNFSF14 Tnfsf14 ENSG00000125735 TNF superfamily member 14 chr19:6663148-6670599 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Narcolepsy; benzene haematotoxicity; Multiple Sclerosis; null; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Hyperparathyroidism, Secondary; Dementia, Vascular|Inflammation|Stroke; Multiple Myeloma Targeted disruption of this gene leads to selective impairment of CD8+ T cell function. Mice homozygous for a knock-out allele exhibit defects in CD8+ T cell-mediated allogenic responses. Mice homozygous for a different knock-out allele show increased resistance to experimentally-induced hepatitis. TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway GO:0006915;apoptotic process;TAS|GO:0006955;immune response;IEA|GO:0007165;signal transduction;NAS|GO:0008588;release of cytoplasmic sequestered NF-kappaB;IDA|GO:0010820;positive regulation of T cell chemotaxis;IEA|GO:0031295;T cell costimulation;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042098;T cell proliferation;NAS|GO:0042110;T cell activation;NAS|GO:0043029;T cell homeostasis;NAS|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:1901741;positive regulation of myoblast fusion;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005102;receptor binding;TAS|GO:0005125;cytokine activity;IEA|GO:0005164;tumor necrosis factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IDA http://www.genecards.org/index.php?path=/Search/keyword/TNFSF14 https://www.uniprot.org/uniprot/O43557 https://www.ncbi.nlm.nih.gov/omim/?term=604520 http://www.informatics.jax.org/searchtool/Search.do?query=TNFSF14&submit=Quick%0D%5822ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFSF14 rs344560 0.959665 0.9582 0.9484 0.18 2 11 exonic exonic exonic TNFSF14 TNFSF14 ENSG00000125735 nonsynonymous SNV nonsynonymous SNV unknown TNFSF14:NM_003807:exon5:c.A640G:p.K214E,TNFSF14:NM_172014:exon5:c.A532G:p.K178E, TNFSF14:uc002mfk.2:exon5:c.A640G:p.K214E,TNFSF14:uc002mfj.2:exon5:c.A532G:p.K178E, UNKNOWN Het;T>C 1121;56|49 Hom;T>C 2511;0|92 N N - 19 7747293 7747293 T G snp nonsynonymous SNV T154G S52A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral TRAPPC5 Trappc5 ENSG00000181029 trafficking protein particle complex 5 chr19:7745729-7747744 RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048193;Golgi vesicle transport;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061024;membrane organization;TAS GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0030008;TRAPP complex;IEA GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC5 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC5&submit=Quick%0D%14573ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC5 rs6952 0.358027 0.3286 0.3848 0.15 2 13 exonic exonic exonic TRAPPC5 TRAPPC5 ENSG00000181029,ENSG00000269711 nonsynonymous SNV nonsynonymous SNV unknown TRAPPC5:NM_001042462:exon2:c.T154G:p.S52A,TRAPPC5:NM_001042461:exon2:c.T154G:p.S52A,TRAPPC5:NM_174894:exon2:c.T154G:p.S52A, TRAPPC5:uc002mhi.1:exon2:c.T154G:p.S52A,TRAPPC5:uc002mhj.2:exon2:c.T154G:p.S52A,TRAPPC5:uc002mhk.2:exon2:c.T154G:p.S52A,TRAPPC5:uc021unw.1:exon1:c.T154G:p.S52A, UNKNOWN Het;T>G 189;33|11 Hom;T>G 1004;0|35 N N - 19 8808373 8808373 G T snp nonsynonymous SNV C679A H227N aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral ACTL9 Actl9 ENSG00000181786 actin like 9 chr19:8807751-8809172 GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACTL9 http://www.informatics.jax.org/searchtool/Search.do?query=ACTL9&submit=Quick%0D%14670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTL9 rs4804079 0.60004 0.5280 0.5524 1 0 0 exonic exonic exonic ACTL9 ACTL9 ENSG00000181786 nonsynonymous SNV nonsynonymous SNV unknown ACTL9:NM_178525:exon1:c.C679A:p.H227N, ACTL9:uc002mkl.2:exon1:c.C679A:p.H227N, UNKNOWN Het;G>T 948;45|48 Hom;G>T 2389;0|84 N N - 19 9213079 9213079 A C snp nonsynonymous SNV T904G F302V aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR7G2 Olfr853 ENSG00000170923 olfactory receptor family 7 subfamily G member 2 chr19:9212945-9213982 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7G2 http://www.informatics.jax.org/searchtool/Search.do?query=OR7G2&submit=Quick%0D%12809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7G2 rs4804401 0.332468 0.2815 0.3375 0.23 3 13 exonic exonic exonic OR7G2 OR7G2 ENSG00000170923 nonsynonymous SNV nonsynonymous SNV unknown OR7G2:NM_001005193:exon1:c.T904G:p.F302V, OR7G2:uc010xkk.2:exon1:c.T904G:p.F302V, UNKNOWN Het;A>C 1399;65|63 Hom;A>C 2303;0|81 N N - 19 9213132 9213132 A G snp nonsynonymous SNV T851C V284A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR7G2 Olfr853 ENSG00000170923 olfactory receptor family 7 subfamily G member 2 chr19:9212945-9213982 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7G2 http://www.informatics.jax.org/searchtool/Search.do?query=OR7G2&submit=Quick%0D%12809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7G2 rs12610094 0.404553 0.3538 0.4079 0.08 1 13 exonic exonic exonic OR7G2 OR7G2 ENSG00000170923 nonsynonymous SNV nonsynonymous SNV unknown OR7G2:NM_001005193:exon1:c.T851C:p.V284A, OR7G2:uc010xkk.2:exon1:c.T851C:p.V284A, UNKNOWN Het;A>G 1248;57|58 Hom;A>G 2431;0|86 N N - 19 9968434 9968434 C T snp nonsynonymous SNV G389A R130Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral OLFM2 Olfm2 ENSG00000105088 olfactomedin 2 chr19:9964394-10047228 Menarche; glaucoma, primary open-angle Mice homozygous for a knock-out allele exhibit moderate locomotor and anxiety-related behavioral abnormalities, altered visual evoked potential, and reduced compactness of myelin sheaths in the optic nerve. GO:0007601;visual perception;IEA|GO:0007626;locomotory behavior;IEA|GO:0009306;protein secretion;IDA|GO:0051152;positive regulation of smooth muscle cell differentiation;IMP GO:0005576;extracellular region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032281;AMPA glutamate receptor complex;IEA|GO:0045202;synapse;IEA|GO:0097060;synaptic membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/OLFM2 https://www.uniprot.org/uniprot/O95897 https://www.ncbi.nlm.nih.gov/omim/?term=617492 http://www.informatics.jax.org/searchtool/Search.do?query=OLFM2&submit=Quick%0D%3232ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OLFM2 rs2303100 0.310503 0.4061 0.4593 0.38 5 13 exonic exonic exonic OLFM2 OLFM2 ENSG00000105088 nonsynonymous SNV nonsynonymous SNV unknown OLFM2:NM_001304347:exon3:c.G389A:p.R130Q,OLFM2:NM_001304348:exon2:c.G83A:p.R28Q,OLFM2:NM_058164:exon3:c.G317A:p.R106Q, OLFM2:uc002mmp.3:exon3:c.G317A:p.R106Q, UNKNOWN Het;C>T 1071;34|49 Hom;C>T 2668;0|101 N N - 1 109792735 109792735 A ACGC indel nonframeshift substitution 34_34delinsACGC CELSR2 Celsr2 ENSG00000143126 cadherin EGF LAG seven-pass G-type receptor 2 chr1:109792641-109818372 The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008] plasma lipoprotein traits; Coronary Disease; dementia; Type 2 Diabetes| edema | rosiglitazone; Coronary Disease|Coronary heart disease|Myocardial Infarction; Cholesterol; Coronary Artery Disease; GRN protein, human; Cholesterol, total; 1-Alkyl-2-acetylglycerophosphocholine Esterase; Coronary Artery Disease|; Myocardial Infarction; lipid concentrations; Cardiovascular Diseases; myocardial infarction (early onset); Lipoproteins, LDL; Cholesterol, LDL; Type 2 diabetes; Triglycerides; LDL cholesterol; normal variation; Lipid Metabolism Disorders Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal. GO:0006355;regulation of transcription, DNA-templated;ISS|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;ISS|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;ISS|GO:0021999;neural plate anterior/posterior regionalization;ISS|GO:0022407;regulation of cell-cell adhesion;ISS|GO:0048813;dendrite morphogenesis;ISS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS GO:0005737;cytoplasm;ISS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CELSR2 https://www.uniprot.org/uniprot/Q9HCU4 https://www.ncbi.nlm.nih.gov/omim/?term=604265 http://www.informatics.jax.org/searchtool/Search.do?query=CELSR2&submit=Quick%0D%8367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CELSR2 rs144034706 0.568291 0.6103 0.6876 1 0 0 exonic exonic exonic CELSR2 CELSR2 ENSG00000143126 nonframeshift substitution nonframeshift substitution nonframeshift substitution CELSR2:NM_001408:exon1:c.34_34delinsACGC, CELSR2:uc001dxa.4:exon1:c.34_34delinsACGC, ENSG00000143126:ENST00000271332:exon1:c.34_34delinsACGC, Het;+CGC 1632;4|39 Hom;+CGC 1062;0|23 N N - 1 110709720 110709720 G A snp nonsynonymous SNV G169A A57T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral SLC6A17 Slc6a17 ENSG00000197106 solute carrier family 6 member 17 chr1:110693108-110744824 The SLC6 family of proteins, which includes SLC6A17, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Mar 2008] Tobacco Use Disorder GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0007420;brain development;IEA|GO:0015804;neutral amino acid transport;IEA|GO:0015816;glycine transport;IEA|GO:0015820;leucine transport;IEA|GO:0015824;proline transport;IEA|GO:0032328;alanine transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005887;integral component of plasma membrane;IBA|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;IBA|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A17 https://hpo.jax.org/app/browse/search?q=SLC6A17&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610299 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A17&submit=Quick%0D%16544ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A17 rs12737742 0.2502 0.3312 0.3771 0.08 1 13 exonic exonic exonic SLC6A17 SLC6A17 ENSG00000197106 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV SLC6A17:NM_001010898:exon2:c.G169A:p.A57T, SLC6A17:uc009wfq.3:exon2:c.G169A:p.A57T, ENSG00000197106:ENST00000331565:exon2:c.G169A:p.A57T, Het;G>A 1654;41|44 Hom;G>A 2361;2|57 N N - 1 111861841 111861841 A G snp nonsynonymous SNV A532G I178V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CHIA Chia1 ENSG00000134216 chitinase, acidic chr1:111833484-111863188 The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Asthma|; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; longevity; respiratory syncytial virus bronchiolitis Homozygous knockout causes increased neutrophil and lymphocyte counts in bronchoalveolar lavage in certain pulmonary allergen exposure experiments, but immune response to various pulmonary allergen exposures is unchanged. Digestion of dietary carbohydrate GO:0000272;polysaccharide catabolic process;IEA|GO:0002376;immune system process;IEA|GO:0002532;production of molecular mediator involved in inflammatory response;IDA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006030;chitin metabolic process;IEA|GO:0006032;chitin catabolic process;IDA|GO:0006037;cell wall chitin metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0007586;digestion;NAS|GO:0008152;metabolic process;IEA|GO:0009620;response to fungus;TAS|GO:0090197;positive regulation of chemokine secretion;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IC|GO:0005737;cytoplasm;IEA GO:0003796;lysozyme activity;NAS|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004568;chitinase activity;TAS|GO:0008061;chitin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0019900;kinase binding;IPI|GO:0030246;carbohydrate binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/CHIA https://www.uniprot.org/uniprot/Q9BZP6 https://www.ncbi.nlm.nih.gov/omim/?term=606080 http://www.informatics.jax.org/searchtool/Search.do?query=CHIA&submit=Quick%0D%6932ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHIA rs2275253 0.659145 0.7224 0.6554 0.08 1 13 exonic exonic exonic CHIA CHIA ENSG00000134216 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CHIA:NM_001258005:exon9:c.A532G:p.I178V,CHIA:NM_001040623:exon8:c.A532G:p.I178V,CHIA:NM_001258004:exon10:c.A532G:p.I178V,CHIA:NM_001258001:exon9:c.A691G:p.I231V,CHIA:NM_001258003:exon8:c.A691G:p.I231V,CHIA:NM_001258002:exon6:c.A532G:p.I178V,CHIA:NM_201653:exon10:c.A1015G:p.I339V,CHIA:NM_021797:exon7:c.A691G:p.I231V, CHIA:uc001eaq.4:exon9:c.A691G:p.I231V,CHIA:uc001eat.4:exon6:c.A532G:p.I178V,CHIA:uc001eau.4:exon8:c.A532G:p.I178V,CHIA:uc009wgc.4:exon8:c.A691G:p.I231V,CHIA:uc001ear.4:exon7:c.A691G:p.I231V,CHIA:uc009wgd.4:exon9:c.A532G:p.I178V,CHIA:uc001eav.4:exon10:c.A532G:p.I178V,CHIA:uc001eas.4:exon10:c.A1015G:p.I339V, ENSG00000134216:ENST00000353665:exon8:c.A532G:p.I178V,ENSG00000134216:ENST00000430615:exon8:c.A691G:p.I231V,ENSG00000134216:ENST00000422815:exon7:c.A847G:p.I283V,ENSG00000134216:ENST00000343320:exon9:c.A1015G:p.I339V,ENSG00000134216:ENST00000489524:exon7:c.A532G:p.I178V,ENSG00000134216:ENST00000483391:exon6:c.A532G:p.I178V,ENSG00000134216:ENST00000369740:exon10:c.A1015G:p.I339V,ENSG00000134216:ENST00000451398:exon9:c.A532G:p.I178V, Het;A>G 1734;91|81 Hom;A>G 4042;0|147 N N - 1 111861974 111861974 T C snp nonsynonymous SNV T578C F193S aromatic,hydrophobic,neutral polar,hydrophilic,neutral CHIA Chia1 ENSG00000134216 chitinase, acidic chr1:111833484-111863188 The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Asthma|; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; longevity; respiratory syncytial virus bronchiolitis Homozygous knockout causes increased neutrophil and lymphocyte counts in bronchoalveolar lavage in certain pulmonary allergen exposure experiments, but immune response to various pulmonary allergen exposures is unchanged. Digestion of dietary carbohydrate GO:0000272;polysaccharide catabolic process;IEA|GO:0002376;immune system process;IEA|GO:0002532;production of molecular mediator involved in inflammatory response;IDA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006030;chitin metabolic process;IEA|GO:0006032;chitin catabolic process;IDA|GO:0006037;cell wall chitin metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0007586;digestion;NAS|GO:0008152;metabolic process;IEA|GO:0009620;response to fungus;TAS|GO:0090197;positive regulation of chemokine secretion;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IC|GO:0005737;cytoplasm;IEA GO:0003796;lysozyme activity;NAS|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004568;chitinase activity;TAS|GO:0008061;chitin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0019900;kinase binding;IPI|GO:0030246;carbohydrate binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/CHIA https://www.uniprot.org/uniprot/Q9BZP6 https://www.ncbi.nlm.nih.gov/omim/?term=606080 http://www.informatics.jax.org/searchtool/Search.do?query=CHIA&submit=Quick%0D%6932ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHIA rs2275254 0.442292 0.4995 0.5082 0.62 8 13 exonic exonic exonic CHIA CHIA ENSG00000134216 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CHIA:NM_001258005:exon10:c.T578C:p.F193S,CHIA:NM_001040623:exon9:c.T578C:p.F193S,CHIA:NM_001258004:exon11:c.T578C:p.F193S,CHIA:NM_001258001:exon10:c.T737C:p.F246S,CHIA:NM_001258003:exon9:c.T737C:p.F246S,CHIA:NM_001258002:exon7:c.T578C:p.F193S,CHIA:NM_201653:exon11:c.T1061C:p.F354S,CHIA:NM_021797:exon8:c.T737C:p.F246S, CHIA:uc001eaq.4:exon10:c.T737C:p.F246S,CHIA:uc001eat.4:exon7:c.T578C:p.F193S,CHIA:uc001eau.4:exon9:c.T578C:p.F193S,CHIA:uc009wgc.4:exon9:c.T737C:p.F246S,CHIA:uc001ear.4:exon8:c.T737C:p.F246S,CHIA:uc009wgd.4:exon10:c.T578C:p.F193S,CHIA:uc001eav.4:exon11:c.T578C:p.F193S,CHIA:uc001eas.4:exon11:c.T1061C:p.F354S, ENSG00000134216:ENST00000353665:exon9:c.T578C:p.F193S,ENSG00000134216:ENST00000430615:exon9:c.T737C:p.F246S,ENSG00000134216:ENST00000422815:exon8:c.T893C:p.F298S,ENSG00000134216:ENST00000343320:exon10:c.T1061C:p.F354S,ENSG00000134216:ENST00000489524:exon8:c.T578C:p.F193S,ENSG00000134216:ENST00000483391:exon7:c.T578C:p.F193S,ENSG00000134216:ENST00000369740:exon11:c.T1061C:p.F354S,ENSG00000134216:ENST00000451398:exon10:c.T578C:p.F193S, Het;T>C 1947;80|83 Hom;T>C 4719;0|167 N N - 1 111862952 111862952 T G snp nonsynonymous SNV T812G V271G aliphatic,hydrophobic,neutral aliphatic,neutral CHIA Chia1 ENSG00000134216 chitinase, acidic chr1:111833484-111863188 The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Asthma|; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; longevity; respiratory syncytial virus bronchiolitis Homozygous knockout causes increased neutrophil and lymphocyte counts in bronchoalveolar lavage in certain pulmonary allergen exposure experiments, but immune response to various pulmonary allergen exposures is unchanged. Digestion of dietary carbohydrate GO:0000272;polysaccharide catabolic process;IEA|GO:0002376;immune system process;IEA|GO:0002532;production of molecular mediator involved in inflammatory response;IDA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006030;chitin metabolic process;IEA|GO:0006032;chitin catabolic process;IDA|GO:0006037;cell wall chitin metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0007586;digestion;NAS|GO:0008152;metabolic process;IEA|GO:0009620;response to fungus;TAS|GO:0090197;positive regulation of chemokine secretion;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IC|GO:0005737;cytoplasm;IEA GO:0003796;lysozyme activity;NAS|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004568;chitinase activity;TAS|GO:0008061;chitin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0019900;kinase binding;IPI|GO:0030246;carbohydrate binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/CHIA https://www.uniprot.org/uniprot/Q9BZP6 https://www.ncbi.nlm.nih.gov/omim/?term=606080 http://www.informatics.jax.org/searchtool/Search.do?query=CHIA&submit=Quick%0D%6932ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHIA rs2256721 0.657348 0.7207 0.6552 0.08 1 13 exonic exonic exonic CHIA CHIA ENSG00000134216 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CHIA:NM_001258005:exon11:c.T812G:p.V271G,CHIA:NM_001040623:exon10:c.T812G:p.V271G,CHIA:NM_001258004:exon12:c.T812G:p.V271G,CHIA:NM_001258001:exon11:c.T971G:p.V324G,CHIA:NM_001258003:exon10:c.T971G:p.V324G,CHIA:NM_001258002:exon8:c.T812G:p.V271G,CHIA:NM_201653:exon12:c.T1295G:p.V432G,CHIA:NM_021797:exon9:c.T971G:p.V324G, CHIA:uc001eaq.4:exon11:c.T971G:p.V324G,CHIA:uc001eat.4:exon8:c.T812G:p.V271G,CHIA:uc001eau.4:exon10:c.T812G:p.V271G,CHIA:uc009wgc.4:exon10:c.T971G:p.V324G,CHIA:uc001ear.4:exon9:c.T971G:p.V324G,CHIA:uc009wgd.4:exon11:c.T812G:p.V271G,CHIA:uc001eav.4:exon12:c.T812G:p.V271G,CHIA:uc001eas.4:exon12:c.T1295G:p.V432G, ENSG00000134216:ENST00000353665:exon10:c.T812G:p.V271G,ENSG00000134216:ENST00000430615:exon10:c.T971G:p.V324G,ENSG00000134216:ENST00000422815:exon9:c.T1127G:p.V376G,ENSG00000134216:ENST00000343320:exon11:c.T1295G:p.V432G,ENSG00000134216:ENST00000489524:exon9:c.T812G:p.V271G,ENSG00000134216:ENST00000483391:exon8:c.T812G:p.V271G,ENSG00000134216:ENST00000369740:exon12:c.T1295G:p.V432G,ENSG00000134216:ENST00000451398:exon11:c.T812G:p.V271G, Het;T>G 1068;47|46 Hom;T>G 1592;0|55 N N - 1 112308953 112308953 T C snp nonsynonymous SNV T1907C I636T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral DDX20 Ddx20 ENSG00000064703 DEAD-box helicase 20 chr1:112297867-112310638 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008] Carcinoma, Renal Cell|Kidney Neoplasms|Neoplasm Recurrence, Local|Renal Cell Carcinoma; Arteries; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; bladder cancer; monocyte chemoattractant protein 1 (66-77); esophageal cancer Mice homozygous for a null allele fail to implant and develop past the 2-cell stage. Heterozygous null females are viable, healthy and fertile but show increased ovary weight, a greater number of empty follicles, a prolonged estrous phase, and reduced nocturnal and stress-induced serum ACTH levels. snRNP Assembly GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000244;spliceosomal tri-snRNP complex assembly;TAS|GO:0000387;spliceosomal snRNP assembly;TAS|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008380;RNA splicing;IEA|GO:0010501;RNA secondary structure unwinding;IBA|GO:0043065;positive regulation of apoptotic process;IGI|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048477;oogenesis;IEA|GO:0050810;regulation of steroid biosynthetic process;IEA|GO:0051170;nuclear import;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0016020;membrane;IDA|GO:0016604;nuclear body;IDA|GO:0017053;transcriptional repressor complex;IEA|GO:0032797;SMN complex;IDA|GO:0034719;SMN-Sm protein complex;IDA|GO:0090571;RNA polymerase II transcription repressor complex;IEA|GO:0097504;Gemini of coiled bodies;IEA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0030674;protein binding, bridging;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0070491;repressing transcription factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DDX20 https://www.uniprot.org/uniprot/Q9UHI6 https://www.ncbi.nlm.nih.gov/omim/?term=606168 http://www.informatics.jax.org/searchtool/Search.do?query=DDX20&submit=Quick%0D%1143ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX20 rs197412 0.474441 0.4840 0.4271 0.15 2 13 exonic exonic exonic DDX20 DDX20 ENSG00000064703 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV DDX20:NM_007204:exon11:c.T1907C:p.I636T, DDX20:uc010owf.2:exon10:c.T1193C:p.I398T,DDX20:uc001ebt.3:exon3:c.T731C:p.I244T,DDX20:uc001ebs.3:exon11:c.T1907C:p.I636T, ENSG00000064703:ENST00000369702:exon11:c.T1907C:p.I636T,ENSG00000064703:ENST00000475700:exon3:c.T731C:p.I244T, Het;T>C 1043;59|46 Hom;T>C 2272;0|78 N N - 1 11854476 11854476 T G snp nonsynonymous SNV A1286C E429A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral MTHFR Mthfr ENSG00000177000 methylenetetrahydrofolate reductase chr1:11845780-11866977 The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009] Mice homozygous for disruptions in this gene have elevated plasma levels of homocysteine. They also display delayed growth and development and a reduced survival rate. Metabolism of folate and pterines GO:0001666;response to hypoxia;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006555;methionine metabolic process;IGI|GO:0008015;blood circulation;TAS|GO:0008152;metabolic process;IEA|GO:0031060;regulation of histone methylation;IDA|GO:0033274;response to vitamin B2;IEA|GO:0035999;tetrahydrofolate interconversion;IDA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0046500;S-adenosylmethionine metabolic process;IEA|GO:0046653;tetrahydrofolate metabolic process;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0050667;homocysteine metabolic process;IDA|GO:0051593;response to folic acid;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070555;response to interleukin-1;IEA|GO:0070829;heterochromatin maintenance;IDA|GO:0001666;response to hypoxia;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006555;methionine metabolic process;IGI|GO:0008015;blood circulation;TAS|GO:0008152;metabolic process;IEA|GO:0031060;regulation of histone methylation;IDA|GO:0033274;response to vitamin B2;IEA|GO:0035999;tetrahydrofolate interconversion;IDA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0046500;S-adenosylmethionine metabolic process;IEA|GO:0046653;tetrahydrofolate metabolic process;IEA|GO:0046655;folic acid metabolic process;TAS|GO:0050667;homocysteine metabolic process;IDA|GO:0051593;response to folic acid;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0070555;response to interleukin-1;IEA|GO:0070829;heterochromatin maintenance;IDA GO:0005829;cytosol;TAS|GO:0045202;synapse;IEA GO:0003824;catalytic activity;IEA|GO:0004489;methylenetetrahydrofolate reductase (NAD(P)H) activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0032403;protein complex binding;IPI|GO:0050660;flavin adenine dinucleotide binding;IDA|GO:0050661;NADP binding;IEA|GO:0072341;modified amino acid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MTHFR https://www.uniprot.org/uniprot/P42898 https://hpo.jax.org/app/browse/search?q=MTHFR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607093 http://www.informatics.jax.org/searchtool/Search.do?query=MTHFR&submit=Quick%0D%228ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTHFR rs1801131 0.249401 0.2596 0.2950 0.54 7 13 exonic exonic exonic MTHFR MTHFR ENSG00000177000 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV MTHFR:NM_005957:exon8:c.A1286C:p.E429A, MTHFR:uc001atc.2:exon8:c.A1286C:p.E429A,MTHFR:uc001atb.1:exon7:c.A1355C:p.E452A,MTHFR:uc031plg.1:exon4:c.A551C:p.E184A, ENSG00000177000:ENST00000376583:exon8:c.A1409C:p.E470A,ENSG00000177000:ENST00000376585:exon9:c.A1409C:p.E470A,ENSG00000177000:ENST00000376592:exon7:c.A1286C:p.E429A,ENSG00000177000:ENST00000376590:exon8:c.A1286C:p.E429A, Het;T>G 514;58|29 Hom;T>G 2647;0|64 N N - 1 119985689 119985689 A G snp nonsynonymous SNV A496G K166E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) HSD3B2 Hsd3b1 ENSG00000203859 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 chr1:119957554-119965658 The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] chronic obstructive pulmonary disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; esophageal adenocarcinoma; prostate cancer; hypospadias; thyroid cancer; Lymphoma, Non-Hodgkin; body mass; Bone Mineral Density; breast cancer|prostate cancer; menarche menopause; bladder cancer; hyperandrogenism; premature pubarche; hypertension; hereditary and sporadic prostate cancer susceptibility.; precocious puberty; lung cancer ; hirsutism; pubarche; Type 2 Diabetes| edema | rosiglitazone; lung cancer Glucocorticoid biosynthesis GO:0006694;steroid biosynthetic process;IEA|GO:0006702;androgen biosynthetic process;TAS|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0006705;mineralocorticoid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;ISS|GO:0005758;mitochondrial intermembrane space;ISS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030868;smooth endoplasmic reticulum membrane;ISS|GO:0031966;mitochondrial membrane;IEA GO:0003824;catalytic activity;IEA|GO:0003854;3-beta-hydroxy-delta5-steroid dehydrogenase activity;IEA|GO:0004769;steroid delta-isomerase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HSD3B2 https://hpo.jax.org/app/browse/search?q=HSD3B2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613890 http://www.informatics.jax.org/searchtool/Search.do?query=HSD3B2&submit=Quick%0D%17154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSD3B2 rs34576800 0.0177716 0 0.0202 1 0 0 intergenic exonic ncRNA_exonic HSD3B2(dist=20027),HSD3B1(dist=64137) HSD3B2 ENSG00000203858 Na nonsynonymous SNV Na Na HSD3B2:uc001ehu.3:exon4:c.A496G:p.K166E, Na Het;A>G 150;10|8 Hom;A>G 493;0|19 N N - 1 12252955 12252955 T G snp nonsynonymous SNV T587G M196R hydrophobic,neutral polar,hydrophilic,charged(+) TNFRSF1B Tnfrsf1b ENSG00000028137 TNF receptor superfamily member 1B chr1:12227060-12269285 The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008] atherosclerosis, coronary; Arthritis, Rheumatoid; Coronary Disease|Coronary heart disease; systemic lupus erythematosus; benzene haematotoxicity; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Oesophageal neoplasm|Squamous cell carcinoma; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; endometriosis; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Measles|Mumps|Rubella; Alzheimer's disease; Arthritis, Rheumatoid|Rheumatoid Arthritis; sclerosis, systemic; HTLV-1 infection; uveitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lupus erythematosus; Spondylitis, Ankylosing; Lymphoma, Non-Hodgkin; Fractures, Bone|Osteoporosis, Postmenopausal; Inflammation|Myocardial Infarction; inflammatory bowel disease ; Arthritis, Rheumatoid|; rheumatoid arthritis; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; obesity; polycystic ovarian syndrome; hyperandrogenism; atherosclerosis; narcolepsy; osteoarthritis; Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis; Inflammation|Premature Birth; idiopathic pulmonary fibrosis; diabetes, type 2; nephropathy in other diseases; Infection|Inflammation|Premature Birth; Arthritis, Psoriatic|Psoriatic arthropathy; arthritis; respiratory syncytial virus bronchiolitis; Graft vs Host Disease|Leukemia; Hypertension|Insulin Resistance; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Leukemia, Lymphocytic, Chronic, B-Cell; alcohol; Behcet Syndrome|Uveitis; Rheumatic Diseases|Rheumatism; Multiple Myeloma; bone mass; Premature Birth; Osteoporosis; human narcolepsy.; Crohn's disease; antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis; pneumonia; schizophrenia; hypertension; Lymphoproliferative Disorders; Thyroiditis, Autoimmune; breast cancer; sepsis; Adrenal Hyperplasia, Congenital|Hyperandrogenism; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; patent ductus arteriosus; Osteoporosis, Postmenopausal; Graft vs Host Disease; coronary artery disease; autoimmune disease; silicosis; Aspergillosis|Lung Diseases, Fungal; Anemia, Aplastic|Aplastic anemia|Genetic Diseases, Inborn|Graft vs Host Disease|Hematologic Neoplasms|Recurrence; diabetes, type 2; Crohn Disease|Rectal Fistula; Liver Diseases, Alcoholic; periodontitis; null; Colitis, Ulcerative|Crohn Disease|; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; obesity; Bacteremia|; Endometriosis; ovarian cancer; bone density; psoriatic arthritis; Arthritis, Rheumatoid|Cardiovascular Diseases|Hypertension|Myocardial Ischemia|Pulmonary Embolism|Stroke|Venous Thrombosis; anemia, iron deficiency; anemia of chronic disease; bone mineral density; lung cancer; systemic lupus erythematosus; Buerger's disease; connective tissue disease, mixed; Takayasu's arteritis; pulmonary fibrosis; pneumoconiosis, coal workers'; Type 2 diabetes; Bone Mineral Density; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Lupus Erythematosus, Systemic; Crohn's disease; ulcerative colitis; lymphoma; chronic obstructive pulmonary disease/COPD; Rheumatoid Arthritis; Lupus; Obesity; tuberculosis ; Hypercholesterolemia|LDLC levels; lung cancer ; Crohn Disease; preterm delivery; multiple sclerosis; Schizophrenia; Rubella; arthritis, juvenile; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; myelopathy, HTLV-1 associated; Lichen Planus, Oral; Chronic renal failure|Kidney Failure, Chronic; diabetes, type 1; Arthritis, Rheumatoid|Osteoarthritis, Knee; Carcinoma, Squamous Cell|Mouth Neoplasms Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria. Neutrophil degranulation GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IBA|GO:0007568;aging;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050779;RNA destabilization;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IMP|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0097190;apoptotic signaling pathway;IBA|GO:0097191;extrinsic apoptotic signaling pathway;IEA GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0035579;specific granule membrane;TAS|GO:0043025;neuronal cell body;IEA|GO:0043196;varicosity;IEA|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF1B https://www.uniprot.org/uniprot/P20333 https://hpo.jax.org/app/browse/search?q=TNFRSF1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=191191 http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF1B&submit=Quick%0D%722ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF1B rs1061622 0.194688 0.2305 0.2249 0.08 1 13 exonic exonic exonic TNFRSF1B TNFRSF1B ENSG00000028137 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV TNFRSF1B:NM_001066:exon6:c.T587G:p.M196R, TNFRSF1B:uc001att.3:exon6:c.T587G:p.M196R,TNFRSF1B:uc001atu.3:exon5:c.T2G:p.M1R, ENSG00000028137:ENST00000376259:exon6:c.T587G:p.M196R, Het;T>G 1088;61|52 Hom;T>G 3466;0|118 N N - 1 1249187 1249187 G A snp nonsynonymous SNV C817T R273C polar,hydrophilic,charged(+) polar,hydrophobic,neutral INTS11 rs12142199 0.310104 0.5864 0.5791 1 0 0 exonic exonic exonic CPSF3L CPSF3L ENSG00000127054 synonymous SNV synonymous SNV nonsynonymous SNV CPSF3L:NM_017871:exon9:c.C882T:p.F294F,CPSF3L:NM_001256460:exon10:c.C795T:p.F265F,CPSF3L:NM_001256463:exon7:c.C579T:p.F193F,CPSF3L:NM_001256456:exon11:c.C900T:p.F300F,CPSF3L:NM_001256462:exon7:c.C588T:p.F196F, CPSF3L:uc001aek.2:exon6:c.C108T:p.F36F,CPSF3L:uc001aef.2:exon11:c.C900T:p.F300F,CPSF3L:uc001aee.2:exon9:c.C882T:p.F294F,CPSF3L:uc009vjz.2:exon9:c.C816T:p.F272F,CPSF3L:uc001aei.2:exon7:c.C588T:p.F196F,CPSF3L:uc010nyj.2:exon10:c.C795T:p.F265F,CPSF3L:uc001aeh.2:exon7:c.C579T:p.F193F,CPSF3L:uc001aeg.2:exon8:c.C510T:p.F170F, ENSG00000127054:ENST00000528879:exon8:c.C817T:p.R273C, Het;G>A 1309;73|67 Hom;G>A 3067;0|115 N N - 1 12776344 12776344 A T snp nonsynonymous SNV A1T M1L hydrophobic,neutral aliphatic,hydrophobic,neutral AADACL3 Aadacl3 ENSG00000188984 arylacetamide deacetylase like 3 chr1:12776118-12788726 GO:0008152;metabolic process;IEA|GO:0009056;catabolic process;IBA GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AADACL3 http://www.informatics.jax.org/searchtool/Search.do?query=AADACL3&submit=Quick%0D%16149ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AADACL3 rs3000859 0.65655 0.7263 0.7779 1 0 0 exonic exonic exonic AADACL3 AADACL3 ENSG00000188984 unknown nonsynonymous SNV nonsynonymous SNV UNKNOWN AADACL3:uc001aug.1:exon1:c.A1T:p.M1L, ENSG00000188984:ENST00000332530:exon1:c.A1T:p.M1L, Het;A>T 524;22|23 Hom;A>T 1077;0|36 N N - 1 12779618 12779618 T C snp nonsynonymous SNV T139C S47P polar,hydrophilic,neutral hydrophobic,neutral AADACL3 Aadacl3 ENSG00000188984 arylacetamide deacetylase like 3 chr1:12776118-12788726 GO:0008152;metabolic process;IEA|GO:0009056;catabolic process;IBA GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AADACL3 http://www.informatics.jax.org/searchtool/Search.do?query=AADACL3&submit=Quick%0D%16149ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AADACL3 rs3010877 0.848043 0.8575 0.8317 1 0 0 exonic exonic exonic AADACL3 AADACL3 ENSG00000188984 unknown nonsynonymous SNV nonsynonymous SNV UNKNOWN AADACL3:uc009vnn.1:exon2:c.T139C:p.S47P, ENSG00000188984:ENST00000359318:exon2:c.T139C:p.S47P, Het;T>C 2311;133|113 Hom;T>C 6834;0|250 N N - 1 12820870 12820870 T C snp nonsynonymous SNV T571C F191L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C1orf158 1700012P22Rik ENSG00000157330 chromosome 1 open reading frame 158 chr1:12806163-12823847 http://www.genecards.org/index.php?path=/Search/keyword/C1orf158 http://www.informatics.jax.org/searchtool/Search.do?query=C1orf158&submit=Quick%0D%10081ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C1orf158 rs1132185 0.823482 0.8246 0.7952 1 0 0 exonic exonic exonic C1orf158 C1orf158 ENSG00000157330 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV C1orf158:NM_152290:exon4:c.T571C:p.F191L, C1orf158:uc001auh.3:exon4:c.T571C:p.F191L, ENSG00000157330:ENST00000376210:exon3:c.T457C:p.F153L,ENSG00000157330:ENST00000288048:exon4:c.T571C:p.F191L, Het;T>C 2468;149|117 Hom;T>C 7125;2|259 N N - 1 12854530 12854530 C G snp nonsynonymous SNV C754G Q252E polar,hydrophilic,neutral polar,hydrophilic,charged(-) PRAMEF1 ENSG00000116721 PRAME family member 1 chr1:12851546-12856777 This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. [provided by RefSeq, Jun 2014] GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF1 https://www.uniprot.org/uniprot/O95521 http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF1&submit=Quick%0D%4777ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF1 rs1063776 0.867212 0.8728 0.8553 1 0 0 exonic exonic exonic PRAMEF1 PRAMEF1 ENSG00000116721 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV PRAMEF1:NM_023013:exon3:c.C754G:p.Q252E, PRAMEF1:uc001auj.2:exon3:c.C754G:p.Q252E, ENSG00000116721:ENST00000332296:exon3:c.C754G:p.Q252E, Het;C>G 3664;164|169 Hom;C>G 6775;0|240 N N - 1 150526044 150526044 G C snp nonsynonymous SNV G577C A193P aliphatic,hydrophobic,neutral hydrophobic,neutral ADAMTSL4 Adamtsl4 ENSG00000143382 ADAMTS like 4 chr1:150521884-150533413 This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014] ECTOPIA LENTIS ET PUPILLAE O-glycosylation of TSR domain-containing proteins GO:0002064;epithelial cell development;IEA|GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0036066;protein O-linked fucosylation;TAS|GO:0043065;positive regulation of apoptotic process;IDA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA GO:0002020;protease binding;IPI|GO:0004222;metalloendopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTSL4 https://www.uniprot.org/uniprot/Q6UY14 https://hpo.jax.org/app/browse/search?q=ADAMTSL4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610113 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTSL4&submit=Quick%0D%8430ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTSL4 rs41317515 0.528355 0.5471 0.5231 0.08 1 12 exonic exonic exonic ADAMTSL4 ADAMTSL4 ENSG00000143382 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV ADAMTSL4:NM_019032:exon6:c.G577C:p.A193P,ADAMTSL4:NM_001288607:exon6:c.G577C:p.A193P,ADAMTSL4:NM_001288608:exon6:c.G577C:p.A193P,ADAMTSL4:NM_025008:exon6:c.G577C:p.A193P, ADAMTSL4:uc009wlw.3:exon5:c.G577C:p.A193P,ADAMTSL4:uc001euw.3:exon6:c.G577C:p.A193P,ADAMTSL4:uc001eux.3:exon6:c.G577C:p.A193P,ADAMTSL4:uc010pcg.2:exon5:c.G577C:p.A193P, ENSG00000143382:ENST00000369038:exon4:c.G577C:p.A193P,ENSG00000143382:ENST00000369039:exon5:c.G577C:p.A193P,ENSG00000143382:ENST00000271643:exon6:c.G577C:p.A193P,ENSG00000143382:ENST00000369041:exon6:c.G577C:p.A193P, Het;G>C 1467;104|72 Hom;G>C 4179;0|152 N N - 1 152185790 152185790 T C snp nonsynonymous SNV A8315G H2772R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) HRNR ENSG00000197915 hornerin chr1:152184558-152196669 Dermatitis, Atopic| Neutrophil degranulation GO:0007275;multicellular organism development;IEA|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0061436;establishment of skin barrier;IEP GO:0001533;cornified envelope;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0036457;keratohyalin granule;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HRNR https://www.ncbi.nlm.nih.gov/omim/?term=616293 http://www.informatics.jax.org/searchtool/Search.do?query=HRNR&submit=Quick%0D%16753ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HRNR rs76102381 0.322883 0 0.3570 0.08 1 12 exonic exonic exonic HRNR HRNR ENSG00000197915 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV HRNR:NM_001009931:exon3:c.A8315G:p.H2772R, HRNR:uc001ezt.2:exon3:c.A8315G:p.H2772R, ENSG00000197915:ENST00000368801:exon3:c.A8315G:p.H2772R, Het;T>C 596;2|14 Hom;T>C 647;0|14 N N - 1 152185796 152185796 A G snp nonsynonymous SNV T8309C L2770P aliphatic,hydrophobic,neutral hydrophobic,neutral HRNR ENSG00000197915 hornerin chr1:152184558-152196669 Dermatitis, Atopic| Neutrophil degranulation GO:0007275;multicellular organism development;IEA|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0061436;establishment of skin barrier;IEP GO:0001533;cornified envelope;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0036457;keratohyalin granule;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046914;transition metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HRNR https://www.ncbi.nlm.nih.gov/omim/?term=616293 http://www.informatics.jax.org/searchtool/Search.do?query=HRNR&submit=Quick%0D%16753ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HRNR rs41266118 0.322883 0 0.0893 0.08 1 12 exonic exonic exonic HRNR HRNR ENSG00000197915 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV HRNR:NM_001009931:exon3:c.T8309C:p.L2770P, HRNR:uc001ezt.2:exon3:c.T8309C:p.L2770P, ENSG00000197915:ENST00000368801:exon3:c.T8309C:p.L2770P, Het;A>G 512;2|12 Hom;A>G 512;0|11 N N - 1 152732106 152732106 A T snp nonsynonymous SNV A42T Q14H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) KPRP Kprp ENSG00000203786 keratinocyte proline rich protein chr1:152730506-152734529 This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016] GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KPRP https://www.ncbi.nlm.nih.gov/omim/?term=613260 http://www.informatics.jax.org/searchtool/Search.do?query=KPRP&submit=Quick%0D%17142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KPRP rs17612167 0.177117 0.1682 0.2249 0.20 2 10 exonic exonic exonic KPRP KPRP ENSG00000203786 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV KPRP:NM_001025231:exon2:c.A42T:p.Q14H, KPRP:uc021ozf.1:exon1:c.A42T:p.Q14H,KPRP:uc001fal.1:exon2:c.A42T:p.Q14H, ENSG00000203786:ENST00000606109:exon1:c.A42T:p.Q14H,ENSG00000203786:ENST00000368773:exon2:c.A42T:p.Q14H, Het;A>T 2298;96|106 Hom;A>T 4996;0|182 N N - 1 154426970 154426970 A C snp nonsynonymous SNV A1073C D358A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral IL6R Il6ra ENSG00000160712 interleukin 6 receptor chr1:154377669-154441926 This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011] chronic obstructive pulmonary disease; Behcet Syndrome|; schizophrenia; Multiple Myeloma|Myelodysplastic Syndromes; Chronic renal failure|Kidney Failure, Chronic; C-Reactive Protein; Multiple Myeloma; celiac disease; protein quantitative trait loci; Fibrinogen; rheumatoid arthritis; Asthma|; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Obesity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Infection|Inflammation|Premature Birth; asthma; soluble IL-6 receptor; Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Tobacco Use Disorder; Coronary Artery Disease; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Receptors, Interleukin-6; Infection|Premature Birth; Alzheimer's disease ; Melanoma|Skin Neoplasms; Premature Birth; Coronary Disease; obesity; hyperandrogenism; esophageal adenocarcinoma; esophageal cancer ; fibrinogen; pulmonary function traits (other); normal variation; diabetes, type 2; insulin; diabetic nephropathy; obesity; null; preterm delivery; C-reactive protein; Type 2 diabetes; Arthritis, Rheumatoid|Rheumatoid Arthritis; Bone Mineral Density; respiratory syncytial virus bronchiolitis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Inflammation|Premature Birth; Maximal Midexpiratory Flow Rate; obesity; periodontitis; longevity; IL6 preterm delivery; bladder cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; lung cancer ; diabetes, type 2; glucose tolerance; obesity; diabetes, type 2; lung cancer; Diabetes Mellitus|; body mass metabolic syndrome; benzene haematotoxicity Mice homozygous for a null allele exhibit defective T helper 17 cells development. Mice homozygous for a different knock-out allele exhibit abnormaly inflammatory response and abnormal wound healing. Interleukin-4 and 13 signaling GO:0002384;hepatic immune response;TAS|GO:0002548;monocyte chemotaxis;IC|GO:0002690;positive regulation of leukocyte chemotaxis;TAS|GO:0006953;acute-phase response;TAS|GO:0008284;positive regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IDA|GO:0031018;endocrine pancreas development;IC|GO:0032722;positive regulation of chemokine production;IDA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0034097;response to cytokine;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IMP|GO:0045669;positive regulation of osteoblast differentiation;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050829;defense response to Gram-negative bacterium;TAS|GO:0070102;interleukin-6-mediated signaling pathway;IMP|GO:0070120;ciliary neurotrophic factor-mediated signaling pathway;IMP|GO:0097191;extrinsic apoptotic signaling pathway;TAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005896;interleukin-6 receptor complex;IDA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070110;ciliary neurotrophic factor receptor complex;IDA GO:0004896;cytokine receptor activity;IEA|GO:0004897;ciliary neurotrophic factor receptor activity;IMP|GO:0004915;interleukin-6 receptor activity;IDA|GO:0005138;interleukin-6 receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019981;interleukin-6 binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0070119;ciliary neurotrophic factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IL6R https://www.ncbi.nlm.nih.gov/omim/?term=147880 http://www.informatics.jax.org/searchtool/Search.do?query=IL6R&submit=Quick%0D%10498ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL6R rs2228145 0.293131 0.3169 0.3756 0.15 2 13 exonic exonic exonic IL6R IL6R ENSG00000160712 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV IL6R:NM_000565:exon9:c.A1073C:p.D358A, IL6R:uc001fez.2:exon9:c.A1073C:p.D358A, ENSG00000160712:ENST00000368485:exon9:c.A1073C:p.D358A, Het;A>C 934;46|45 Hom;A>C 1774;0|64 N N - 1 155162067 155162067 C T snp nonsynonymous SNV G212A R71Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral MUC1 Muc1 ENSG00000185499 mucin 1, cell surface associated chr1:155158300-155162707 This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011] Magnesium; Asthma; Carcinoma|Stomach Neoplasms; prostate cancer; respiratory syncytial virus bronchiolitis; Chronic renal failure|Kidney Failure, Chronic; gastritis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Krebs von den Lungen-6 Levels; Dry Eye Syndromes|; gastritis; intestinal metaplasia; Stomach Neoplasms; gastritis, chronic atrophic; metaplasia, intestinal; ovarian cancer; asthma; atopy; Autism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Helicobacter Infections|Stomach Neoplasms; endometrial carcinoma; lung cancer; premalignant oral lesions and oral squamous cell carcinoma; epithelial ovarian cancer ; breast cancer Mice homozygous for a knock-out allele display delayed mammary tumor progression, impaired intestinal absorption of cholesterol, decreased gastric mucus accumulation, reduced secretion and accumulation of gallbladder mucin, and decreased susceptibility to cholesterol gallstone formation. Termination of O-glycan biosynthesis GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;IDA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IDA|GO:0007565;female pregnancy;IEA|GO:0010944;negative regulation of transcription by competitive promoter binding;IDA|GO:0016266;O-glycan processing;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IDA|GO:0036003;positive regulation of transcription from RNA polymerase II promoter in response to stress;IDA|GO:0043618;regulation of transcription from RNA polymerase II promoter in response to stress;IDA|GO:0071300;cellular response to retinoic acid;IEA|GO:0090240;positive regulation of histone H4 acetylation;IDA|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0001666;response to hypoxia;IEA|GO:0001701;in utero embryonic development;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;IDA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IDA|GO:0007565;female pregnancy;IEA|GO:0010944;negative regulation of transcription by competitive promoter binding;IDA|GO:0016266;O-glycan processing;TAS|GO:0030855;epithelial cell differentiation;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IDA|GO:0036003;positive regulation of transcription from RNA polymerase II promoter in response to stress;IDA|GO:0043618;regulation of transcription from RNA polymerase II promoter in response to stress;IDA|GO:0071300;cellular response to retinoic acid;IEA|GO:0090240;positive regulation of histone H4 acetylation;IDA|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA GO:0000790;nuclear chromatin;IDA|GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0002039;p53 binding;IPI|GO:0003712;transcription cofactor activity;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC1 https://www.uniprot.org/uniprot/P15941 https://hpo.jax.org/app/browse/search?q=MUC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=158340 http://www.informatics.jax.org/searchtool/Search.do?query=MUC1&submit=Quick%0D%46ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC1 rs4072037 0.628794 0.5724 0.5790 0.25 1 4 exonic exonic exonic MUC1 MUC1 ENSG00000185499 synonymous SNV nonsynonymous SNV synonymous SNV MUC1:NM_001204286:exon2:c.G93A:p.T31T,MUC1:NM_001204293:exon2:c.G66A:p.T22T,MUC1:NM_002456:exon2:c.G66A:p.T22T,MUC1:NM_001204291:exon2:c.G93A:p.T31T,MUC1:NM_001204292:exon2:c.G93A:p.T31T,MUC1:NM_001018016:exon2:c.G93A:p.T31T,MUC1:NM_001044392:exon2:c.G93A:p.T31T,MUC1:NM_001044391:exon2:c.G66A:p.T22T,MUC1:NM_001204289:exon2:c.G93A:p.T31T,MUC1:NM_001204285:exon2:c.G66A:p.T22T,MUC1:NM_001044393:exon2:c.G66A:p.T22T,MUC1:NM_001204296:exon2:c.G93A:p.T31T,MUC1:NM_001204287:exon2:c.G93A:p.T31T,MUC1:NM_001204297:exon2:c.G93A:p.T31T,MUC1:NM_001204288:exon2:c.G93A:p.T31T,MUC1:NM_001204295:exon2:c.G93A:p.T31T,MUC1:NM_001018017:exon2:c.G66A:p.T22T,MUC1:NM_001044390:exon2:c.G66A:p.T22T,MUC1:NM_001204294:exon2:c.G66A:p.T22T, MUC1:uc010pfh.2:exon2:c.G212A:p.R71Q,MUC1:uc010pff.2:exon1:c.G212A:p.R71Q,MUC1:uc010pfi.2:exon1:c.G212A:p.R71Q,MUC1:uc010pfj.2:exon1:c.G212A:p.R71Q, ENSG00000185499:ENST00000368393:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000368398:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000343256:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000368396:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000368390:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000368395:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000342482:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000368392:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000457295:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000337604:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000438413:exon2:c.G66A:p.T22T,ENSG00000185499:ENST00000338684:exon2:c.G93A:p.T31T,ENSG00000185499:ENST00000368389:exon2:c.G66A:p.T22T, Het;C>T 752;51|37 Hom;C>T 1969;0|71 N N - 1 155178782 155178782 A T snp nonsynonymous SNV A187T T63S polar,hydrophilic,neutral polar,hydrophilic,neutral MTX1 Mtx1 ENSG00000173171 metaxin 1 chr1:155178490-155183615 Acquired Immunodeficiency Syndrome|Disease Progression Cristae formation GO:0006626;protein targeting to mitochondrion;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTX1 https://www.ncbi.nlm.nih.gov/omim/?term=600605 http://www.informatics.jax.org/searchtool/Search.do?query=MTX1&submit=Quick%0D%13303ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTX1 rs760077 0.666733 0.6294 0.6688 1 0 0 exonic exonic exonic MTX1 MTX1 ENSG00000173171 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV MTX1:NM_198883:exon1:c.A187T:p.T63S,MTX1:NM_002455:exon1:c.A187T:p.T63S, MTX1:uc001fjb.3:exon1:c.A187T:p.T63S,MTX1:uc001fjc.3:exon1:c.A187T:p.T63S, ENSG00000173171:ENST00000316721:exon1:c.A187T:p.T63S,ENSG00000173171:ENST00000368376:exon1:c.A187T:p.T63S, Het;A>T 335;32|18 Hom;A>T 1607;0|56 N N - 1 155880573 155880573 C G snp nonsynonymous SNV G31C E11Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral RIT1 Rit1 ENSG00000143622 Ras like without CAAX 1 chr1:155867599-155881195 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Conduct Disorder; Conduct disorder (interaction) Mice homozygous for a knock-out allele produce embryonic fibroblasts that exhibit increased cellular sensitivity to hydrogen peroxide. Signalling to p38 via RIT and RIN GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;IDA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;TAS|GO:0005525;GTP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RIT1 https://www.uniprot.org/uniprot/Q92963 https://hpo.jax.org/app/browse/search?q=RIT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609591 http://www.informatics.jax.org/searchtool/Search.do?query=RIT1&submit=Quick%0D%8486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIT1 rs493446 0.779952 0.7952 0.8775 0.11 1 9 exonic exonic exonic RIT1 RIT1 ENSG00000143622 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV RIT1:NM_001256821:exon2:c.G31C:p.E11Q, RIT1:uc031pqc.1:exon2:c.G31C:p.E11Q, ENSG00000143622:ENST00000368322:exon2:c.G31C:p.E11Q, Het;C>G 1727;62|77 Hom;C>G 3047;0|110 N N - 1 156354347 156354348 TC T indel frameshift substitution 1057_1058T RHBG Rhbg ENSG00000132677 Rh family B glycoprotein (gene/pseudogene) chr1:156339003-156355011 This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele are viable, do not develop hyperammonemic hepatic encephalopathy or distal tubular acidosis, and show a normal renal response to chronic acid-loading and no changes in NH4+ or NH3 entry across the basolateral membrane of cortical collecting ducts cells. Rhesus glycoproteins mediate ammonium transport. GO:0006810;transport;IEA|GO:0015695;organic cation transport;IBA|GO:0015696;ammonium transport;IDA|GO:0070634;transepithelial ammonium transport;IDA|GO:0072488;ammonium transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0014731;spectrin-associated cytoskeleton;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0046658;anchored component of plasma membrane;IMP GO:0008519;ammonium transmembrane transporter activity;TAS|GO:0030506;ankyrin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RHBG https://www.uniprot.org/uniprot/Q9H310 https://www.ncbi.nlm.nih.gov/omim/?term=607079 http://www.informatics.jax.org/searchtool/Search.do?query=RHBG&submit=Quick%0D%6720ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RHBG rs11303415 0.422923 0 0.3226 1 0 0 exonic exonic exonic;splicing RHBG RHBG ENSG00000132677;ENSG00000132677 nonframeshift substitution frameshift substitution frameshift substitution RHBG:NM_001256396:exon10:c.1174_1174T,RHBG:NM_020407:exon9:c.1264_1264T,RHBG:NM_001256395:exon10:c.1057_1057T, RHBG:uc031pqn.1:exon10:c.1057_1058T,RHBG:uc010pho.3:exon9:c.1264_1265T,RHBG:uc031pqo.1:exon10:c.1174_1175T,RHBG:uc009wrz.4:exon9:c.1168_1169T, ENSG00000132677:ENST00000255013:exon10:c.1057_1058T,ENSG00000132677:ENST00000368249:exon9:c.1264_1265T,ENSG00000132677:ENST00000400992:exon9:c.1168_1169T, Het;-C 1993;95|84 Hom;-C 6221;0|208 N N - 1 156784982 156784982 T C snp nonsynonymous SNV A155G N52S polar,hydrophilic,neutral polar,hydrophilic,neutral SH2D2A Sh2d2a ENSG00000027869 SH2 domain containing 2A chr1:156776035-156786654 This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Type 2 Diabetes| edema | rosiglitazone; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; rheumatoid arthritis; Celiac Disease|; Multiple Sclerosis; multiple sclerosis While T cell development is normal, T cell proliferation in response to TCR-mediated activation is impaired in homozygous null mice. VEGFA-VEGFR2 Pathway GO:0001525;angiogenesis;IEA|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0030154;cell differentiation;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH2D2A https://www.uniprot.org/uniprot/Q9NP31 https://www.ncbi.nlm.nih.gov/omim/?term=604514 http://www.informatics.jax.org/searchtool/Search.do?query=SH2D2A&submit=Quick%0D%720ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2D2A rs926103 0.59365 0.5529 0.6612 0.08 1 13 exonic exonic exonic SH2D2A SH2D2A ENSG00000027869 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV SH2D2A:NM_001161441:exon3:c.A155G:p.N52S,SH2D2A:NM_001161442:exon3:c.A101G:p.N34S,SH2D2A:NM_003975:exon3:c.A155G:p.N52S,SH2D2A:NM_001161443:exon2:c.A71G:p.N24S,SH2D2A:NM_001161444:exon3:c.A155G:p.N52S, SH2D2A:uc001fqc.1:exon2:c.A71G:p.N24S,SH2D2A:uc001fqd.2:exon3:c.A155G:p.N52S,SH2D2A:uc009wsh.2:exon3:c.A155G:p.N52S,SH2D2A:uc010phs.1:exon3:c.A155G:p.N52S,SH2D2A:uc001fqe.2:exon3:c.A101G:p.N34S, ENSG00000027869:ENST00000368199:exon3:c.A155G:p.N52S,ENSG00000027869:ENST00000368198:exon3:c.A101G:p.N34S,ENSG00000027869:ENST00000392306:exon3:c.A155G:p.N52S, Het;T>C 274;17|10 Hom;T>C 853;0|30 N N - 1 158735595 158735595 C T snp nonsynonymous SNV G878A R293H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) OR6N1 Olfr429 ENSG00000197403 olfactory receptor family 6 subfamily N member 1 chr1:158735466-158736492 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR6N1 http://www.informatics.jax.org/searchtool/Search.do?query=OR6N1&submit=Quick%0D%16614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6N1 rs857824 0.667931 0.7380 0.6795 0.38 5 13 exonic exonic exonic OR6N1 OR6N1 ENSG00000197403 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV OR6N1:NM_001005185:exon1:c.G878A:p.R293H, OR6N1:uc010piq.2:exon1:c.G878A:p.R293H, ENSG00000197403:ENST00000335094:exon1:c.G878A:p.R293H, Het;C>T 487;29|22 Hom;C>T 1800;0|66 N N - 1 158735691 158735691 T C snp nonsynonymous SNV A782G Q261R polar,hydrophilic,neutral polar,hydrophilic,charged(+) OR6N1 Olfr429 ENSG00000197403 olfactory receptor family 6 subfamily N member 1 chr1:158735466-158736492 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR6N1 http://www.informatics.jax.org/searchtool/Search.do?query=OR6N1&submit=Quick%0D%16614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6N1 rs857825 0.667931 0.7380 0.6795 0.23 3 13 exonic exonic exonic OR6N1 OR6N1 ENSG00000197403 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV OR6N1:NM_001005185:exon1:c.A782G:p.Q261R, OR6N1:uc010piq.2:exon1:c.A782G:p.Q261R, ENSG00000197403:ENST00000335094:exon1:c.A782G:p.Q261R, Het;T>C 674;53|31 Hom;T>C 2741;0|95 N N - 1 158735740 158735740 A G snp nonsynonymous SNV T733C F245L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR6N1 Olfr429 ENSG00000197403 olfactory receptor family 6 subfamily N member 1 chr1:158735466-158736492 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR6N1 http://www.informatics.jax.org/searchtool/Search.do?query=OR6N1&submit=Quick%0D%16614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6N1 rs857826 0.667931 0.7380 0.6796 0.23 3 13 exonic exonic exonic OR6N1 OR6N1 ENSG00000197403 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV OR6N1:NM_001005185:exon1:c.T733C:p.F245L, OR6N1:uc010piq.2:exon1:c.T733C:p.F245L, ENSG00000197403:ENST00000335094:exon1:c.T733C:p.F245L, Het;A>G 998;43|40 Hom;A>G 3216;0|106 N N - 1 158735892 158735892 A G snp nonsynonymous SNV T581C I194T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral OR6N1 Olfr429 ENSG00000197403 olfactory receptor family 6 subfamily N member 1 chr1:158735466-158736492 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR6N1 http://www.informatics.jax.org/searchtool/Search.do?query=OR6N1&submit=Quick%0D%16614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6N1 rs857827 0.667931 0.7380 0.6796 0.15 2 13 exonic exonic exonic OR6N1 OR6N1 ENSG00000197403 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV OR6N1:NM_001005185:exon1:c.T581C:p.I194T, OR6N1:uc010piq.2:exon1:c.T581C:p.I194T, ENSG00000197403:ENST00000335094:exon1:c.T581C:p.I194T, Het;A>G 1345;64|63 Hom;A>G 4319;1|150 N N - 1 159409857 159409857 A G snp nonsynonymous SNV A309G I103M aliphatic,hydrophobic,neutral hydrophobic,neutral OR10J1 Olfr418 ENSG00000196184 olfactory receptor family 10 subfamily J member 1 chr1:159409512-159410600 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Hematocrit; Cardiovascular Diseases; Hemoglobins; hemostatic factors and hematological phenotypes; select biomarker traits; plasma chemerin levels Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007338;single fertilization;TAS|GO:0007606;sensory perception of chemical stimulus;TAS|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR10J1 http://www.informatics.jax.org/searchtool/Search.do?query=OR10J1&submit=Quick%0D%16282ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR10J1 rs12048482 0.479633 0.5882 0.5630 0.54 7 13 exonic exonic exonic OR10J1 OR10J1 ENSG00000196184 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV OR10J1:NM_012351:exon1:c.A309G:p.I103M, OR10J1:uc010piv.2:exon1:c.A309G:p.I103M, ENSG00000196184:ENST00000423932:exon1:c.A309G:p.I103M, Het;A>G 785;54|37 Hom;A>G 4026;0|144 N N - 1 161163037 161163037 T C snp nonsynonymous SNV A1877G Q626R polar,hydrophilic,neutral polar,hydrophilic,charged(+) ADAMTS4 Adamts4 ENSG00000158859 ADAM metallopeptidase with thrombospondin type 1 motif 4 chr1:161154098-161168846 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016] plasma HDL cholesterol (HDL-C) levels; schizophrenia Homozygous mutant mice do not exhibit any morphological abnormalities. However, they do display impaired coordination and an increased susceptibility to pharmacologically induced seizures. O-glycosylation of TSR domain-containing proteins GO:0001501;skeletal system development;TAS|GO:0006508;proteolysis;TAS|GO:0022617;extracellular matrix disassembly;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016607;nuclear speck;IDA|GO:0031012;extracellular matrix;IDA GO:0002020;protease binding;IPI|GO:0004222;metalloendopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;TAS|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS4 https://www.ncbi.nlm.nih.gov/omim/?term=603876 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS4&submit=Quick%0D%10262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS4 rs4233367 0.706869 0.6028 0.6623 0.08 1 13 exonic exonic exonic ADAMTS4 ADAMTS4 ENSG00000158859 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV ADAMTS4:NM_005099:exon7:c.A1877G:p.Q626R, ADAMTS4:uc001fyt.4:exon7:c.A1877G:p.Q626R, ENSG00000158859:ENST00000367996:exon7:c.A1877G:p.Q626R, Het;T>C 445;22|21 Hom;T>C 1393;0|51 N N - 1 16380243 16380243 A G snp nonsynonymous SNV A1732G K578E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) CLCNKB Clcnka ENSG00000184908 chloride voltage-gated channel Kb chr1:16370272-16383803 The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Type 2 Diabetes| edema | rosiglitazone; Hypertension; hypertension; blood pressure, arterial hypertension; quantitative traits; heart rate hypertension renin activity Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007588;excretion;TAS|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA GO:0003824;catalytic activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCNKB https://hpo.jax.org/app/browse/search?q=CLCNKB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602023 http://www.informatics.jax.org/searchtool/Search.do?query=CLCNKB&submit=Quick%0D%15293ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCNKB rs2275166 0.701677 0.7008 0.6586 0.15 2 13 exonic exonic exonic CLCNKB CLCNKB ENSG00000184908 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CLCNKB:NM_000085:exon16:c.A1732G:p.K578E,CLCNKB:NM_001165945:exon9:c.A1225G:p.K409E, CLCNKB:uc001axy.5:exon9:c.A1225G:p.K409E,CLCNKB:uc021ogl.1:exon5:c.A673G:p.K225E,CLCNKB:uc001axx.5:exon16:c.A1732G:p.K578E, ENSG00000184908:ENST00000375667:exon9:c.A1225G:p.K409E,ENSG00000184908:ENST00000375679:exon16:c.A1732G:p.K578E,ENSG00000184908:ENST00000431772:exon2:c.A199G:p.K67E, Het;A>G 4202;79|109 Hom;A>G 6971;1|159 N N - 1 16386495 16386495 C T snp nonsynonymous SNV G320A R107Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral FAM131C Fam131c ENSG00000185519 family with sequence similarity 131 member C chr1:16384264-16400127 Psychomotor Performance; Cognitive performance GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM131C http://www.informatics.jax.org/searchtool/Search.do?query=FAM131C&submit=Quick%0D%15431ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM131C rs71510977 0.396965 0 0.4590 0.46 6 13 exonic exonic exonic FAM131C FAM131C ENSG00000185519 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV FAM131C:NM_182623:exon5:c.G320A:p.R107Q, FAM131C:uc001axz.4:exon5:c.G320A:p.R107Q, ENSG00000185519:ENST00000375662:exon5:c.G320A:p.R107Q, Het;C>T 542;17|25 Hom;C>T 868;0|35 N N - 1 16890598 16890598 T A snp nonsynonymous SNV A3260T Y1087F aromatic,polar,hydrophobic aromatic,hydrophobic,neutral NBPF1 ENSG00000219481 NBPF member 1 chr1:16888814-16940057 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] GO:0055114;oxidation-reduction process;IEA GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NBPF1 https://www.ncbi.nlm.nih.gov/omim/?term=610501 http://www.informatics.jax.org/searchtool/Search.do?query=NBPF1&submit=Quick%0D%18387ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF1 rs2990550 0 0 0.5202 0.00 0 3 exonic exonic exonic NBPF1 NBPF1 ENSG00000219481 unknown nonsynonymous SNV nonsynonymous SNV UNKNOWN NBPF1:uc001ayw.4:exon29:c.A3260T:p.Y1087F, ENSG00000219481:ENST00000430580:exon29:c.A3260T:p.Y1087F, Het;T>A 12832;189|390 Hom;T>A 15363;2|415 N N - 1 16890671 16890671 T C snp nonsynonymous SNV A3187G M1063V hydrophobic,neutral aliphatic,hydrophobic,neutral NBPF1 ENSG00000219481 NBPF member 1 chr1:16888814-16940057 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] GO:0055114;oxidation-reduction process;IEA GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NBPF1 https://www.ncbi.nlm.nih.gov/omim/?term=610501 http://www.informatics.jax.org/searchtool/Search.do?query=NBPF1&submit=Quick%0D%18387ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBPF1 rs2419526 0.546126 0 0.5523 0.00 0 3 exonic exonic exonic NBPF1 NBPF1 ENSG00000219481 unknown nonsynonymous SNV nonsynonymous SNV UNKNOWN NBPF1:uc001ayw.4:exon29:c.A3187G:p.M1063V, ENSG00000219481:ENST00000430580:exon29:c.A3187G:p.M1063V, Het;T>C 10682;76|262 Hom;T>C 9874;2|224 N N - 1 169498975 169498975 T C snp nonsynonymous SNV A5290G M1764V hydrophobic,neutral aliphatic,hydrophobic,neutral F5 F5 ENSG00000198734 coagulation factor V chr1:169483404-169555826 This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis. Post-translational protein phosphorylation GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/F5 https://hpo.jax.org/app/browse/search?q=F5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612309 http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=F5 rs6030 0.308706 0.2894 0.3351 0.15 2 13 exonic exonic exonic F5 F5 ENSG00000198734 nonsynonymous SNV nonsynonymous SNV unknown F5:NM_000130:exon16:c.A5290G:p.M1764V, F5:uc001ggg.1:exon16:c.A5290G:p.M1764V, UNKNOWN Het;T>C 1916;130|95 Hom;T>C 6911;0|248 N N - 1 169511555 169511555 T C snp nonsynonymous SNV A2773G K925E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) F5 F5 ENSG00000198734 coagulation factor V chr1:169483404-169555826 This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis. Post-translational protein phosphorylation GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/F5 https://hpo.jax.org/app/browse/search?q=F5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612309 http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=F5 rs6032 0.26278 0.2435 0.2737 0.15 2 13 exonic exonic exonic F5 F5 ENSG00000198734 nonsynonymous SNV nonsynonymous SNV unknown F5:NM_000130:exon13:c.A2773G:p.K925E, F5:uc001ggg.1:exon13:c.A2773G:p.K925E, UNKNOWN Het;T>C 1696;69|77 Hom;T>C 3350;14|118 N N - 1 169511734 169511734 T C snp nonsynonymous SNV A2594G H865R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) F5 F5 ENSG00000198734 coagulation factor V chr1:169483404-169555826 This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis. Post-translational protein phosphorylation GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/F5 https://hpo.jax.org/app/browse/search?q=F5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612309 http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=F5 rs4525 0.26278 0.2437 0.2738 0.08 1 13 exonic exonic exonic F5 F5 ENSG00000198734 nonsynonymous SNV nonsynonymous SNV unknown F5:NM_000130:exon13:c.A2594G:p.H865R, F5:uc001ggg.1:exon13:c.A2594G:p.H865R, UNKNOWN Het;T>C 1012;76|50 Hom;T>C 3573;2|136 N N - 1 169511755 169511755 T C snp nonsynonymous SNV A2573G K858R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) F5 F5 ENSG00000198734 coagulation factor V chr1:169483404-169555826 This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] longevity; lymphoproliferative disorders; Birth Weight|Pre-Eclampsia|Thrombophilia; Thrombosis|Venous Thromboembolism; heart disease; Blood Coagulation Disorders|Eclampsia|HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Thrombophilia; Apoplexy|Brain Ischemia|Stroke; Atherosclerosis|Thrombophilia; Apoplexy|Stroke|Thrombosis; thrombosis, deep vein; pulmonary thromboembolism; Phlebitis|Pulmonary Embolism|Varicose Veins|Venous Thrombosis; Recurrence|Thrombophilia; Colitis, Ischemic|; Venous Thrombosis; Antithrombin III Deficiency|Gastrointestinal Hemorrhage|Protein C Deficiency|Protein S Deficiency|Splenomegaly|Thrombophilia|Turner Syndrome|Venous Thrombosis|XO syndrome; Arteriosclerosis|Peripheral Vascular Diseases; Tobacco Use Disorder; Abortion, Habitual|Activated Protein C Resistance|Infertility, Female|Thrombophilia; Communicable Diseases|Disease Susceptibility|Sepsis|Systemic infection; Activated Protein C Resistance|Pregnancy Complications, Hematologic|Puerperal Disorders|Pulmonary Embolism|Thrombophilia|Thrombophlebitis|Venous Thrombosis; Neoplasms|Thrombophilia|Thrombosis; Anoxia|Blood Coagulation Disorders, Inherited|Heart Defects, Congenital|Infection|Polycythemia|Postoperative Complications|Thrombosis; Brain Ischemia|Stroke|Vascular Diseases; Anemia, Sickle Cell|Sickle cell anemia; Albuminuria|Inflammation|Kidney Diseases; Thrombosis|Varicose Ulcer; Arterial Occlusive Diseases|Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Colitis|Colonic Neoplasms|Precancerous Conditions; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Hemorrhage|Thrombosis|von Willebrand Disease; Apoplexy|Atrial Septal Defects|Brain Ischemia|Diabetes mellitus|Heart Septal Defects, Atrial|Hypertension|Intracranial Thrombosis|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; factor V levels; Hypertension; Thromboembolism|Venous Thrombosis; Diabetes Complications|Hypercholesterolemia|Hypertension|Myocardial Infarction|Obesity; Blood Coagulation Disorders|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Protein S Deficiency|Thrombophilia|Venous Thrombosis; intimal medial thickness; cerebral infarct; restenosis; factor V coagulation activity thromboembolism, venous; Hemophilia A|Hemophilia B|Thrombophilia; Intracranial Thrombosis|Thrombophilia; Coronary Disease|Pregnancy Complications, Cardiovascular|Premature Birth|Stroke; Abruptio Placentae|Fetal Growth Retardation|Pre-Eclampsia|Thrombophilia; Aneurysm, Ruptured|Intracranial Aneurysm|Stroke|Subarachnoid Hemorrhage; Activated Protein C Resistance; Atrial Fibrillation|Thrombosis; Diabetes mellitus|Hypercholesterolemia|Hypertension|Peripheral Vascular Diseases; Activated Protein C Resistance|Factor V Deficiency|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; birth weight; preterm delivery; thrombosis; Restenosis; Brain Ischemia|Stroke|Thrombophilia; Recurrence|Thromboembolism; retinal artery occlusion; Coronary Restenosis|Coronary Stenosis|Diabetes Complications; myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer; blood pressure, arterial; hearing loss/deafness; Lupus Erythematosus, Systemic|Thrombosis; Vascular Diseases; Activated Protein C Resistance|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Abortion, Spontaneous|Abruptio Placentae|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Hyperhomocysteinemia|Myeloproliferative Disorders|Thrombosis; Carotid artery stenosis|Carotid Stenosis|Disease Progression; Pre-Eclampsia|Thrombophilia; Hemorrhage|Placenta Diseases|Premature Birth|Thrombophilia; Brain Ischemia|Stroke; beta-thalassemia major; Hearing Loss, Sudden|Thrombosis; Peripheral Vascular Diseases|Venous Thrombosis; Type 2 diabetes; Pre-Eclampsia|Pregnancy Complications, Hematologic; thrombophilia and vascular disease; Cerebral Palsy|Hemiplegia; Activated Protein C Resistance|Coronary Disease|Coronary heart disease|Thrombophilia|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Fetal Death|Pregnancy Complications, Cardiovascular|Thromboembolism; Bone necrosis|Femur Head Necrosis|Osteonecrosis; Birth Weight|Hemorrhage|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Neoplasms|Protein C Deficiency|Protein S Deficiency|Venous Thromboembolism; preeclampsia; hypertension, gestational; reduced intrapartum blood loss--a possible evolutionary selection mechanism; Coronary Artery Disease; Blood Coagulation Disorders, Inherited|Thrombophilia; Central Nervous System Vascular Malformations|Intracranial Arteriovenous Malformations|Thrombosis; Pregnancy Complications, Hematologic|Thrombosis; Neoplasms|Recurrence|Thromboembolism|Thrombophilia|Upper Extremity Deep Vein Thrombosis; Postoperative Complications|Postoperative Hemorrhage; pregnancy loss, recurrent; Thrombophilia|Varicose Ulcer|Varicose Veins; Brain Ischemia|Intracranial Arterial Diseases|Stroke; Blood Coagulation Disorders, Inherited; AHG deficiency disease|Hemophilia A; Thromboembolism|Venous Thrombosis|Vitamin B Deficiency; atherosclerosis|myocardial infarction; pregnancy complications; cancer; thromboembolism, venous; Atherosclerosis|Brain Ischemia|Carotid Stenosis|Thrombosis; Sepsis|Systemic infection; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Thromboembolism; Antiphospholipid Syndrome|Thrombosis; Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Pregnancy Complications, Hematologic|Recurrence|Thrombosis; Blood Coagulation Disorders, Inherited|Myocardial Infarction; Atrial Fibrillation|Thromboembolism|Thrombophilia; cardiac death; cardiac morbidity; thromboembolism, venous; protein C; cardiovascular risk; recurrent pregnancy loss; Cardiovascular Diseases; Neoplasms|Venous Thrombosis; Hyperhomocysteinemia|Recurrence|Thrombophilia|Venous Thrombosis; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Retinal Vein Occlusion; Neoplasms; Hearing Loss, Sensorineural|Hearing Loss, Sudden|Sensorineural Hearing Loss; placental vascular complications; recurrent abortions; diabetes, type 2; pregnancy-related first time venous thrombosis ; Peripheral Vascular Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; Factor V Deficiency; Coronary Disease|Coronary heart disease|Thrombophilia; Haemolytic-uraemic syndrome|Hematologic Diseases|Hemolytic-Uremic Syndrome|Purpura, Thrombocytopenic|Thrombocytopenic purpura; Blood Coagulation Disorders|Puerperal Disorders|Sinus Thrombosis, Intracranial; high frequency of factor V Leiden mutation.; Activated Protein C Resistance|Respiratory Distress Syndrome, Adult; epithelial ovarian cancer ; Birth Weight|Cardiovascular Diseases|Metabolic Syndrome X|Thrombosis; Apoplexy|Atrial Fibrillation|Embolism|Stroke; Abruptio Placentae|PLACENTA ABRUPTIO|Thrombophilia; Bone necrosis|Osteonecrosis|Severe Acute Respiratory Syndrome; Blood Coagulation Disorders|Blood Coagulation Disorders, Inherited|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Coronary Disease|Coronary heart disease|Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Brain Ischemia|Intracranial Thrombosis|Ischemic Attack, Transient|Migraine Disorders|Stroke; Blood Coagulation Disorders, Inherited|Protein C Deficiency|Protein S Deficiency|Thrombophilia|Venous Thrombosis; Pulmonary Embolism|Recurrence; Protein C Deficiency|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia; myocardial infarct; atherosclerosis, coronary; Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic; Osteoporosis; Ischemia|Peripheral Vascular Diseases; Abruptio Placentae|Fetal Death|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Placenta Diseases|Thrombophilia; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Thrombophilia; Brain Ischemia; Abruptio Placentae|Fetal Growth Retardation|Intrauterine growth retardation|PLACENTA ABRUPTIO|Pre-Eclampsia|Pregnancy Complications; cerebrovascular disease; sickle cell anemia; antiphospholipid syndrome; Recurrence|Venous Thromboembolism; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden; Myocardial Infarction|Stroke|Venous Thrombosis; Apoplexy|Brain Ischemia|Sinus Thrombosis, Intracranial|Stroke; Diabetes mellitus|Hyperlipidemias|Hypertension|Retinal Vein Occlusion|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Recurrence|Venous Thrombosis; Leg Injuries|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism|Venous Thrombosis; Cardiovascular Diseases|Thrombosis; Colonic Polyps|Gastrointestinal Diseases|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thrombophilia|Venous Thrombosis; thrombosis and resistance to activated protein C; acute coronary events; thromboembolism, venous, pregnancy-related; myocardial infarction; Crohn's disease ulcerative colitis; Obesity|Postthrombotic Syndrome|Varicose Veins|Venous Thrombosis; beta-thalassemia; aspirin resistance; Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Pregnancy Complications, Hematologic|Thrombophilia|Venous Thromboembolism; Myocardial Infarction|Thrombophilia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Pregnancy Complications|Venous Thrombosis; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms; colorectal cancer; Arteriosclerosis|Autoimmune Diseases|Coronary Disease|Coronary heart disease|Hypertension|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Abortion, Spontaneous|Pregnancy Complications, Hematologic|Thrombophilia; brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Myocardial Ischemia; Coronary Artery Disease|Hyperhomocysteinemia; Bone necrosis|Osteonecrosis; chronic hepatitis C virus infection.; fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein; Brain Ischemia|Diabetes Mellitus|Hyperlipidemias|Myocardial Infarction|Stroke|Thrombosis; Thrombophilia|Thrombosis|Venous Thrombosis; Pulmonary Embolism|Thrombophilia; Fetal Growth Retardation|Pre-Eclampsia; Alcoholism|Osteonecrosis|Thrombophilia|Thrombosis; Abruptio Placentae|PLACENTA ABRUPTIO; Birth Weight|Post-partum bleeding|Postpartum Hemorrhage|Pregnancy Complications, Hematologic; Thromboembolism|Thrombophilia|Venous Thrombosis; Cardiovascular Diseases|Hearing Loss, Sensorineural|Hearing Loss, Sudden|Thrombosis; Perioperative genomic profiles ; Antiphospholipid Syndrome|Thrombophilia|Thrombosis; Abortion, Habitual|Recurrence; ovarian hyperstimulation syndrome; Fetal Growth Retardation|Thrombophilia; Nervous System Diseases|Thromboembolism; Retinal Vein Occlusion|Thrombophilia; Retinal Vein Occlusion; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Puerperal Disorders|Sepsis|Streptococcal Infections|Systemic infection; Heart Diseases|Hemorrhage; AHG deficiency disease|Hemophilia A|Hemorrhage|Thrombophilia; intrauterine growth; thromboembolism, venous; homocysteine; thromboembolism, arterial; inflammatory bowel disease; Pancreatitis; Embryo Loss|Fetal Death; Thrombophilia; Infertility, Female; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis|Wegener Granulomatosis; Apoplexy|Atrial Septal Defects|Heart Septal Defects, Atrial|Stroke|Thromboembolism; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia; Retinal Vein Occlusion|Thrombophilia|Thrombosis; Ischemia|Thrombosis; Vascular Disease; Cardiovascular Diseases|; Cerebral Palsy|; Arterial Occlusive Diseases|Brain Infarction|Brain Ischemia|Coronary Artery Disease|Stroke|Thrombosis; splanchnic vein thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Venous Thrombosis; Venous Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Cardiovascular Diseases|Polycythemia Vera|Recurrence|Thrombocythemia, Hemorrhagic|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Homocystinuria|Hyperhomocysteinemia|Muscle Spasticity|Sepsis|Septic Shock|Shock, Septic|Systemic infection|Thrombophilia; Protein Deficiency|Recurrence|Venous Thrombosis; Behcet Syndrome|Hyperhomocysteinemia|Thrombophilia|Thrombosis; cerebral venous thrombosis; thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V; myocardial infarct; Coagulation Protein Disorders|Thrombophilia|Venous Thrombosis; Apoplexy|Ischemic Attack, Transient|Stroke|Transient Ischemic Attack; Activated Protein C Resistance|Thrombophilia|Venous Thrombosis; Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Venous Thromboembolism; Atherosclerosis|Hyperlipidemias|Hypertension|Optic Neuropathy, Ischemic|Thrombophilia; Thrombophilia|Venous Thromboembolism; pharmacogenetic studies; Colitis, Ulcerative|Hyperhomocysteinemia|Thrombophilia; Placenta Diseases|Pre-Eclampsia|Thrombophilia; Coronary Disease|Hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction|Syndrome; Peripheral Vascular Diseases|Systemic Scleroderma; Neoplasms|Postoperative Complications|Thromboembolism; Activated Protein C Resistance|Acute Disease|Disseminated intravascular coagulation|Poisoning; hypertension, pregnancy induced; Carcinoma, Hepatocellular|Liver Cirrhosis|Thrombosis; migraine ; Protein S Deficiency|Thrombophilia; Myeloproliferative Disorders|Thrombophilia; Protein C Deficiency|Protein S Deficiency|Venous Thrombosis; Neoplasms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Retinal Neovascularization|Retinal Vein Occlusion; Infant, Premature, Diseases|Intracranial Hemorrhages; Anemia, Sickle Cell|beta-Thalassemia|Sickle Cell Trait|Thrombophilia; varicose ulcers; Hypertension|Stroke; patent foramen ovale; fetal loss | thrombophilia; Hemorrhagic Disorders; Activated Protein C Resistance|Thrombosis; Coronary Disease|Coronary heart disease|Hyperhomocysteinemia|Pulmonary Embolism|Pulmonary Embolisms|Syndrome|Thrombophilia; Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Peripheral Vascular Diseases|Recurrence|Thrombophilia; Familial Mediterranean Fever; atherosclerosis, generalized; Factor V Deficiency|Hypoprothrombinemias|Protein C Deficiency|Protein S Deficiency|Pulmonary Embolism|Thrombophilia|Venous Thrombosis; thrombotic risk factors; Migraine Disorders; Apoplexy|Atrial Fibrillation|Brain Ischemia|Stroke; Fetal Growth Retardation|Intrauterine growth retardation; Hearing Loss, Sensorineural|Hypercholesterolemia|Hyperhomocysteinemia|Sensorineural Hearing Loss|Thrombophilia; Activated Protein C Resistance|Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Hyperhomocysteinemia|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; fetal loss, late; pregnancy loss, recurrent; thrombosis, arterial thrombosis, venous; Myocardial Infarction; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Venous Thromboembolism|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia; Fetal Diseases|Fetal Growth Retardation|Hypertension induced by pregnancy|Hypertension, Pregnancy-Induced|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; thrombosis, deep vein; Behcet Syndrome|Venous Thrombosis; Thromboembolism|Thrombosis; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Puerperal Disorders|Sinus Thrombosis, Intracranial; Heart Diseases|Myocardial Infarction|Thrombosis; thrombocytopenia; natural menopause.; Death, Sudden|Pulmonary Embolism|Venous Thrombosis; preterm labor; Thrombophilia|Thrombosis|Varicose Veins; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia; Thromboangiitis Obliterans|Thrombophilia; Hemorrhage|Thrombophilia; deficiency of coagulation factor V; menopause; Budd-Chiari Syndrome|Myeloproliferative Disorders|Venous Thrombosis; Antiphospholipid Syndrome|Arterial Occlusive Diseases|Blood Coagulation Disorders, Inherited|Cardiomyopathy, Dilated|Heart Defects, Congenital|Heart Diseases|Thrombophilia|Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Fetal Growth Retardation|Hypertension|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Thrombophilia; Blood Loss, Surgical; Fetal Growth Retardation|HELLP Syndrome|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombosis; Thalassemia; Apoplexy|Atrial Septal Defects|Embolism, Paradoxical|Heart Septal Defects, Atrial|Migraine with Aura|Stroke|Thrombophilia; Cadaver|Infarction|Postoperative Complications|Thrombosis|Vascular Diseases; Stroke; brain hemorrhage; Brain Ischemia|Intracranial Hemorrhages|Stroke; Gaucher Disease|Hypertension, Pulmonary|Necrosis|Thrombophilia; Apoplexy|Myocardial ischemia|Stroke; hypertension; Coronary Disease|Coronary heart disease|Myocardial Infarction; Activated Protein C Resistance|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; stroke; thrombosis, cerebral venous; Brain Ischemia|Foramen Ovale, Patent|Stroke|Thrombosis; Postoperative Complications|Thrombosis; Endotoxemia; HELLP Syndrome|Thrombophilia; Activated Protein C Resistance|Thromboembolism|Venous Thrombosis; Brain Ischemia|Hemorrhage; Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Adenocarcinoma|Gastrointestinal Neoplasms|Neoplasm Metastasis|Thromboembolism; heart disease, ischemic; preeclampsia; Recurrence|Thrombophilia|Venous Thrombosis; Hypertension|Thrombosis; Meningeal Neoplasms|meningioma; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thromboembolism|Venous Thrombosis; Activated Protein C Resistance|Thrombophilia|Thrombosis|Venous Thromboembolism; Premature Birth|Thrombophilia; acute myocardial infarction; Blood Coagulation Disorders, Inherited|Pulmonary Embolism|Venous Thrombosis; Activated Protein C Resistance|Arterial Occlusive Diseases|Graft Occlusion, Vascular; Eclampsia|Factor V Deficiency|Pre-Eclampsia; Activated Protein C Resistance|Myocardial Infarction; Vertebral Artery Dissection; Stomach Neoplasms|Thrombophilia; stroke, ischemic; cerebrovascular disease; thrombosis, arterial; recurrence and early onset of venous thrombosis; Activated Protein C Resistance|Retinal Vein Occlusion|Thromboembolism; Venous Thromboembolism; patent ductus arteriosus; Death, Sudden, Cardiac|Myocardial ischemia|Sudden Cardiac Death; Apoplexy|Pulmonary Embolism|Pulmonary Embolisms|Stroke|Thrombosis|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance|Thrombosis; Activated Protein C Resistance|Thromboembolism|Thrombophilia|Venous Thrombosis; Anemia, Sickle Cell|Peripheral Vascular Diseases|Sickle cell anemia; Blood Coagulation Disorders|Cardiovascular Diseases|Optic Neuropathy, Ischemic; Atherosclerosis|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Retinal Artery Occlusion|Retinal Vein Occlusion|Thrombophilia|Thrombosis; stroke, ischemic; Cerebral Palsy; Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis; Abortion, Habitual|Abortion, Spontaneous|Obstetric Labor Complications|Thrombophilia; Hyperhomocysteinemia|Intracranial Thrombosis|Thrombophilia|Venous Thrombosis; Crohn Disease|Crohn's disease|Thromboembolism; activated protein C resistance; cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein; Abortion, Habitual|Pregnancy Complications|Thrombophilia; Chronic renal failure|Kidney Failure, Chronic; Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Behcet Syndrome|Thrombosis; Mesenteric Vascular Occlusion|Thrombophilia|Venous Thrombosis; Embryo Loss|Habitual aborter NOS|Thrombophilia; fetal loss, late; post myocardial infarction complications; thrombotic diseases; atrial fibrillation stroke, ischemic; unexplained foetal loss ; Thrombophilia|Thrombosis; Cerebral Infarction|Stroke; atherosclerosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Type 2 Diabetes| edema | rosiglitazone; thrombophilia; null; coronary heart disease; breast cancer ; acute traumatic spinal cord injury; Activated Protein C Resistance|Antithrombin III Deficiency|Pregnancy Complications, Hematologic|Protein C Deficiency|Protein S Deficiency|Puerperal Disorders|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Eclampsia|Pre-Eclampsia|Protein C Deficiency|Protein S Deficiency|Thrombophilia; Activated Protein C Resistance|Hyperhomocysteinemia|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Activated Protein C Resistance; Abortion, Spontaneous|Abruptio Placentae|Blood Coagulation Disorders, Inherited|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia; Abruptio Placentae|PLACENTA ABRUPTIO|Pregnancy Complications|Thrombophilia; Recurrent deep-vein thrombosis; thrombosis, cerebral; Blood Coagulation Disorders|Legg-Perthes Disease|Thrombophilia; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Venous Thrombosis; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications, Hematologic|Thrombophilia; Behcet Syndrome|Thrombophilia|Thrombosis; pregnancy loss; von Willebrand Disease; Premature Birth; obesity; Pregnancy Complications; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Blood Coagulation Disorders, Inherited|Sickle cell anemia|Vascular Diseases; Dyspnea|Pulmonary Embolism|Pulmonary Embolisms|Venous Thrombosis; Thrombosis; aneurysmal subarachnoid hemorrhage; venous thromboembolism; normal variation; Neoplasms|Venous Thromboembolism; Critical Illness|Sepsis|Systemic infection; Activated Protein C Resistance|Infection|Neoplasms|Thrombophilia|Thrombosis; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer; Atherosclerosis|Coronary Artery Disease|; recurrent fetal loss; Sneddon Syndrome; sepsis; Autoimmune Diseases|Venous Thrombosis; Acute Coronary Syndrome|; Glucosephosphate Dehydrogenase Deficiency; Recurrence|Thrombophilia|Venous Thromboembolism; Cerebral Infarction; Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis; Apoplexy|Brain Ischemia|Intracranial Embolism and Thrombosis|Sinus Thrombosis, Intracranial|Stroke; Abortion, Habitual|Thrombophilia; Hearing Loss, Sensorineural|Sensorineural Hearing Loss|Thrombophilia; hereditary thrombophilia.; peripheral vascular disease; Activated Protein C Resistance|Blood Coagulation Disorders, Inherited|Femur Head Necrosis|Thrombophilia; ischemic stroke; Thromboembolism|Thrombophilia; Hepatitis C, Chronic|Thrombosis; Apoplexy|Brain Ischemia|Stroke|Thrombophilia; Postoperative Complications|Recurrence|Thromboembolism; hemochromatosis; Neoplasms|Thrombosis; Hyperhomocysteinemia|Stroke; Abortion, Spontaneous|Activated Protein C Resistance|Fetal Growth Retardation|Intrauterine growth retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic; Activated Protein C Resistance|Postphlebitic Syndrome|Varicose Ulcer; Brain Diseases; Pregnancy Complications, Hematologic|Venous Thromboembolism; Anticoagulants; obesity; retinal vascular occlusion; Factor V Deficiency|Thrombophilia; AHG deficiency disease|Chromosome Inversion|Hemophilia A|Hemorrhage|Inversion, Chromosome; delayed graft function acute rejection episodes and long-term graft dysfunction; polycystic ovary syndrome; pregnancy loss, recurrent; Choroidal Neovascularization|Macular Degeneration; Inflammation|Premature Birth; Apoplexy|Brain Ischemia|Diabetes Complications|Hypertension|Stroke; Henoch-Schoenlein Purpura|Purpura, Schoenlein-Henoch|Thrombophilia; Abortion, Habitual; Cardiovascular Diseases|Venous Thrombosis; Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombosis; Abortion, Spontaneous; Gastroschisis|Thromboembolism; stroke, ischemic; stroke, hemorrhagic; pregnancy loss, recurrent; fetal loss; Coronary Artery Disease|; Atherosclerosis|Thrombosis; Embryo Loss|Genetic Diseases, Inborn|Pregnancy Complications, Hematologic|Thrombophilia; Pregnancy Complications, Hematologic|Recurrence|Thromboembolism|Thrombophilia|Venous Thrombosis; Pregnancy Complications, Hematologic|Premature Birth|Thrombophilia; Blood Platelet Disorders|Thrombophilia; Activated Protein C Resistance|Multiple Myeloma|Thrombophilia|Venous Thrombosis; Activated Protein C Resistance|Hyperhomocysteinemia|Intracranial Thrombosis|Venous Thrombosis; Femur Head Necrosis|Thromboembolism; retinal vascular occlusion; factor V Leiden; Epistaxis|Thrombasthenia; Constriction, Pathologic|Ischemia|Peripheral Arterial Disease|Peripheral Arterial Diseases|Thrombophilia; Apnea|Apoplexy|Blood Coagulation Disorders|Brain Ischemia|Cerebrovascular Disorders|Hypotony, Muscle|Muscle Hypotonia|Protein C Deficiency|Seizures|Stroke|Thrombosis; Retinopathy of Prematurity|Vitreoretinopathy, Proliferative; cerebrovascular disease, ischemic; myocardial infarct; heart disease, ischemic; Pregnancy-associated venous thromboembolism; Brain Ischemia|Recurrence|Stroke; Abruptio Placentae|Thrombophilia; Hemorrhage|Recurrence|Thromboembolism|Thrombophilia; acute lymphocytic leukemia|Hematologic Neoplasms|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Thrombophilia; Fetal Death; Birth Weight|Cerebral Palsy|Intracranial Thrombosis|Obstetric Labor Complications|Prenatal Exposure Delayed Effects; Blood Coagulation Disorders; Anemia, Sickle Cell|beta Thalassemia|beta-Thalassemia|Sickle cell anemia|Thrombophilia; Perthes' disease; Budd-Chiari syndrome liver transplant portal vein thrombosis; Hypertension, Pregnancy-Induced|Pre-Eclampsia|Thrombophilia; Endotoxemia|Inflammation|Sepsis|Systemic infection; thromboembolic disease; Gaucher Disease|Legg-Perthes Disease|Thrombophilia; Activated Protein C Resistance|Venous Thrombosis; Infection|Inflammation|Premature Birth; Budd-Chiari Syndrome; Budd-Chiari Syndrome|Pregnancy Complications, Hematologic|Thrombophilia; Activated Protein C Resistance|Hemochromatosis|Iron Overload|Thrombophilia; Activated Protein C Resistance|Blood Coagulation Disorders|Liver Diseases|Protein C Deficiency|Protein S Deficiency|Thrombosis; atherosclerosis, coronary; Pre-Eclampsia; Hemolytic-Uremic Syndrome; Epilepsy|Thrombophilia; Thromboembolism|Thrombosis|Venous Thrombosis; Activated Protein C Resistance|Postoperative Complications|Pulmonary Embolism|Pulmonary Embolisms|Thrombophilia|Venous Thrombosis; Abortion, Habitual|Abruptio Placentae|Activated Protein C Resistance|PLACENTA ABRUPTIO|Thrombophilia; Activated Protein C Resistance|Central Nervous System Vascular Malformations; Atrial Fibrillation|Heart Diseases|Thrombosis; Hyperhomocysteinemia|Venous Thrombosis; Sinus Thrombosis, Intracranial|Thrombophilia; Behcet Syndrome|Retinal Artery Occlusion|Retinal Vein Occlusion; Complication, Cardiovascular Pregnancy|Pregnancy Complications, Cardiovascular|Venous Thrombosis; Activated Protein C Resistance|HELLP Syndrome; Intracranial Thrombosis|Venous Thrombosis; Apoplexy|Brain Ischemia|Ischemic Attack, Transient|Stroke|Thrombosis|Transient Ischemic Attack; Pregnancy Complications, Cardiovascular|Venous Thrombosis; Apoplexy|Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Thromboembolism; Kidney Diseases|Pulmonary Embolism|Pulmonary Embolisms|Thrombosis|Venous Thrombosis; Abortion, Spontaneous|Venous Thrombosis; Esophageal and Gastric Varices|Gastrointestinal Hemorrhage|Liver Cirrhosis|Postoperative Complications|Venous Thrombosis; thromboembolism, venous; intrauterine growth retardation; coronary artery disease; pulmonary thromboembolism thromboembolism, venous; hearing loss, sensorineural nonsyndromic; Behcet's Disease; Amyotrophic Lateral Sclerosis|; HELLP Syndrome|Pre-Eclampsia; Liver Cirrhosis|Thrombophilia|Venous Thrombosis; beta-Thalassemia|Thrombophilia; thrombosis, venous; hypertension, gestational; Thrombosis|Venous Thrombosis; Thromboembolism; Escherichia coli Infections|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Cardiovascular Diseases|Myocardial Infarction|Recurrence Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis. Post-translational protein phosphorylation GO:0002576;platelet degranulation;TAS|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008015;blood circulation;IEA|GO:0030168;platelet activation;IEA|GO:0032571;response to vitamin K;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048208;COPII vesicle coating;TAS GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030134;ER to Golgi transport vesicle;TAS|GO:0031091;platelet alpha granule;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:1903561;extracellular vesicle;IDA GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/F5 https://hpo.jax.org/app/browse/search?q=F5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612309 http://www.informatics.jax.org/searchtool/Search.do?query=F5&submit=Quick%0D%16982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=F5 rs4524 0.266773 0.2436 0.2768 0.08 1 13 exonic exonic exonic F5 F5 ENSG00000198734 nonsynonymous SNV nonsynonymous SNV unknown F5:NM_000130:exon13:c.A2573G:p.K858R, F5:uc001ggg.1:exon13:c.A2573G:p.K858R, UNKNOWN Het;T>C 1181;67|58 Hom;T>C 3710;2|136 N N - 1 171076966 171076966 G A snp nonsynonymous SNV G472A E158K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) FMO3 Fmo3 ENSG00000007933 flavin containing monooxygenase 3 chr1:171060018-171086959 Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016] Hypertension; hypertension; Chronic renal failure|Kidney Failure, Chronic; childhood brain tumors | residential insecticide exposure; colon polyps; null; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Glomerular Filtration Rate; colorectal cancer; trimethyaminuria; leukemia, myeloid; patent ductus arteriosus; Sudden Infant Death; schizophrenia; Hearing Loss FMO oxidises nucleophiles GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IBA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;TAS GO:0004497;monooxygenase activity;IBA|GO:0004499;N,N-dimethylaniline monooxygenase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0034899;trimethylamine monooxygenase activity;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0050661;NADP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FMO3 https://www.uniprot.org/uniprot/P31513 https://hpo.jax.org/app/browse/search?q=FMO3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=136132 http://www.informatics.jax.org/searchtool/Search.do?query=FMO3&submit=Quick%0D%456ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FMO3 rs2266782 0.347843 0.4290 0.3830 0.31 4 13 exonic exonic exonic FMO3 FMO3 ENSG00000007933 nonsynonymous SNV nonsynonymous SNV unknown FMO3:NM_001002294:exon4:c.G472A:p.E158K,FMO3:NM_006894:exon4:c.G472A:p.E158K, FMO3:uc001ghh.3:exon4:c.G472A:p.E158K,FMO3:uc010pmb.2:exon5:c.G412A:p.E138K,FMO3:uc010pmc.2:exon3:c.G283A:p.E95K,FMO3:uc001ghi.3:exon4:c.G472A:p.E158K, UNKNOWN Het;G>A 665;33|30 Hom;G>A 1786;3|68 N N - 1 17312743 17312743 C T snp nonsynonymous SNV G3214A A1072T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ATP13A2 Atp13a2 ENSG00000159363 ATPase 13A2 chr1:17312453-17338423 This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008] height; Body Height; Parkinson's disease ; Parkinson's disease; Parkinson Disease Mice homozygous for a knock-out allele exhibit neuronal ceroid lipofuscinosis, synuclein accumulation and age-dependent sensorimotor deficits. Ion transport by P-type ATPases GO:0006812;cation transport;IEA|GO:0006874;cellular calcium ion homeostasis;IDA|GO:0006879;cellular iron ion homeostasis;IMP|GO:0006882;cellular zinc ion homeostasis;IMP|GO:0010821;regulation of mitochondrion organization;IDA|GO:0016241;regulation of macroautophagy;IMP|GO:0016243;regulation of autophagosome size;IDA|GO:0030003;cellular cation homeostasis;TAS|GO:0033157;regulation of intracellular protein transport;NAS|GO:0034220;ion transmembrane transport;TAS|GO:0034599;cellular response to oxidative stress;IMP|GO:0046777;protein autophosphorylation;TAS|GO:0050714;positive regulation of protein secretion;IMP|GO:0052548;regulation of endopeptidase activity;IMP|GO:0055069;zinc ion homeostasis;IMP|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071287;cellular response to manganese ion;IMP|GO:0071294;cellular response to zinc ion;TAS|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1901215;negative regulation of neuron death;ISS|GO:1903146;regulation of mitophagy;TAS|GO:1903543;positive regulation of exosomal secretion;IDA|GO:1904714;regulation of chaperone-mediated autophagy;TAS|GO:1905037;autophagosome organization;IDA|GO:1905122;polyamine import;IDA|GO:1905123;regulation of glucosylceramidase activity;IEA|GO:1905165;regulation of lysosomal protein catabolic process;IGI|GO:1905166;negative regulation of lysosomal protein catabolic process;TAS|GO:1990938;peptidyl-aspartic acid autophosphorylation;IMP GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IDA|GO:0005770;late endosome;IDA|GO:0005771;multivesicular body;IDA|GO:0005776;autophagosome;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;NAS|GO:0030133;transport vesicle;IDA|GO:0031982;vesicle;IDA|GO:0032585;multivesicular body membrane;NAS|GO:0043005;neuron projection;IDA|GO:0043025;neuronal cell body;IDA|GO:0043202;lysosomal lumen;TAS|GO:1905103;integral component of lysosomal membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;ISS|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;NAS|GO:0019829;cation-transporting ATPase activity;TAS|GO:0030145;manganese ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0070300;phosphatidic acid binding;IDA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA|GO:1903135;cupric ion binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ATP13A2 https://hpo.jax.org/app/browse/search?q=ATP13A2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610513 http://www.informatics.jax.org/searchtool/Search.do?query=ATP13A2&submit=Quick%0D%10328ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP13A2 rs3170740 0.33127 0.4213 0.5065 0.18 2 11 exonic exonic exonic ATP13A2 ATP13A2 ENSG00000159363 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV ATP13A2:NM_001141974:exon27:c.G3214A:p.A1072T, ATP13A2:uc001bac.2:exon27:c.G3214A:p.A1072T, ENSG00000159363:ENST00000502418:exon7:c.G934A:p.A312T,ENSG00000159363:ENST00000341676:exon27:c.G3214A:p.A1072T, Het;C>T 660;24|29 Hom;C>T 1752;0|63 N N - 1 175087885 175087885 A G snp nonsynonymous SNV A2575G M859V hydrophobic,neutral aliphatic,hydrophobic,neutral TNN Tnn ENSG00000120332 tenascin N chr1:175036994-175117202 Alcoholism ECM proteoglycans GO:0002076;osteoblast development;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007409;axonogenesis;IEA|GO:0016049;cell growth;IEA|GO:0016477;cell migration;IEA|GO:0033689;negative regulation of osteoblast proliferation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:1905240;negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation;IEA GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0009986;cell surface;IEA GO:0003674;molecular_function;ND|GO:0005178;integrin binding;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TNN https://www.uniprot.org/uniprot/Q9UQP3 https://www.ncbi.nlm.nih.gov/omim/?term=617472 http://www.informatics.jax.org/searchtool/Search.do?query=TNN&submit=Quick%0D%5199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNN rs6694078 0.172923 0.0990 0.1747 0.08 1 13 exonic exonic exonic TNN TNN ENSG00000120332 nonsynonymous SNV nonsynonymous SNV unknown TNN:NM_022093:exon11:c.A2575G:p.M859V, TNN:uc001gkl.1:exon11:c.A2575G:p.M859V, UNKNOWN Het;A>G 3049;52|77 Hom;A>G 4935;0|111 N N - 1 183085755 183085755 A G snp nonsynonymous SNV A1372G I458V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LAMC1 Lamc1 ENSG00000135862 laminin subunit gamma 1 chr1:182992595-183114727 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011] ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5. Post-translational protein phosphorylation GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;IMP http://www.genecards.org/index.php?path=/Search/keyword/LAMC1 https://www.uniprot.org/uniprot/P11047 https://www.ncbi.nlm.nih.gov/omim/?term=150290 http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1 rs20563 0.531749 0.5035 0.5725 0.08 1 13 exonic exonic exonic LAMC1 LAMC1 ENSG00000135862 nonsynonymous SNV nonsynonymous SNV unknown LAMC1:NM_002293:exon7:c.A1372G:p.I458V, LAMC1:uc001gpy.4:exon7:c.A1372G:p.I458V, UNKNOWN Het;A>G 548;51|28 Hom;A>G 2509;0|86 N N - 1 183094547 183094547 T C snp nonsynonymous SNV T2663C L888P aliphatic,hydrophobic,neutral hydrophobic,neutral LAMC1 Lamc1 ENSG00000135862 laminin subunit gamma 1 chr1:182992595-183114727 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011] ovarian cancer; maculopathy; Triglycerides; kidney aging; Uterine Prolapse Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5. Post-translational protein phosphorylation GO:0006461;protein complex assembly;IDA|GO:0007155;cell adhesion;IDA|GO:0007492;endoderm development;TAS|GO:0016477;cell migration;IMP|GO:0022617;extracellular matrix disassembly;IMP|GO:0030198;extracellular matrix organization;TAS|GO:0031581;hemidesmosome assembly;IMP|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0048731;system development;IEA|GO:0050679;positive regulation of epithelial cell proliferation;TAS|GO:0070831;basement membrane assembly;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;TAS|GO:0005606;laminin-1 complex;TAS|GO:0005615;extracellular space;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;IMP http://www.genecards.org/index.php?path=/Search/keyword/LAMC1 https://www.uniprot.org/uniprot/P11047 https://www.ncbi.nlm.nih.gov/omim/?term=150290 http://www.informatics.jax.org/searchtool/Search.do?query=LAMC1&submit=Quick%0D%7233ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC1 rs20558 0.531749 0.5035 0.5723 0.23 3 13 exonic exonic exonic LAMC1 LAMC1 ENSG00000135862 nonsynonymous SNV nonsynonymous SNV unknown LAMC1:NM_002293:exon15:c.T2663C:p.L888P, LAMC1:uc001gpy.4:exon15:c.T2663C:p.L888P, UNKNOWN Het;T>C 757;69|37 Hom;T>C 2740;0|98 N N - 1 186026474 186026474 T C snp nonsynonymous SNV T7253C I2418T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral HMCN1 Hmcn1 ENSG00000143341 hemicentin 1 chr1:185703683-186160085 This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008] atherosclerosis; Aorta; glomerular filtration rate macular degeneration; maculopathy; Electrocardiography; macular degeneration; Stroke; Diabetic Nephropathies|Diabetic Nephropathy; Atrial Fibrillation GO:0007049;cell cycle;IEA|GO:0007601;visual perception;IEA|GO:0050896;response to stimulus;IEA|GO:0051301;cell division;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;TAS|GO:0032154;cleavage furrow;IEA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;IEA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HMCN1 https://www.uniprot.org/uniprot/Q96RW7 https://www.ncbi.nlm.nih.gov/omim/?term=608548 http://www.informatics.jax.org/searchtool/Search.do?query=HMCN1&submit=Quick%0D%8416ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN1 rs12129650 0.529952 0.5254 0.5389 0.62 8 13 exonic exonic exonic HMCN1 HMCN1 ENSG00000143341 nonsynonymous SNV nonsynonymous SNV unknown HMCN1:NM_031935:exon46:c.T7253C:p.I2418T, HMCN1:uc001grq.1:exon46:c.T7253C:p.I2418T, UNKNOWN Het;T>C 1361;79|66 Hom;T>C 4557;0|162 N N - 1 186050417 186050417 A G snp nonsynonymous SNV A8678G E2893G polar,hydrophilic,charged(-) aliphatic,neutral HMCN1 Hmcn1 ENSG00000143341 hemicentin 1 chr1:185703683-186160085 This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008] atherosclerosis; Aorta; glomerular filtration rate macular degeneration; maculopathy; Electrocardiography; macular degeneration; Stroke; Diabetic Nephropathies|Diabetic Nephropathy; Atrial Fibrillation GO:0007049;cell cycle;IEA|GO:0007601;visual perception;IEA|GO:0050896;response to stimulus;IEA|GO:0051301;cell division;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA|GO:0030054;cell junction;IEA|GO:0031012;extracellular matrix;TAS|GO:0032154;cleavage furrow;IEA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;IEA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HMCN1 https://www.uniprot.org/uniprot/Q96RW7 https://www.ncbi.nlm.nih.gov/omim/?term=608548 http://www.informatics.jax.org/searchtool/Search.do?query=HMCN1&submit=Quick%0D%8416ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMCN1 rs10798035 0.582668 0.5550 0.5453 0.77 10 13 exonic exonic exonic HMCN1 HMCN1 ENSG00000143341 nonsynonymous SNV nonsynonymous SNV unknown HMCN1:NM_031935:exon56:c.A8678G:p.E2893G, HMCN1:uc001grq.1:exon56:c.A8678G:p.E2893G, UNKNOWN Het;A>G 408;51|25 Hom;A>G 2055;0|76 N N - 1 186344267 186344267 T A snp nonsynonymous SNV A122T E41V polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral TPR Tpr ENSG00000047410 translocated promoter region, nuclear basket protein chr1:186280784-186344825 This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008] Differentiated thyroid carcinoma tRNA processing in the nucleus GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0000189;MAPK import into nucleus;IMP|GO:0006404;RNA import into nucleus;IDA|GO:0006405;RNA export from nucleus;IMP|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;TAS|GO:0006810;transport;IEA|GO:0006999;nuclear pore organization;IMP|GO:0007049;cell cycle;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0008150;biological_process;ND|GO:0010827;regulation of glucose transport;TAS|GO:0010965;regulation of mitotic sister chromatid separation;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0031453;positive regulation of heterochromatin assembly;IMP|GO:0031990;mRNA export from nucleus in response to heat stress;IDA|GO:0034605;cellular response to heat;IDA|GO:0035457;cellular response to interferon-alpha;IEA|GO:0042307;positive regulation of protein import into nucleus;IMP|GO:0045947;negative regulation of translational initiation;IMP|GO:0046827;positive regulation of protein export from nucleus;ISS|GO:0046832;negative regulation of RNA export from nucleus;IDA|GO:0051028;mRNA transport;IEA|GO:0051301;cell division;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0070849;response to epidermal growth factor;IDA|GO:0075733;intracellular transport of virus;TAS|GO:0090267;positive regulation of mitotic cell cycle spindle assembly checkpoint;IMP|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:1900034;regulation of cellular response to heat;TAS|GO:1901673;regulation of mitotic spindle assembly;IMP GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0005575;cellular_component;ND|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IEA|GO:0005643;nuclear pore;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031965;nuclear membrane;IEA|GO:0034399;nuclear periphery;IDA|GO:0042405;nuclear inclusion body;IDA|GO:0044615;nuclear pore nuclear basket;IDA|GO:0072686;mitotic spindle;IDA GO:0003674;molecular_function;ND|GO:0003682;chromatin binding;IDA|GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IDA|GO:0005487;nucleocytoplasmic transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0015631;tubulin binding;IDA|GO:0031072;heat shock protein binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0051019;mitogen-activated protein kinase binding;IDA|GO:0070840;dynein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TPR https://www.uniprot.org/uniprot/P12270 https://www.ncbi.nlm.nih.gov/omim/?term=189940 http://www.informatics.jax.org/searchtool/Search.do?query=TPR&submit=Quick%0D%868ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPR rs551633519 0.000199681 0 0.0005 0.25 2 8 ncRNA_intronic exonic exonic MIR548F1 TPR ENSG00000047410 Na nonsynonymous SNV unknown Na TPR:uc010pop.2:exon2:c.A122T:p.E41V, UNKNOWN Het;T>A 80;4|5 Hom;T>A 257;1|12 N N - 1 19181393 19181393 T C snp nonsynonymous SNV A571G I191V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TAS1R2 Tas1r2 ENSG00000179002 taste 1 receptor member 2 chr1:19166093-19186176 Parkinson's disease ; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Obesity|Overweight; Dental Caries; Bulimia Homozygous mutant mice show diminished behavioral and nervous responses to sweet tastants. Response to umami tastants is unimpaired. Class C/3 (Metabotropic glutamate/pheromone receptors) GO:0001582;detection of chemical stimulus involved in sensory perception of sweet taste;IDA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IC|GO:0032467;positive regulation of cytokinesis;IMP|GO:0050896;response to stimulus;IEA|GO:0050909;sensory perception of taste;IEA|GO:0050916;sensory perception of sweet taste;IDA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IC|GO:0043235;receptor complex;IDA|GO:1903767;sweet taste receptor complex;IDA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0008527;taste receptor activity;IDA|GO:0033041;sweet taste receptor activity;IDA|GO:0046982;protein heterodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/TAS1R2 https://www.ncbi.nlm.nih.gov/omim/?term=606226 http://www.informatics.jax.org/searchtool/Search.do?query=TAS1R2&submit=Quick%0D%14271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAS1R2 rs35874116 0.266973 0.3225 0.3006 0.23 3 13 exonic exonic exonic TAS1R2 TAS1R2 ENSG00000179002 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV TAS1R2:NM_152232:exon3:c.A571G:p.I191V, TAS1R2:uc001bba.1:exon3:c.A571G:p.I191V, ENSG00000179002:ENST00000375371:exon3:c.A571G:p.I191V, Het;T>C 1881;109|89 Hom;T>C 4767;0|175 N N - 1 193074651 193074651 T A snp nonsynonymous SNV A118T R40W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral GLRX2 Glrx2 ENSG00000023572 glutaredoxin 2 chr1:193065598-193075244 The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in primary mouse lens epithelial cells, and an increased level of glutathionylated proteins in mitochondria. GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006749;glutathione metabolic process;TAS|GO:0006915;apoptotic process;NAS|GO:0007568;aging;IEA|GO:0009266;response to temperature stimulus;NAS|GO:0009966;regulation of signal transduction;NAS|GO:0010033;response to organic substance;IDA|GO:0030154;cell differentiation;NAS|GO:0042262;DNA protection;NAS|GO:0042542;response to hydrogen peroxide;IDA|GO:0045454;cell redox homeostasis;TAS|GO:0051775;response to redox state;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071451;cellular response to superoxide;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003756;protein disulfide isomerase activity;TAS|GO:0008794;arsenate reductase (glutaredoxin) activity;TAS|GO:0009055;electron carrier activity;NAS|GO:0015035;protein disulfide oxidoreductase activity;IEA|GO:0015038;glutathione disulfide oxidoreductase activity;TAS|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLRX2 https://www.uniprot.org/uniprot/Q9NS18 https://www.ncbi.nlm.nih.gov/omim/?term=606820 http://www.informatics.jax.org/searchtool/Search.do?query=GLRX2&submit=Quick%0D%685ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLRX2 rs10921310 0.680711 0.7369 0.7636 0.08 1 12 exonic exonic exonic GLRX2 GLRX2 ENSG00000023572 nonsynonymous SNV nonsynonymous SNV unknown GLRX2:NM_016066:exon1:c.A118T:p.R40W, GLRX2:uc001gta.2:exon1:c.A118T:p.R40W, UNKNOWN Het;T>A 598;18|26 Hom;T>A 722;0|28 N N - 1 19595137 19595137 C T snp nonsynonymous SNV G229A A77T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral AKR7L ENSG00000211454 aldo-keto reductase family 7 like (gene/pseudogene) chr1:19592476-19600688 This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a duplicated pseudogene, and it is therefore represented as such in this Gene record. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] Aflatoxin activation and detoxification GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AKR7L https://www.ncbi.nlm.nih.gov/omim/?term=608478 http://www.informatics.jax.org/searchtool/Search.do?query=AKR7L&submit=Quick%0D%17768ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKR7L rs2235795 0.665136 0.5883 0.6876 0.11 1 9 ncRNA_exonic exonic exonic AKR7L AKR7L ENSG00000211454 Na nonsynonymous SNV nonsynonymous SNV Na AKR7L:uc021ohn.1:exon6:c.G253A:p.A85T,AKR7L:uc021oho.1:exon4:c.G229A:p.A77T, ENSG00000211454:ENST00000420396:exon4:c.G229A:p.A77T, Het;C>T 1042;60|54 Hom;C>T 2831;0|108 N N - 1 19596124 19596124 C T snp nonsynonymous SNV G47A C16Y polar,hydrophobic,neutral aromatic,polar,hydrophobic AKR7L ENSG00000211454 aldo-keto reductase family 7 like (gene/pseudogene) chr1:19592476-19600688 This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a duplicated pseudogene, and it is therefore represented as such in this Gene record. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] Aflatoxin activation and detoxification GO:0006805;xenobiotic metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AKR7L https://www.ncbi.nlm.nih.gov/omim/?term=608478 http://www.informatics.jax.org/searchtool/Search.do?query=AKR7L&submit=Quick%0D%17768ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKR7L rs2235794 0.664936 0.5940 0.6867 0.78 7 9 ncRNA_exonic exonic exonic AKR7L AKR7L ENSG00000211454 Na nonsynonymous SNV unknown Na AKR7L:uc021ohn.1:exon4:c.G47A:p.C16Y, UNKNOWN Het;C>T 454;16|23 Hom;C>T 1075;0|41 N N - 1 196642233 196642233 G A snp nonsynonymous SNV G184A V62I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CFH Cfh ENSG00000000971 complement factor H chr1:196621008-196716634 This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011] lung cancer; diabetes, type 1; Cardiovascular Diseases|Kidney Failure, Chronic; atypical hemolytic uremic syndrome; Choroidal Neovascularization|Macular Degeneration|Retinal Drusen; Lymphoma, Non-Hodgkin; Alzheimer's disease ; age-related macular degeneration; Dengue Hemorrhagic Fever; Coronary Disease|Hyperlipoproteinemia Type II; Haemolytic uraemic syndrome; patent ductus arteriosus; Glomerulonephritis, IGA; Choroid Diseases|Macular Degeneration|Peripheral Vascular Diseases; Macular Degeneration|Nephritis, Hereditary|Retinal Degeneration|Retinal Drusen; macular degeneration; Myocardial Infarction; blood pressure, arterial hypertension; myocardial infarct; thromboembolism, venous; C-reactive protein; stroke, ischemic; Age-related macular degeneration; myocardial infarct; Diabetic Nephropathies|Diabetic Nephropathy; Arthritis, Rheumatoid|; Coronary Disease; Blind Vision|Blindness|Choroidal Neovascularization|Macular Degeneration; Atherosclerosis|Carotid Artery Diseases; Coronary Disease|Coronary heart disease|Myocardial Infarction; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome|Recurrence; Atherosclerosis|Inflammation|Macular Degeneration; Angiomatosis|Choroidal Neovascularization|Macular Degeneration; hypertension; retinal venular dilatation; bladder cancer; macular degeneration, age-related; Parkinson's disease; Furunculosis|Staphylococcal Infections; Pre-Eclampsia; lung cancer ; Systemic inflam response synd|Systemic Inflammatory Response Syndrome; Macular Degeneration; age-related maculopathy; choroidal neovascularization geographic atrophy macular degeneration; Alzheimer's disease; Chlamydophila Infections|Macular Degeneration; Retinal Diseases; Meningococcal Infections; Choroidal Neovascularization|Macular Degeneration; Diabetes Mellitus, Type 2|Inflammatory Bowel Diseases|Macular Degeneration|Prostatic Neoplasms; choroidal neovascularization; atherosclerosis, coronary myocardial infarct; Cardiovascular Diseases|Inflammation|Macular Degeneration; Geographic Atrophy|Macular Degeneration|Retinal Drusen; Choroiditis|Macular Degeneration; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; Chlamydia Infections|Macular Degeneration; Diseases in Twins|Macular Degeneration|Retinal Drusen; atherosclerosis, coronary; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis; macular degeneration; soft drusen; Ataxia Telangiectasia; glomerulonephritis; Cardiovascular Diseases|Hyperlipoproteinemia Type II; Chronic renal failure|Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome|Kidney Failure, Chronic; Coronary Disease|Coronary heart disease; null; heart disease, ischemic; chronic obstructive pulmonary disease; Coronary Artery Disease; hemolytic uremic syndrome; Choroid Diseases|Macular Degeneration|Peripheral Vascular Diseases|Retinal Neovascularization; Retinopathy of Prematurity; Pseudoxanthoma Elasticum; Choroidal Neovascularization|Geographic Atrophy; Geographic Atrophy|Macular Degeneration; Choroid Diseases|Peripheral Vascular Diseases; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; glomerular filtration rate macular degeneration Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age. Regulation of Complement cascade GO:0002376;immune system process;IEA|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IDA|GO:0043395;heparan sulfate proteoglycan binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CFH https://www.uniprot.org/uniprot/P08603 https://hpo.jax.org/app/browse/search?q=CFH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=134370 http://www.informatics.jax.org/searchtool/Search.do?query=CFH&submit=Quick%0D%275ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CFH rs800292 0.468051 0.3866 0.3210 0.17 2 12 exonic exonic exonic CFH CFH ENSG00000000971 nonsynonymous SNV nonsynonymous SNV unknown CFH:NM_000186:exon2:c.G184A:p.V62I,CFH:NM_001014975:exon2:c.G184A:p.V62I, CFH:uc009wyx.3:exon2:c.G184A:p.V62I,CFH:uc001gtj.4:exon2:c.G184A:p.V62I,CFH:uc009wyw.3:exon2:c.G184A:p.V62I,CFH:uc001gti.4:exon2:c.G184A:p.V62I, UNKNOWN Het;G>A 958;69|49 Hom;G>A 2715;0|103 N N - 1 201777250 201777250 C T snp nonsynonymous SNV C2636T S879L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral NAV1 Nav1 ENSG00000134369 neuron navigator 1 chr1:201592411-201796102 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] Blood Pressure GO:0001578;microtubule bundle formation;IEA|GO:0001764;neuron migration;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0043194;axon initial segment;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV1 https://www.uniprot.org/uniprot/Q8NEY1 https://www.ncbi.nlm.nih.gov/omim/?term=611628 http://www.informatics.jax.org/searchtool/Search.do?query=NAV1&submit=Quick%0D%6969ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV1 rs2820289 0.0856629 0.0547 0.0830 0.77 10 13 exonic exonic exonic NAV1 NAV1 ENSG00000134369 nonsynonymous SNV nonsynonymous SNV unknown NAV1:NM_001167738:exon15:c.C2636T:p.S879L,NAV1:NM_020443:exon18:c.C3818T:p.S1273L, NAV1:uc001gwu.3:exon17:c.C3809T:p.S1270L,NAV1:uc021phi.1:exon18:c.C3818T:p.S1273L,NAV1:uc001gwx.3:exon15:c.C2636T:p.S879L, UNKNOWN Het;C>T 452;75|27 Hom;C>T 2651;0|99 N N - 1 201869257 201869257 G A snp nonsynonymous SNV C884T T295M polar,hydrophilic,neutral hydrophobic,neutral LMOD1 Lmod1 ENSG00000163431 leiomodin 1 chr1:201865580-201915715 The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008] chronic obstructive pulmonary disease; Parkinson Disease; lung cancer; Type 2 Diabetes| edema | rosiglitazone; bladder cancer; lung cancer ; schizophrenia weight gain Smooth Muscle Contraction GO:0006936;muscle contraction;TAS|GO:0030838;positive regulation of actin filament polymerization;IDA|GO:0045010;actin nucleation;IDA|GO:0051694;pointed-end actin filament capping;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IEA|GO:0016020;membrane;TAS|GO:0030016;myofibril;IDA|GO:0030017;sarcomere;IEA GO:0003779;actin binding;IEA|GO:0005523;tropomyosin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LMOD1 https://hpo.jax.org/app/browse/search?q=LMOD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602715 http://www.informatics.jax.org/searchtool/Search.do?query=LMOD1&submit=Quick%0D%10963ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMOD1 rs2820312 0.217851 0.2790 0.2790 0.31 4 13 exonic exonic exonic LMOD1 LMOD1 ENSG00000163431 nonsynonymous SNV nonsynonymous SNV unknown LMOD1:NM_012134:exon2:c.C884T:p.T295M, LMOD1:uc021phm.1:exon2:c.C884T:p.T295M,LMOD1:uc010ppu.2:exon3:c.C731T:p.T244M,LMOD1:uc021phl.1:exon2:c.C884T:p.T295M, UNKNOWN Het;G>A 1535;144|83 Hom;G>A 5246;2|198 N N - 1 202956340 202956340 T G snp nonsynonymous SNV A131C E44A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral LOC401980 rs705754 0.210064 0 0.2993 1 0 0 ncRNA_exonic exonic ncRNA_exonic LOC100506747 LOC401980 ENSG00000234761 Na nonsynonymous SNV Na Na LOC401980:uc021phr.1:exon5:c.A131C:p.E44A, Na Het;T>G 1742;98|83 Hom;T>G 4162;0|145 N N - 1 204159611 204159612 CT C indel frameshift substitution 417_418G KISS1 Kiss1 ENSG00000170498 KiSS-1 metastasis-suppressor chr1:204159469-204165614 This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012] breast cancer ; Tobacco Use Disorder; precocious puberty; Hypertension; Puberty, Precocious; Menarch|Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hypogonadism|Puberty, Precocious; Hypogonadism|Kallmann Syndrome Homozygote null mice are infertile with abnormal sexual maturation associated with hypogonadotropism G alpha (q) signalling events GO:0007010;cytoskeleton organization;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0033686;positive regulation of luteinizing hormone secretion;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0046697;decidualization;IEA|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IEA|GO:0060112;generation of ovulation cycle rhythm;IEA|GO:0060124;positive regulation of growth hormone secretion;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0016324;apical plasma membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA GO:0005515;protein binding;IPI|GO:0031773;kisspeptin receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KISS1 https://hpo.jax.org/app/browse/search?q=KISS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603286 http://www.informatics.jax.org/searchtool/Search.do?query=KISS1&submit=Quick%0D%12722ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KISS1 rs71745629 0.221845 0.1672 0.2983 1 0 0 exonic exonic exonic KISS1 KISS1 ENSG00000170498 frameshift substitution frameshift substitution unknown KISS1:NM_002256:exon3:c.417_418G, KISS1:uc001har.3:exon3:c.417_418G, UNKNOWN Het;-T 209;10|8 Hom;-T 357;0|10 N N - 1 204159787 204159787 G C snp nonsynonymous SNV C242G P81R hydrophobic,neutral polar,hydrophilic,charged(+) KISS1 Kiss1 ENSG00000170498 KiSS-1 metastasis-suppressor chr1:204159469-204165614 This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012] breast cancer ; Tobacco Use Disorder; precocious puberty; Hypertension; Puberty, Precocious; Menarch|Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hypogonadism|Puberty, Precocious; Hypogonadism|Kallmann Syndrome Homozygote null mice are infertile with abnormal sexual maturation associated with hypogonadotropism G alpha (q) signalling events GO:0007010;cytoskeleton organization;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0033686;positive regulation of luteinizing hormone secretion;IEA|GO:0043410;positive regulation of MAPK cascade;IEA|GO:0046697;decidualization;IEA|GO:0050806;positive regulation of synaptic transmission;IEA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IEA|GO:0060112;generation of ovulation cycle rhythm;IEA|GO:0060124;positive regulation of growth hormone secretion;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0016324;apical plasma membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA GO:0005515;protein binding;IPI|GO:0031773;kisspeptin receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KISS1 https://hpo.jax.org/app/browse/search?q=KISS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603286 http://www.informatics.jax.org/searchtool/Search.do?query=KISS1&submit=Quick%0D%12722ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KISS1 rs4889 0.329872 0.2090 0.3413 0.23 3 13 exonic exonic exonic KISS1 KISS1 ENSG00000170498 nonsynonymous SNV nonsynonymous SNV unknown KISS1:NM_002256:exon3:c.C242G:p.P81R, KISS1:uc001har.3:exon3:c.C242G:p.P81R, UNKNOWN Het;G>C 881;52|43 Hom;G>C 2036;0|77 N N - 1 20442054 20442054 T C snp nonsynonymous SNV A238G S80G polar,hydrophilic,neutral aliphatic,neutral PLA2G2D Pla2g2d ENSG00000117215 phospholipase A2 group IID chr1:20438432-20446050 This gene encodes a secreted member of the phospholipase A2 family, and is found in a cluster of related family members on chromosome 1. Phospholipase A2 family members hydrolyze the sn-2 fatty acid ester bond of glycerophospholipids to produce lysophospholipids and free fatty acid. This gene may be involved in inflammation and immune response, and in weight loss associated with chronic obstructive pulmonary disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012] weight loss; HIV; bipolar disorder; Alzheimer's disease Mice homozygous for a knock-out allele exhibit impaired resolution of hapten-induced contact hypersensitivity. Synthesis of PA GO:0002361;CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;TAS|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0006954;inflammatory response;TAS|GO:0016042;lipid catabolic process;IEA|GO:0036148;phosphatidylglycerol acyl-chain remodeling;TAS|GO:0036149;phosphatidylinositol acyl-chain remodeling;TAS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0036151;phosphatidylcholine acyl-chain remodeling;TAS|GO:0036152;phosphatidylethanolamine acyl-chain remodeling;TAS|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0050482;arachidonic acid secretion;IEA|GO:0050868;negative regulation of T cell activation;IEA GO:0005576;extracellular region;TAS GO:0004623;phospholipase A2 activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLA2G2D https://www.uniprot.org/uniprot/Q9UNK4 https://www.ncbi.nlm.nih.gov/omim/?term=605630 http://www.informatics.jax.org/searchtool/Search.do?query=PLA2G2D&submit=Quick%0D%4849ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLA2G2D rs584367 0.769369 0.6909 0.6607 0.08 1 13 exonic exonic exonic PLA2G2D PLA2G2D ENSG00000117215 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV PLA2G2D:NM_012400:exon3:c.A238G:p.S80G, PLA2G2D:uc001bcz.4:exon3:c.A238G:p.S80G, ENSG00000117215:ENST00000375105:exon3:c.A238G:p.S80G, Het;T>C 738;48|39 Hom;T>C 1690;0|62 N N - 1 205290794 205290794 G A snp nonsynonymous SNV C95T T32I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral NUAK2 Nuak2 ENSG00000163545 NUAK family kinase 2 chr1:205271187-205290883 Most homozygous null mice are exencephalic and die at E16.5 while survivors show a higher number of azoxymethane (AOM)-induced aberrant crypt foci (ACF) in colon. Heterozygotes show increased susceptibility to AOM-induced ACF formation and colon tumors, mature-onset obesity and metabolic disorders. GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0016310;phosphorylation;IEA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035556;intracellular signal transduction;IBA|GO:0042149;cellular response to glucose starvation;IDA|GO:0043066;negative regulation of apoptotic process;IDA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0016607;nuclear speck;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUAK2 https://www.ncbi.nlm.nih.gov/omim/?term=608131 http://www.informatics.jax.org/searchtool/Search.do?query=NUAK2&submit=Quick%0D%11006ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUAK2 rs3738746 0.289936 0.3625 0.3255 1 0 0 exonic UTR5 UTR5 NUAK2 NUAK2(uc001hce.3:c.-38C>T) ENSG00000163545(ENST00000367157:c.-38C>T) nonsynonymous SNV Na Na NUAK2:NM_030952:exon1:c.C95T:p.T32I, Na Na Het;G>A 948;54|48 Hom;G>A 2418;0|95 N N - 1 205554085 205554085 G C snp nonsynonymous SNV G941C G314A aliphatic,neutral aliphatic,hydrophobic,neutral MFSD4 rs7526132 0.425919 0.5382 0.4449 0.31 4 13 exonic exonic exonic MFSD4 MFSD4 ENSG00000174514 nonsynonymous SNV nonsynonymous SNV unknown MFSD4:NM_181644:exon5:c.G941C:p.G314A, MFSD4:uc010prk.2:exon4:c.G680C:p.G227A,MFSD4:uc010prm.2:exon4:c.G776C:p.G259A,MFSD4:uc001hcv.4:exon5:c.G941C:p.G314A, UNKNOWN Het;G>C 3286;84|86 Hom;G>C 6553;2|151 N N - 1 205814497 205814497 T C snp nonsynonymous SNV A445G I149V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PM20D1 Pm20d1 ENSG00000162877 peptidase M20 domain containing 1 chr1:205797150-205819260 Parkinson's disease; HIV Infections|[X]Human immunodeficiency virus disease GO:0006508;proteolysis;IEA|GO:0006520;cellular amino acid metabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0043604;amide biosynthetic process;IDA|GO:0043605;cellular amide catabolic process;IDA|GO:0044255;cellular lipid metabolic process;IDA|GO:0097009;energy homeostasis;IEA|GO:1901215;negative regulation of neuron death;IMP|GO:1990845;adaptive thermogenesis;IEA|GO:2000275;regulation of oxidative phosphorylation uncoupler activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016811;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PM20D1 https://www.ncbi.nlm.nih.gov/omim/?term=617124 http://www.informatics.jax.org/searchtool/Search.do?query=PM20D1&submit=Quick%0D%10818ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PM20D1 rs1891460 0.838458 0.9250 0.8833 0.23 3 13 exonic exonic exonic PM20D1 PM20D1 ENSG00000162877 nonsynonymous SNV nonsynonymous SNV unknown PM20D1:NM_152491:exon3:c.A445G:p.I149V, PM20D1:uc001hdj.3:exon3:c.A445G:p.I149V, UNKNOWN Het;T>C 1049;65|46 Hom;T>C 2833;0|108 N N - 1 206758077 206758077 T A snp nonsynonymous SNV T1049A L350H aliphatic,hydrophobic,neutral aromatic,polar,hydrophilic,charged(+) RASSF5 Rassf5 ENSG00000266094 Ras association domain family member 5 chr1:206680879-206762616 This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] smoking cessation; breast cancer; Tobacco Use Disorder Homozygotes for a null allele have defects in lymphocyte homing to lymphoid tissues, B cell maturation and dendritic cell function, and display lymphocyte hyperproliferation leading to lupus glomerulonephritis and lymphomas. Homozygotes for another null allele are resistant to TNF-induced apoptosis. GO:0006915;apoptotic process;IEA|GO:0007165;signal transduction;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0031398;positive regulation of protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:1900180;regulation of protein localization to nucleus;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RASSF5 https://www.ncbi.nlm.nih.gov/omim/?term=607020 http://www.informatics.jax.org/searchtool/Search.do?query=RASSF5&submit=Quick%0D%20616ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASSF5 rs4418597 0.727436 0 0.7986 1 0 0 intronic exonic intronic RASSF5 RASSF5 ENSG00000136653 Na nonsynonymous SNV Na Na RASSF5:uc001hec.1:exon4:c.T1049A:p.L350H, Na Het;T>A 706;23|31 Hom;T>A 1587;0|62 N N - 1 207015957 207015957 T C snp nonsynonymous SNV T524C F175S aromatic,hydrophobic,neutral polar,hydrophilic,neutral IL19 Il19 ENSG00000142224 interleukin 19 chr1:206972215-207016324 The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq, Jul 2008] respiratory syncytial virus bronchiolitis; hepatitis C; diabetes, type 1 ; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis B; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Multiple Myeloma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis B, Chronic; benzene haematotoxicity; palmoplanta pustulosis; HIV Infections|[X]Human immunodeficiency virus disease; major depressive disorder; major depressive disorder and panic disorder; Tobacco Use Disorder; longevity; DNA Damage|Leukemia, Lymphocytic, Chronic, B-Cell; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; ulcerative colitis; Inflammation|Venous Thromboembolism Mice homozygous for a knock-out allele exhibit interleukin-23 (IL-23)-dependent epidermal hyperplasia. Mice homozygous for a different knock-out allele exhibit increased susceptibility to induced colitis with reduced B cell infiltration in chronic colitis. Interleukin-19,20,22,24,26,28 and 29 signaling GO:0006915;apoptotic process;IEA|GO:0006955;immune response;NAS|GO:0007165;signal transduction;NAS|GO:0042226;interleukin-6 biosynthetic process;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA GO:0005125;cytokine activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/IL19 https://www.uniprot.org/uniprot/Q9UHD0 https://www.ncbi.nlm.nih.gov/omim/?term=605687 http://www.informatics.jax.org/searchtool/Search.do?query=IL19&submit=Quick%0D%8265ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL19 rs2243191 0.672923 0.7963 0.7479 0.15 2 13 exonic exonic exonic IL19 IL19 ENSG00000142224 nonsynonymous SNV nonsynonymous SNV unknown IL19:NM_013371:exon7:c.T524C:p.F175S,IL19:NM_153758:exon6:c.T638C:p.F213S, IL19:uc001hep.3:exon7:c.T524C:p.F175S,IL19:uc001heo.3:exon6:c.T638C:p.F213S, UNKNOWN Het;T>C 990;42|45 Hom;T>C 2548;0|90 N N - 1 20977000 20977000 A C snp nonsynonymous SNV A1562C N521T polar,hydrophilic,neutral polar,hydrophilic,neutral PINK1 Pink1 ENSG00000158828 PTEN induced putative kinase 1 chr1:20959948-20978004 This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008] Parkinsons disease; Parkinson's disease ; Chronic renal failure|Kidney Failure, Chronic; Parkinsonian Disorders; null; Parkinson Disease; Parkinson's disease; Diabetes Mellitus, Type 2; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder Some mice homozygous for null mutations exhibit decreased dopamine content, reduced long term potentional and depression, mitochondrial abnormalities, and/or behavioral abnormalities. Some null mice model the early stages of Parkinson Disease. Pink/Parkin Mediated Mitophagy GO:0000422;mitophagy;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002082;regulation of oxidative phosphorylation;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006511;ubiquitin-dependent protein catabolic process;TAS|GO:0006914;autophagy;IEA|GO:0006950;response to stress;IDA|GO:0006979;response to oxidative stress;IGI|GO:0007005;mitochondrion organization;IMP|GO:0010310;regulation of hydrogen peroxide metabolic process;IEA|GO:0010629;negative regulation of gene expression;ISS|GO:0010821;regulation of mitochondrion organization;IMP|GO:0010952;positive regulation of peptidase activity;TAS|GO:0016236;macroautophagy;TAS|GO:0016239;positive regulation of macroautophagy;IMP|GO:0016242;negative regulation of macroautophagy;IMP|GO:0016310;phosphorylation;NAS|GO:0016567;protein ubiquitination;IMP|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0022904;respiratory electron transport chain;IEA|GO:0031396;regulation of protein ubiquitination;IMP|GO:0031398;positive regulation of protein ubiquitination;ISS|GO:0032148;activation of protein kinase B activity;IC|GO:0032226;positive regulation of synaptic transmission, dopaminergic;IEA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0033603;positive regulation of dopamine secretion;IEA|GO:0033605;positive regulation of catecholamine secretion;IEA|GO:0034599;cellular response to oxidative stress;IMP|GO:0035307;positive regulation of protein dephosphorylation;IEA|GO:0035556;intracellular signal transduction;IDA|GO:0036289;peptidyl-serine autophosphorylation;IMP|GO:0038203;TORC2 signaling;IC|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0043254;regulation of protein complex assembly;IDA|GO:0043523;regulation of neuron apoptotic process;IEA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0045727;positive regulation of translation;IEA|GO:0046329;negative regulation of JNK cascade;TAS|GO:0050821;protein stabilization;IMP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051443;positive regulation of ubiquitin-protein transferase activity;TAS|GO:0051881;regulation of mitochondrial membrane potential;IGI|GO:0051897;positive regulation of protein kinase B signaling;IC|GO:0061136;regulation of proteasomal protein catabolic process;NAS|GO:0071456;cellular response to hypoxia;IMP|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:0090141;positive regulation of mitochondrial fission;IBA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IMP|GO:0090258;negative regulation of mitochondrial fission;IMP|GO:0097237;cellular response to toxic substance;TAS|GO:0098779;positive regulation of macromitophagy in response to mitochondrial depolarization;IMP|GO:0099074;mitochondrion to lysosome transport;IMP|GO:1900407;regulation of cellular response to oxidative stress;IMP|GO:1901727;positive regulation of histone deacetylase activity;IEA|GO:1902803;regulation of synaptic vesicle transport;TAS|GO:1902902;negative regulation of autophagosome assembly;IMP|GO:1902958;positive regulation of mitochondrial electron transport, NADH to ubiquinone;TAS|GO:1903146;regulation of mitophagy;TAS|GO:1903147;negative regulation of mitophagy;IMP|GO:1903202;negative regulation of oxidative stress-induced cell death;IDA|GO:1903204;negative regulation of oxidative stress-induced neuron death;TAS|GO:1903214;regulation of protein targeting to mitochondrion;IDA|GO:1903298;negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway;IEA|GO:1903384;negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway;IDA|GO:1903751;negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide;IDA|GO:1903852;positive regulation of cristae formation;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:1904544;positive regulation of free ubiquitin chain polymerization;ISS|GO:2000377;regulation of reactive oxygen species metabolic process;IGI|GO:2000378;negative regulation of reactive oxygen species metabolic process;IMP|GO:2001171;positive regulation of ATP biosynthetic process;TAS GO:0000151;ubiquitin ligase complex;ISS|GO:0000785;chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005742;mitochondrial outer membrane translocase complex;IMP|GO:0005743;mitochondrial inner membrane;IDA|GO:0005758;mitochondrial intermembrane space;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IDA|GO:0031307;integral component of mitochondrial outer membrane;IDA|GO:0031932;TORC2 complex;IPI|GO:0044297;cell body;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0097413;Lewy body;TAS|GO:0097449;astrocyte projection;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0002020;protease binding;IPI|GO:0004672;protein kinase activity;IMP|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0010857;calcium-dependent protein kinase activity;IDA|GO:0016301;kinase activity;NAS|GO:0016504;peptidase activator activity;TAS|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0043422;protein kinase B binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055131;C3HC4-type RING finger domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PINK1 https://hpo.jax.org/app/browse/search?q=PINK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608309 http://www.informatics.jax.org/searchtool/Search.do?query=PINK1&submit=Quick%0D%10259ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PINK1 rs1043424 0.300519 0.2700 0.2974 0.08 1 13 exonic exonic exonic PINK1 PINK1 ENSG00000158828 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV PINK1:NM_032409:exon8:c.A1562C:p.N521T, PINK1:uc001bdm.3:exon8:c.A1562C:p.N521T,PINK1:uc001bdn.3:exon4:c.A641C:p.N214T, ENSG00000158828:ENST00000321556:exon8:c.A1562C:p.N521T, Het;A>C 1762;102|78 Hom;A>C 4426;0|149 N N - 1 226352498 226352498 T G snp nonsynonymous SNV A561C E187D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) ACBD3 Acbd3 ENSG00000182827 acyl-CoA binding domain containing 3 chr1:226332380-226374431 The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Lymphoma, Non-Hodgkin Golgi Associated Vesicle Biogenesis GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006810;transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0000062;fatty-acyl-CoA binding;IEA|GO:0005515;protein binding;IPI|GO:0034237;protein kinase A regulatory subunit binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ACBD3 https://www.ncbi.nlm.nih.gov/omim/?term=606809 http://www.informatics.jax.org/searchtool/Search.do?query=ACBD3&submit=Quick%0D%14863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACBD3 rs2306120 0.53115 0.5990 0.5747 0.46 6 13 exonic exonic exonic ACBD3 ACBD3 ENSG00000182827 nonsynonymous SNV nonsynonymous SNV unknown ACBD3:NM_022735:exon3:c.A561C:p.E187D, ACBD3:uc001hpy.3:exon3:c.A561C:p.E187D, UNKNOWN Het;T>G 1217;88|58 Hom;T>G 3645;0|130 N N - 1 236208773 236208773 C T snp nonsynonymous SNV G736A V246I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NID1 Nid1 ENSG00000116962 nidogen 1 chr1:236139130-236228462 This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008] Nevi and Melanomas Mice homozygous for a knock-out allele exhibit neurologic deficits including seizure-like symptoms and loss of muscle control in the hind legs, and show altered basement membrane morphology in selected locations including brain capillaries and the lens capsule. Laminin interactions GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0010811;positive regulation of cell-substrate adhesion;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0032836;glomerular basement membrane development;IEA|GO:0071711;basement membrane organization;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IDA|GO:0005605;basal lamina;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0071944;cell periphery;IEA GO:0005509;calcium ion binding;IEA|GO:0005518;collagen binding;IDA|GO:0043236;laminin binding;IDA|GO:0043237;laminin-1 binding;IEA|GO:0043394;proteoglycan binding;IPI|GO:0050840;extracellular matrix binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NID1 https://www.uniprot.org/uniprot/P14543 https://www.ncbi.nlm.nih.gov/omim/?term=131390 http://www.informatics.jax.org/searchtool/Search.do?query=NID1&submit=Quick%0D%4815ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NID1 rs10733133 0.58726 0.4933 0.4858 0.08 1 13 exonic exonic exonic NID1 NID1 ENSG00000116962 nonsynonymous SNV nonsynonymous SNV unknown NID1:NM_002508:exon3:c.G736A:p.V246I, NID1:uc001hxo.3:exon3:c.G736A:p.V246I,NID1:uc009xgd.3:exon3:c.G736A:p.V246I, UNKNOWN Het;C>T 681;35|33 Hom;C>T 2011;0|73 N N - 1 236899899 236899900 TC T indel frameshift substitution 90_91T ACTN2 Actn2 ENSG00000077522 actinin alpha 2 chr1:236849754-236927931 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] Alcoholism; Tobacco Use Disorder; null; Psychiatric Disorders; several psychiatric disorders; Cardiomyopathy, Hypertrophic; suicide; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy RAF/MAP kinase cascade GO:0000165;MAPK cascade;TAS|GO:0002576;platelet degranulation;TAS|GO:0006936;muscle contraction;IEA|GO:0007155;cell adhesion;TAS|GO:0030035;microspike assembly;IDA|GO:0030049;muscle filament sliding;TAS|GO:0042391;regulation of membrane potential;IMP|GO:0042981;regulation of apoptotic process;NAS|GO:0043267;negative regulation of potassium ion transport;IMP|GO:0043268;positive regulation of potassium ion transport;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045214;sarcomere organization;IMP|GO:0048041;focal adhesion assembly;IMP|GO:0051289;protein homotetramerization;IDA|GO:0051695;actin filament uncapping;IMP|GO:0055013;cardiac muscle cell development;IEA|GO:0086097;phospholipase C-activating angiotensin-activated signaling pathway;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP|GO:1901017;negative regulation of potassium ion transmembrane transporter activity;IMP|GO:1901018;positive regulation of potassium ion transmembrane transporter activity;IDA|GO:1903506;regulation of nucleic acid-templated transcription;IEA|GO:2000009;negative regulation of protein localization to cell surface;IMP|GO:2000273;positive regulation of receptor activity;IEA|GO:2001137;positive regulation of endocytic recycling;IMP|GO:2001259;positive regulation of cation channel activity;IMP GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;NAS|GO:0005884;actin filament;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IMP|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0030175;filopodium;IDA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031093;platelet alpha granule lumen;TAS|GO:0031143;pseudopodium;TAS|GO:0043197;dendritic spine;TAS|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005178;integrin binding;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0008307;structural constituent of muscle;TAS|GO:0019904;protein domain specific binding;IPI|GO:0030274;LIM domain binding;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IEA|GO:0030375;thyroid hormone receptor coactivator activity;IEA|GO:0031432;titin binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IMP|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IDA|GO:0051015;actin filament binding;IEA|GO:0051373;FATZ binding;IDA|GO:0070080;titin Z domain binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/ACTN2 https://www.uniprot.org/uniprot/P35609 https://hpo.jax.org/app/browse/search?q=ACTN2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102573 http://www.informatics.jax.org/searchtool/Search.do?query=ACTN2&submit=Quick%0D%1629ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTN2 rs11355106 0.528155 0 0.6069 1 0 0 exonic exonic intronic ACTN2 ACTN2 ENSG00000077522 frameshift substitution frameshift substitution Na ACTN2:NM_001278344:exon10:c.90_91T, ACTN2:uc001hyg.2:exon10:c.90_91T, Na Het;-C 1038;37|40 Hom;-C 1532;0|48 N N - 1 247615261 247615262 GA G indel frameshift substitution 23_24C OR2B11 Olfr222 ENSG00000177535 olfactory receptor family 2 subfamily B member 11 chr1:247614255-247615308 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR2B11 http://www.informatics.jax.org/searchtool/Search.do?query=OR2B11&submit=Quick%0D%14042ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2B11 rs35305980 0.449081 0.3948 0.4629 1 0 0 exonic exonic exonic OR2B11 OR2B11 ENSG00000177535 frameshift substitution frameshift substitution unknown OR2B11:NM_001004492:exon1:c.23_24C, OR2B11:uc010pyx.2:exon1:c.23_24C, UNKNOWN Het;-A 1054;84|39 Hom;-A 4271;0|115 N N - 1 248059423 248059423 C T snp nonsynonymous SNV C535T R179C polar,hydrophilic,charged(+) polar,hydrophobic,neutral OR2W3 Olfr322 ENSG00000238243 olfactory receptor family 2 subfamily W member 3 chr1:248031277-248060449 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Lipoproteins, HDL Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR2W3 https://www.ncbi.nlm.nih.gov/omim/?term=616729 http://www.informatics.jax.org/searchtool/Search.do?query=OR2W3&submit=Quick%0D%19554ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2W3 rs10888267 0.388978 0.4300 0.4775 0.15 2 13 exonic exonic exonic OR2W3 OR2W3,TRIM58 ENSG00000238243 nonsynonymous SNV nonsynonymous SNV unknown OR2W3:NM_001001957:exon1:c.C535T:p.R179C, OR2W3:uc010pzb.2:exon1:c.C535T:p.R179C,TRIM58:uc001idp.1:exon3:c.C535T:p.R179C, UNKNOWN Het;C>T 1336;68|61 Hom;C>T 3220;3|123 N N - 1 248059456 248059456 G A snp nonsynonymous SNV G568A V190I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR2W3 Olfr322 ENSG00000238243 olfactory receptor family 2 subfamily W member 3 chr1:248031277-248060449 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Lipoproteins, HDL Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR2W3 https://www.ncbi.nlm.nih.gov/omim/?term=616729 http://www.informatics.jax.org/searchtool/Search.do?query=OR2W3&submit=Quick%0D%19554ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2W3 rs12135078 0.363618 0.4000 0.4613 0.08 1 13 exonic exonic exonic OR2W3 OR2W3,TRIM58 ENSG00000238243 nonsynonymous SNV nonsynonymous SNV unknown OR2W3:NM_001001957:exon1:c.G568A:p.V190I, OR2W3:uc010pzb.2:exon1:c.G568A:p.V190I,TRIM58:uc001idp.1:exon3:c.G568A:p.V190I, UNKNOWN Het;G>A 1575;88|75 Hom;G>A 3841;2|142 N N - 1 248059703 248059703 T A snp nonsynonymous SNV T815A M272K hydrophobic,neutral polar,hydrophilic,charged(+) OR2W3 Olfr322 ENSG00000238243 olfactory receptor family 2 subfamily W member 3 chr1:248031277-248060449 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Lipoproteins, HDL Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR2W3 https://www.ncbi.nlm.nih.gov/omim/?term=616729 http://www.informatics.jax.org/searchtool/Search.do?query=OR2W3&submit=Quick%0D%19554ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2W3 rs11204545 0.478035 0.5499 0.5747 0.15 2 13 exonic exonic exonic OR2W3 OR2W3,TRIM58 ENSG00000238243 nonsynonymous SNV nonsynonymous SNV unknown OR2W3:NM_001001957:exon1:c.T815A:p.M272K, OR2W3:uc010pzb.2:exon1:c.T815A:p.M272K,TRIM58:uc001idp.1:exon3:c.T815A:p.M272K, UNKNOWN Het;T>A 2094;78|58 Hom;T>A 4676;0|107 N N - 1 248059712 248059712 T C snp nonsynonymous SNV T824C M275T hydrophobic,neutral polar,hydrophilic,neutral OR2W3 Olfr322 ENSG00000238243 olfactory receptor family 2 subfamily W member 3 chr1:248031277-248060449 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Lipoproteins, HDL Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR2W3 https://www.ncbi.nlm.nih.gov/omim/?term=616729 http://www.informatics.jax.org/searchtool/Search.do?query=OR2W3&submit=Quick%0D%19554ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2W3 rs11204546 0.479832 0.5532 0.5799 0.23 3 13 exonic exonic exonic OR2W3 OR2W3,TRIM58 ENSG00000238243 nonsynonymous SNV nonsynonymous SNV unknown OR2W3:NM_001001957:exon1:c.T824C:p.M275T, OR2W3:uc010pzb.2:exon1:c.T824C:p.M275T,TRIM58:uc001idp.1:exon3:c.T824C:p.M275T, UNKNOWN Het;T>C 2035;75|55 Hom;T>C 4678;0|105 N N - 1 248084434 248084434 G A snp nonsynonymous SNV G115A G39S aliphatic,neutral polar,hydrophilic,neutral OR2T8 Olfr314 ENSG00000177462 chr1:248084320-248085258 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR2T8 http://www.informatics.jax.org/searchtool/Search.do?query=OR2T8&submit=Quick%0D%14026ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2T8 rs11204563 0.462859 0 0.6421 0.25 3 12 exonic exonic exonic OR2T8 OR2T8 ENSG00000177462 nonsynonymous SNV nonsynonymous SNV unknown OR2T8:NM_001005522:exon1:c.G115A:p.G39S, OR2T8:uc010pzc.2:exon1:c.G115A:p.G39S, UNKNOWN Het;G>A 358;16|14 Hom;G>A 1282;0|44 N N - 1 248112763 248112763 G A snp nonsynonymous SNV G604A A202T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral OR2L8 ENSG00000279263 olfactory receptor family 2 subfamily L member 8 (gene/pseudogene) chr1:248112160-248113098 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0008150;biological_process;ND|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR2L8 http://www.informatics.jax.org/searchtool/Search.do?query=OR2L8&submit=Quick%0D%22171ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2L8 rs4925790 0.743211 0.5794 0.7948 0.08 1 13 exonic exonic exonic OR2L8 OR2L8 ENSG00000196936 nonsynonymous SNV nonsynonymous SNV unknown OR2L8:NM_001001963:exon1:c.G604A:p.A202T, OR2L8:uc001idt.1:exon1:c.G604A:p.A202T, UNKNOWN Het;G>A 421;2|10 Hom;G>A 940;0|21 N N - 1 2487766 2487766 T C snp nonsynonymous SNV A296G H99R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) LOC100133445 rs2227313 0.610823 0 0.5863 1 0 0 ncRNA_exonic exonic ncRNA_exonic LOC115110 LOC100133445 ENSG00000238164 Na nonsynonymous SNV Na Na LOC100133445:uc021oev.1:exon2:c.A296G:p.H99R, Na Het;T>C 1679;104|77 Hom;T>C 5198;1|187 N N - 1 2488153 2488153 A G snp nonsynonymous SNV A50G K17R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) TNFRSF14 Tnfrsf14 ENSG00000273936 TNF receptor superfamily member 14 chr1:2487078-2496821 This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Arthritis, Rheumatoid|Rheumatoid Arthritis; Multiple Myeloma; diabetes, type 1 ; Brill-Symmers disease|Chromosome Deletion|Lymphoma, Follicular; subacute sclerosing panencephalitis; antibody response to pertussis vaccination; Celiac disease; benzene haematotoxicity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Colitis, Ulcerative; Arthritis, Rheumatoid| Homozygotes for a null allele are less susceptible to induced colitis. Homozygotes for a second null allele exhibit enhanced responses to various T cell stimuli and are more susceptible to developing autoimmune diseases. Homozygotes for a third null allele show reduced length of allograft survival. TNFs bind their physiological receptors GO:0006954;inflammatory response;IBA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IBA|GO:0016032;viral process;IEA|GO:0031295;T cell costimulation;TAS|GO:0032496;response to lipopolysaccharide;IBA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0046718;viral entry into host cell;IEA|GO:0097190;apoptotic signaling pathway;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001618;virus receptor activity;IEA|GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF14 https://www.ncbi.nlm.nih.gov/omim/?term=602746 http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF14&submit=Quick%0D%21013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF14 rs4870 0.614816 0.5580 0.5443 0.25 3 12 exonic exonic exonic TNFRSF14 TNFRSF14 ENSG00000157873 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV TNFRSF14:NM_003820:exon1:c.A50G:p.K17R,TNFRSF14:NM_001297605:exon1:c.A50G:p.K17R, TNFRSF14:uc001ajr.3:exon1:c.A50G:p.K17R,TNFRSF14:uc009vlf.1:exon1:c.A50G:p.K17R,TNFRSF14:uc010nzc.1:exon1:c.A50G:p.K17R, ENSG00000157873:ENST00000355716:exon1:c.A50G:p.K17R,ENSG00000157873:ENST00000426449:exon2:c.A50G:p.K17R,ENSG00000157873:ENST00000409119:exon2:c.A50G:p.K17R,ENSG00000157873:ENST00000434817:exon2:c.A50G:p.K17R,ENSG00000157873:ENST00000451778:exon2:c.A50G:p.K17R,ENSG00000157873:ENST00000435221:exon2:c.A50G:p.K17R, Het;A>G 1440;75|69 Hom;A>G 2428;0|84 N N - 1 2490942 2490942 C A snp nonsynonymous SNV C494A A165E aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) TNFRSF14 Tnfrsf14 ENSG00000273936 TNF receptor superfamily member 14 chr1:2487078-2496821 This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Arthritis, Rheumatoid|Rheumatoid Arthritis; Multiple Myeloma; diabetes, type 1 ; Brill-Symmers disease|Chromosome Deletion|Lymphoma, Follicular; subacute sclerosing panencephalitis; antibody response to pertussis vaccination; Celiac disease; benzene haematotoxicity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Colitis, Ulcerative; Arthritis, Rheumatoid| Homozygotes for a null allele are less susceptible to induced colitis. Homozygotes for a second null allele exhibit enhanced responses to various T cell stimuli and are more susceptible to developing autoimmune diseases. Homozygotes for a third null allele show reduced length of allograft survival. TNFs bind their physiological receptors GO:0006954;inflammatory response;IBA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IBA|GO:0016032;viral process;IEA|GO:0031295;T cell costimulation;TAS|GO:0032496;response to lipopolysaccharide;IBA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0046718;viral entry into host cell;IEA|GO:0097190;apoptotic signaling pathway;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001618;virus receptor activity;IEA|GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF14 https://www.ncbi.nlm.nih.gov/omim/?term=602746 http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF14&submit=Quick%0D%21013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF14 rs2281852 0.597843 0 0.5713 1 0 0 intronic exonic intronic TNFRSF14 TNFRSF14 ENSG00000157873 Na nonsynonymous SNV Na Na TNFRSF14:uc001ajt.1:exon3:c.C494A:p.A165E, Na Het;C>A 2030;104|99 Hom;C>A 4761;0|175 N N - 1 2491205 2491205 C T snp nonsynonymous SNV C757T R253C polar,hydrophilic,charged(+) polar,hydrophobic,neutral TNFRSF14 Tnfrsf14 ENSG00000273936 TNF receptor superfamily member 14 chr1:2487078-2496821 This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Arthritis, Rheumatoid|Rheumatoid Arthritis; Multiple Myeloma; diabetes, type 1 ; Brill-Symmers disease|Chromosome Deletion|Lymphoma, Follicular; subacute sclerosing panencephalitis; antibody response to pertussis vaccination; Celiac disease; benzene haematotoxicity; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; null; Colitis, Ulcerative; Arthritis, Rheumatoid| Homozygotes for a null allele are less susceptible to induced colitis. Homozygotes for a second null allele exhibit enhanced responses to various T cell stimuli and are more susceptible to developing autoimmune diseases. Homozygotes for a third null allele show reduced length of allograft survival. TNFs bind their physiological receptors GO:0006954;inflammatory response;IBA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IBA|GO:0016032;viral process;IEA|GO:0031295;T cell costimulation;TAS|GO:0032496;response to lipopolysaccharide;IBA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;IBA|GO:0046718;viral entry into host cell;IEA|GO:0097190;apoptotic signaling pathway;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001618;virus receptor activity;IEA|GO:0005031;tumor necrosis factor-activated receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TNFRSF14 https://www.ncbi.nlm.nih.gov/omim/?term=602746 http://www.informatics.jax.org/searchtool/Search.do?query=TNFRSF14&submit=Quick%0D%21013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFRSF14 rs2234161 0.64397 0 0.6596 1 0 0 intronic exonic intronic TNFRSF14 TNFRSF14 ENSG00000157873 Na nonsynonymous SNV Na Na TNFRSF14:uc001ajt.1:exon3:c.C757T:p.R253C, Na Het;C>T 885;46|39 Hom;C>T 2018;0|69 N N - 1 25889632 25889632 T C snp nonsynonymous SNV T604C S202P polar,hydrophilic,neutral hydrophobic,neutral LDLRAP1 Ldlrap1 ENSG00000157978 low density lipoprotein receptor adaptor protein 1 chr1:25870071-25895377 The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008] cholesterol, LDL; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|Myocardial Infarction Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH). LDL clearance GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;NAS|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;IDA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0031623;receptor internalization;IMP|GO:0034383;low-density lipoprotein particle clearance;IMP|GO:0042632;cholesterol homeostasis;IMP|GO:0042982;amyloid precursor protein metabolic process;IMP|GO:0043393;regulation of protein binding;IMP|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0061024;membrane organization;TAS|GO:0090003;regulation of establishment of protein localization to plasma membrane;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:0090205;positive regulation of cholesterol metabolic process;IC|GO:1905602;positive regulation of receptor-mediated endocytosis involved in cholesterol transport;IMP GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005829;cytosol;IDA|GO:0005883;neurofilament;ISS|GO:0005886;plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0009925;basal plasma membrane;IDA|GO:0030121;AP-1 adaptor complex;IDA|GO:0030122;AP-2 adaptor complex;IDA|GO:0030424;axon;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0055037;recycling endosome;IDA GO:0001540;beta-amyloid binding;IPI|GO:0001784;phosphotyrosine binding;IDA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0030159;receptor signaling complex scaffold activity;IMP|GO:0030276;clathrin binding;IDA|GO:0035591;signaling adaptor activity;IDA|GO:0035612;AP-2 adaptor complex binding;IDA|GO:0035615;clathrin adaptor activity;IDA|GO:0050750;low-density lipoprotein particle receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLRAP1 https://hpo.jax.org/app/browse/search?q=LDLRAP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605747 http://www.informatics.jax.org/searchtool/Search.do?query=LDLRAP1&submit=Quick%0D%10151ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLRAP1 rs6687605 0.434904 0.4693 0.5011 0.08 1 13 exonic exonic exonic LDLRAP1 LDLRAP1 ENSG00000157978 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV LDLRAP1:NM_015627:exon6:c.T604C:p.S202P, LDLRAP1:uc001bkl.4:exon6:c.T604C:p.S202P,LDLRAP1:uc009vrx.3:exon1:c.T94C:p.S32P, ENSG00000157978:ENST00000374338:exon6:c.T604C:p.S202P, Het;T>C 874;53|43 Hom;T>C 3178;0|111 N N - 1 26610891 26610891 A C snp nonsynonymous SNV T575G L192R aliphatic,hydrophobic,neutral polar,hydrophilic,charged(+) UBXN11 Ubxn11 ENSG00000158062 UBX domain protein 11 chr1:26607819-26644854 This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IBA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/UBXN11 https://www.ncbi.nlm.nih.gov/omim/?term=609151 http://www.informatics.jax.org/searchtool/Search.do?query=UBXN11&submit=Quick%0D%10164ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBXN11 rs4332350 0.727037 0.9192 0.8276 0.08 1 13 exonic exonic exonic UBXN11 UBXN11 ENSG00000158062 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV UBXN11:NM_001077262:exon7:c.T575G:p.L192R,UBXN11:NM_183008:exon12:c.T935G:p.L312R,UBXN11:NM_145345:exon11:c.T836G:p.L279R, UBXN11:uc001bly.3:exon7:c.T575G:p.L192R,UBXN11:uc001blz.1:exon10:c.T836G:p.L279R,UBXN11:uc001blw.3:exon12:c.T935G:p.L312R,UBXN11:uc001bma.3:exon11:c.T836G:p.L279R,UBXN11:uc001blx.3:exon8:c.T209G:p.L70R, ENSG00000158062:ENST00000374222:exon12:c.T935G:p.L312R,ENSG00000158062:ENST00000374217:exon11:c.T836G:p.L279R,ENSG00000158062:ENST00000374221:exon12:c.T935G:p.L312R,ENSG00000158062:ENST00000314675:exon7:c.T575G:p.L192R,ENSG00000158062:ENST00000357089:exon10:c.T836G:p.L279R,ENSG00000158062:ENST00000374223:exon8:c.T206G:p.L69R, Het;A>C 882;85|45 Hom;A>C 3572;0|129 N N - 1 26646726 26646726 A G snp nonsynonymous SNV A119G N40S polar,hydrophilic,neutral polar,hydrophilic,neutral CD52 ENSG00000169442 CD52 molecule chr1:26644448-26647014 Mice homozygous for a null mutation are viable with no gross abnormalities and no defects in sperm development or function. Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0045730;respiratory burst;NAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CD52 https://www.ncbi.nlm.nih.gov/omim/?term=114280 http://www.informatics.jax.org/searchtool/Search.do?query=CD52&submit=Quick%0D%12497ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD52 rs1071849 0.580671 0.7320 0.6711 0.08 1 12 exonic exonic exonic CD52 CD52 ENSG00000169442 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CD52:NM_001803:exon2:c.A119G:p.N40S, CD52:uc001bmc.3:exon2:c.A119G:p.N40S, ENSG00000169442:ENST00000374213:exon2:c.A119G:p.N40S, Het;A>G 1358;36|36 Hom;A>G 4271;0|96 N N - 1 26646730 26646730 A G snp nonsynonymous SNV A123G I41M aliphatic,hydrophobic,neutral hydrophobic,neutral CD52 ENSG00000169442 CD52 molecule chr1:26644448-26647014 Mice homozygous for a null mutation are viable with no gross abnormalities and no defects in sperm development or function. Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0045730;respiratory burst;NAS GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CD52 https://www.ncbi.nlm.nih.gov/omim/?term=114280 http://www.informatics.jax.org/searchtool/Search.do?query=CD52&submit=Quick%0D%12497ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD52 rs17645 0.580671 0.7320 0.6711 0.17 2 12 exonic exonic exonic CD52 CD52 ENSG00000169442 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CD52:NM_001803:exon2:c.A123G:p.I41M, CD52:uc001bmc.3:exon2:c.A123G:p.I41M, ENSG00000169442:ENST00000374213:exon2:c.A123G:p.I41M, Het;A>G 1323;37|34 Hom;A>G 4197;0|97 N N - 1 32280610 32280610 T C snp nonsynonymous SNV A325G T109A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral SPOCD1 Spocd1 ENSG00000134668 SPOC domain containing 1 chr1:32256023-32281652 This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] GO:0006351;transcription, DNA-templated;IEA|GO:0010923;negative regulation of phosphatase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SPOCD1 https://www.uniprot.org/uniprot/Q6ZMY3 http://www.informatics.jax.org/searchtool/Search.do?query=SPOCD1&submit=Quick%0D%7012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPOCD1 rs6664445 0.6875 0.6718 0.6822 0.08 1 12 exonic exonic exonic SPOCD1 SPOCD1 ENSG00000134668 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV SPOCD1:NM_001281987:exon2:c.A325G:p.T109A,SPOCD1:NM_144569:exon2:c.A325G:p.T109A, SPOCD1:uc001bts.1:exon2:c.A325G:p.T109A,SPOCD1:uc001btu.3:exon2:c.A325G:p.T109A, ENSG00000134668:ENST00000360482:exon2:c.A325G:p.T109A,ENSG00000134668:ENST00000533231:exon1:c.A325G:p.T109A,ENSG00000134668:ENST00000373648:exon2:c.A325G:p.T109A, Het;T>C 1788;67|74 Hom;T>C 3213;2|105 N N - 1 3416449 3416449 C A snp nonsynonymous SNV G2747T R916L polar,hydrophilic,charged(+) aliphatic,hydrophobic,neutral MEGF6 Megf6 ENSG00000162591 multiple EGF like domains 6 chr1:3406484-3528059 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MEGF6 https://www.ncbi.nlm.nih.gov/omim/?term=604266 http://www.informatics.jax.org/searchtool/Search.do?query=MEGF6&submit=Quick%0D%10735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MEGF6 rs7553399 0.568291 0.6374 0.7228 0.23 3 13 exonic exonic exonic MEGF6 MEGF6 ENSG00000162591 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV MEGF6:NM_001409:exon22:c.G2747T:p.R916L, MEGF6:uc001akl.3:exon22:c.G2747T:p.R916L,MEGF6:uc001akk.3:exon19:c.G2432T:p.R811L, ENSG00000162591:ENST00000294599:exon19:c.G2432T:p.R811L,ENSG00000162591:ENST00000356575:exon22:c.G2747T:p.R916L,ENSG00000162591:ENST00000485002:exon22:c.G2768T:p.R923L, Het;C>A 971;32|46 Hom;C>A 1918;0|72 N N - 1 46476587 46476587 T G snp nonsynonymous SNV T1164G D388E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) MAST2 Mast2 ENSG00000086015 microtubule associated serine/threonine kinase 2 chr1:46252659-46501796 Calcium; Respiratory Function Tests No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene. GO:0006468;protein phosphorylation;ISS|GO:0007010;cytoskeleton organization;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0045075;regulation of interleukin-12 biosynthetic process;ISS|GO:0048515;spermatid differentiation;ISS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0015630;microtubule cytoskeleton;IBA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;ISS|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAST2 https://www.uniprot.org/uniprot/Q6P0Q8 https://www.ncbi.nlm.nih.gov/omim/?term=612257 http://www.informatics.jax.org/searchtool/Search.do?query=MAST2&submit=Quick%0D%1912ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAST2 rs11211247 0.874401 0.7864 0.7924 0.08 1 13 exonic exonic exonic MAST2 MAST2 ENSG00000086015 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV MAST2:NM_015112:exon10:c.T1164G:p.D388E, MAST2:uc001cow.3:exon10:c.T1164G:p.D388E,MAST2:uc001cov.3:exon10:c.T1164G:p.D388E,MAST2:uc001coz.1:exon8:c.T819G:p.D273E,MAST2:uc001coy.1:exon10:c.T288G:p.D96E,MAST2:uc009vya.3:exon9:c.T930G:p.D310E, ENSG00000086015:ENST00000361297:exon10:c.T1164G:p.D388E,ENSG00000086015:ENST00000372008:exon8:c.T819G:p.D273E, Het;T>G 543;37|26 Hom;T>G 2062;0|72 N N - 1 46493460 46493460 T G snp nonsynonymous SNV T1977G I659M aliphatic,hydrophobic,neutral hydrophobic,neutral MAST2 Mast2 ENSG00000086015 microtubule associated serine/threonine kinase 2 chr1:46252659-46501796 Calcium; Respiratory Function Tests No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene. GO:0006468;protein phosphorylation;ISS|GO:0007010;cytoskeleton organization;IBA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA|GO:0045075;regulation of interleukin-12 biosynthetic process;ISS|GO:0048515;spermatid differentiation;ISS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0015630;microtubule cytoskeleton;IBA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;ISS|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019902;phosphatase binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAST2 https://www.uniprot.org/uniprot/Q6P0Q8 https://www.ncbi.nlm.nih.gov/omim/?term=612257 http://www.informatics.jax.org/searchtool/Search.do?query=MAST2&submit=Quick%0D%1912ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAST2 rs1707336 0.485224 0.4297 0.4612 0.38 5 13 exonic exonic exonic MAST2 MAST2 ENSG00000086015 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV MAST2:NM_015112:exon17:c.T1977G:p.I659M, MAST2:uc001cow.3:exon17:c.T1977G:p.I659M,MAST2:uc001cov.3:exon17:c.T1977G:p.I659M,MAST2:uc001coz.1:exon15:c.T1632G:p.I544M,MAST2:uc001coy.1:exon16:c.T999G:p.I333M, ENSG00000086015:ENST00000361297:exon17:c.T1977G:p.I659M,ENSG00000086015:ENST00000372009:exon16:c.T1767G:p.I589M,ENSG00000086015:ENST00000372008:exon15:c.T1632G:p.I544M, Het;T>G 757;37|33 Hom;T>G 1880;0|69 N N - 1 47607851 47607851 A T snp nonsynonymous SNV A454T N152Y polar,hydrophilic,neutral aromatic,polar,hydrophobic CYP4A22 Cyp4a12b ENSG00000162365 cytochrome P450 family 4 subfamily A member 22 chr1:47603107-47615413 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22 https://www.ncbi.nlm.nih.gov/omim/?term=615341 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22 rs2056899 0.730831 0.5429 0.5301 0.08 1 13 exonic exonic exonic CYP4A22 CYP4A22 ENSG00000162365 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CYP4A22:NM_001010969:exon4:c.A454T:p.N152Y, CYP4A22:uc009vyp.3:exon4:c.A454T:p.N152Y,CYP4A22:uc001cqv.1:exon4:c.A454T:p.N152Y,CYP4A22:uc009vyo.3:exon4:c.A454T:p.N152Y, ENSG00000162365:ENST00000294337:exon4:c.A454T:p.N152Y,ENSG00000162365:ENST00000371890:exon4:c.A454T:p.N152Y,ENSG00000162365:ENST00000371891:exon4:c.A454T:p.N152Y, Het;A>T 1759;60|84 Hom;A>T 2900;0|107 N N - 1 47609489 47609489 T C snp nonsynonymous SNV T691C C231R polar,hydrophobic,neutral polar,hydrophilic,charged(+) CYP4A22 Cyp4a12b ENSG00000162365 cytochrome P450 family 4 subfamily A member 22 chr1:47603107-47615413 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Synthesis of Leukotrienes (LT) and Eoxins (EX) GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP4A22 https://www.ncbi.nlm.nih.gov/omim/?term=615341 http://www.informatics.jax.org/searchtool/Search.do?query=CYP4A22&submit=Quick%0D%10678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP4A22 rs10789501 0.580671 0.3917 0.4542 0.08 1 13 exonic exonic exonic CYP4A22 CYP4A22 ENSG00000162365 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CYP4A22:NM_001010969:exon6:c.T691C:p.C231R, CYP4A22:uc001cqv.1:exon6:c.T691C:p.C231R,CYP4A22:uc009vyo.3:exon6:c.T691C:p.C231R, ENSG00000162365:ENST00000294337:exon6:c.T691C:p.C231R,ENSG00000162365:ENST00000371891:exon6:c.T691C:p.C231R, Het;T>C 1770;109|85 Hom;T>C 5053;0|182 N N - 1 47726087 47726087 T C snp nonsynonymous SNV A2951G H984R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) STIL Stil ENSG00000123473 STIL, centriolar assembly protein chr1:47715811-47779819 This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice homozygous for disruptions in this gene die as embryos with various neural tube defects. GO:0000578;embryonic axis specification;ISS|GO:0001701;in utero embryonic development;ISS|GO:0001843;neural tube closure;ISS|GO:0001947;heart looping;ISS|GO:0007052;mitotic spindle organization;IMP|GO:0007224;smoothened signaling pathway;ISS|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;ISS|GO:0008283;cell proliferation;TAS|GO:0021915;neural tube development;ISS|GO:0030900;forebrain development;ISS|GO:0030903;notochord development;ISS|GO:0033504;floor plate development;ISS|GO:0035264;multicellular organism growth;ISS|GO:0043066;negative regulation of apoptotic process;ISS|GO:0046599;regulation of centriole replication;IMP|GO:0051298;centrosome duplication;IDA|GO:0071539;protein localization to centrosome;IMP GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STIL https://www.uniprot.org/uniprot/Q15468 https://hpo.jax.org/app/browse/search?q=STIL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=181590 http://www.informatics.jax.org/searchtool/Search.do?query=STIL&submit=Quick%0D%5532ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STIL rs13376679 0.178315 0.2826 0.2421 0.08 1 13 exonic exonic exonic STIL STIL ENSG00000123473 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV STIL:NM_001282936:exon17:c.A2951G:p.H984R,STIL:NM_001282939:exon18:c.A2759G:p.H920R,STIL:NM_001282938:exon18:c.A2813G:p.H938R,STIL:NM_001282937:exon17:c.A2900G:p.H967R,STIL:NM_001048166:exon16:c.A2954G:p.H985R,STIL:NM_003035:exon16:c.A2951G:p.H984R, STIL:uc001crd.1:exon16:c.A2954G:p.H985R,STIL:uc001crg.1:exon18:c.A2759G:p.H920R,STIL:uc010omn.1:exon17:c.A2813G:p.H938R,STIL:uc010omo.1:exon16:c.A2900G:p.H967R,STIL:uc001cre.1:exon17:c.A2951G:p.H984R,STIL:uc001crc.1:exon16:c.A2951G:p.H984R,STIL:uc001crf.1:exon6:c.A1790G:p.H597R, ENSG00000123473:ENST00000337817:exon16:c.A2951G:p.H984R,ENSG00000123473:ENST00000360380:exon17:c.A2951G:p.H984R,ENSG00000123473:ENST00000396221:exon16:c.A2900G:p.H967R,ENSG00000123473:ENST00000371877:exon16:c.A2954G:p.H985R,ENSG00000123473:ENST00000243182:exon16:c.A2951G:p.H984R, Het;T>C 1655;69|77 Hom;T>C 4258;2|164 N N - 1 53535478 53535478 G A snp nonsynonymous SNV G38A R13H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) PODN Podn ENSG00000174348 podocan chr1:53527854-53551174 The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016] Type 2 Diabetes| edema | rosiglitazone GO:0006469;negative regulation of protein kinase activity;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030336;negative regulation of cell migration;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA GO:0004860;protein kinase inhibitor activity;IBA|GO:0005518;collagen binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PODN https://www.ncbi.nlm.nih.gov/omim/?term=608661 http://www.informatics.jax.org/searchtool/Search.do?query=PODN&submit=Quick%0D%13510ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PODN rs1288386 0.357428 0.3408 0.5010 0.09 1 11 exonic exonic exonic PODN PODN ENSG00000174348 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV PODN:NM_001199080:exon4:c.G38A:p.R13H,PODN:NM_001199082:exon2:c.G95A:p.R32H,PODN:NM_001199081:exon3:c.G38A:p.R13H,PODN:NM_153703:exon2:c.G95A:p.R32H, PODN:uc001cuw.3:exon4:c.G38A:p.R13H,PODN:uc010ons.2:exon2:c.G95A:p.R32H,PODN:uc010onr.2:exon3:c.G38A:p.R13H,PODN:uc001cuv.3:exon2:c.G95A:p.R32H, ENSG00000174348:ENST00000371500:exon4:c.G38A:p.R13H,ENSG00000174348:ENST00000395871:exon2:c.G95A:p.R32H,ENSG00000174348:ENST00000312553:exon2:c.G95A:p.R32H, Het;G>A 463;17|23 Hom;G>A 1182;0|45 N N - 1 53544597 53544597 T C snp nonsynonymous SNV T1502C V501A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PODN Podn ENSG00000174348 podocan chr1:53527854-53551174 The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016] Type 2 Diabetes| edema | rosiglitazone GO:0006469;negative regulation of protein kinase activity;IBA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0030336;negative regulation of cell migration;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA GO:0004860;protein kinase inhibitor activity;IBA|GO:0005518;collagen binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PODN https://www.ncbi.nlm.nih.gov/omim/?term=608661 http://www.informatics.jax.org/searchtool/Search.do?query=PODN&submit=Quick%0D%13510ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PODN rs1288389 0.560903 0.7460 0.7717 0.23 3 13 exonic exonic exonic PODN PODN ENSG00000174348 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV PODN:NM_001199080:exon10:c.T1502C:p.V501A,PODN:NM_001199082:exon4:c.T1133C:p.V378A,PODN:NM_001199081:exon9:c.T1502C:p.V501A,PODN:NM_153703:exon8:c.T1559C:p.V520A, PODN:uc001cuw.3:exon10:c.T1502C:p.V501A,PODN:uc010ons.2:exon4:c.T1133C:p.V378A,PODN:uc010onr.2:exon9:c.T1502C:p.V501A,PODN:uc001cuv.3:exon8:c.T1559C:p.V520A, ENSG00000174348:ENST00000371500:exon10:c.T1502C:p.V501A,ENSG00000174348:ENST00000395871:exon4:c.T1133C:p.V378A,ENSG00000174348:ENST00000312553:exon8:c.T1559C:p.V520A, Het;T>C 587;26|26 Hom;T>C 1913;0|67 N N - 1 53553754 53553754 T C snp nonsynonymous SNV A1787G Q596R polar,hydrophilic,neutral polar,hydrophilic,charged(+) SLC1A7 Slc1a7 ENSG00000162383 solute carrier family 1 member 7 chr1:53552855-53608289 Type 2 Diabetes| edema | rosiglitazone; Lupus Erythematosus, Systemic; Hyperparathyroidism, Secondary; several psychiatric disorders; Amyotrophic Lateral Sclerosis Transport of inorganic cations/anions and amino acids/oligopeptides GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006835;dicarboxylic acid transport;TAS|GO:0014047;glutamate secretion;TAS|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005313;L-glutamate transmembrane transporter activity;TAS|GO:0005314;high-affinity glutamate transmembrane transporter activity;TAS|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC1A7 https://www.ncbi.nlm.nih.gov/omim/?term=604471 http://www.informatics.jax.org/searchtool/Search.do?query=SLC1A7&submit=Quick%0D%10686ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC1A7 rs1288401 0.410144 0.5706 0.5929 0.31 4 13 exonic exonic exonic SLC1A7 SLC1A7 ENSG00000162383 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV SLC1A7:NM_001287595:exon11:c.A1787G:p.Q596R,SLC1A7:NM_006671:exon11:c.A1610G:p.Q537R, SLC1A7:uc021onn.1:exon11:c.A1787G:p.Q596R,SLC1A7:uc001cux.3:exon3:c.A569G:p.Q190R,SLC1A7:uc001cuy.3:exon11:c.A1610G:p.Q537R, ENSG00000162383:ENST00000371494:exon11:c.A1610G:p.Q537R, Het;T>C 1569;68|69 Hom;T>C 2915;1|101 N N - 1 54606804 54606804 C T snp nonsynonymous SNV G730A G244R aliphatic,neutral polar,hydrophilic,charged(+) CDCP2 Cdcp2 ENSG00000157211 CUB domain containing protein 2 chr1:54598747-54619443 Parkinson Disease; Parkinson's disease GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDCP2 https://www.ncbi.nlm.nih.gov/omim/?term=612320 http://www.informatics.jax.org/searchtool/Search.do?query=CDCP2&submit=Quick%0D%10068ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDCP2 rs3766465 0.824081 0.8248 0.8286 0.46 6 13 exonic exonic exonic CDCP2 CDCP2 ENSG00000157211 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CDCP2:NM_201546:exon3:c.G730A:p.G244R, CDCP2:uc001cwv.2:exon3:c.G730A:p.G244R, ENSG00000157211:ENST00000371330:exon3:c.G730A:p.G244R, Het;C>T 1491;71|64 Hom;C>T 3713;0|133 N N - 1 5935162 5935162 A T snp splicing 1279-2T>A NPHP4 Nphp4 ENSG00000131697 nephrocystin 4 chr1:5922871-6052533 This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] kidney disease; QT interval; Tobacco Use Disorder Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia. Anchoring of the basal body to the plasma membrane GO:0007165;signal transduction;NAS|GO:0007632;visual behavior;NAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030036;actin cytoskeleton organization;NAS|GO:0030317;flagellated sperm motility;IEA|GO:0035329;hippo signaling;TAS|GO:0035845;photoreceptor cell outer segment organization;IEA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:0097711;ciliary basal body docking;TAS|GO:1903348;positive regulation of bicellular tight junction assembly;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IC|GO:0030054;cell junction;IEA|GO:0032391;photoreceptor connecting cilium;IEA|GO:0035869;ciliary transition zone;IEA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0097470;ribbon synapse;IEA|GO:0097546;ciliary base;IEA|GO:0097730;non-motile cilium;IEA GO:0005198;structural molecule activity;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NPHP4 https://www.uniprot.org/uniprot/O75161 https://hpo.jax.org/app/browse/search?q=NPHP4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607215 http://www.informatics.jax.org/searchtool/Search.do?query=NPHP4&submit=Quick%0D%6571ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NPHP4 rs1287637 0.843251 0.8431 0.8362 1 0 0 splicing splicing splicing NPHP4(NM_001291593:exon18:c.1279-2T>A,NM_001291594:exon17:c.1282-2T>A,NM_015102:exon21:c.2818-2T>A) NPHP4(uc001alq.2:exon21:c.2818-2T>A) ENSG00000131697(ENST00000489180:exon24:c.3365-2T>A,ENST00000378156:exon21:c.2818-2T>A,ENST00000378169:exon18:c.2508-2T>A) Na Na Na Na Na Na Het;A>T 661;43|31 Hom;A>T 1551;1|60 N N - 1 6184092 6184092 A G snp nonsynonymous SNV T4615C S1539P polar,hydrophilic,neutral hydrophobic,neutral CHD5 Chd5 ENSG00000116254 chromodomain helicase DNA binding protein 5 chr1:6161853-6240183 This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012] ovarian cancer Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CHD5 https://www.uniprot.org/uniprot/Q8TDI0 https://www.ncbi.nlm.nih.gov/omim/?term=610771 http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5 rs2843493 0.727636 0.5880 0.6570 0.23 3 13 exonic exonic exonic CHD5 CHD5 ENSG00000116254 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CHD5:NM_015557:exon31:c.T4615C:p.S1539P, CHD5:uc001alz.2:exon11:c.T1186C:p.S396P,CHD5:uc001amb.2:exon31:c.T4615C:p.S1539P, ENSG00000116254:ENST00000262450:exon31:c.T4615C:p.S1539P,ENSG00000116254:ENST00000378021:exon31:c.T1186C:p.S396P, Het;A>G 1462;104|70 Hom;A>G 3569;0|131 N N - 1 6190215 6190215 C T snp nonsynonymous SNV G283A G95S aliphatic,neutral polar,hydrophilic,neutral CHD5 Chd5 ENSG00000116254 chromodomain helicase DNA binding protein 5 chr1:6161853-6240183 This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012] ovarian cancer Mice homozygous for a knock-out allele exhibit male infertility with abnormal spermiogenesis and chromatin condensation. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;ISS|GO:0016569;covalent chromatin modification;IEA|GO:0021895;cerebral cortex neuron differentiation;ISS|GO:0030154;cell differentiation;IEA|GO:0035093;spermatogenesis, exchange of chromosomal proteins;ISS|GO:0043967;histone H4 acetylation;ISS|GO:0060850;regulation of transcription involved in cell fate commitment;IMP|GO:0098532;histone H3-K27 trimethylation;IMP|GO:1901798;positive regulation of signal transduction by p53 class mediator;ISS GO:0000792;heterochromatin;ISS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016581;NuRD complex;ISS|GO:0016607;nuclear speck;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016818;hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides;IEA|GO:0046872;metal ion binding;IEA|GO:0061628;H3K27me3 modified histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CHD5 https://www.uniprot.org/uniprot/Q8TDI0 https://www.ncbi.nlm.nih.gov/omim/?term=610771 http://www.informatics.jax.org/searchtool/Search.do?query=CHD5&submit=Quick%0D%4729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD5 rs9434662 0.283946 0.1738 0.2335 1 0 0 intronic UTR5 exonic CHD5 CHD5(uc001alz.2:c.-1128G>A) ENSG00000116254 Na Na nonsynonymous SNV Na Na ENSG00000116254:ENST00000377999:exon2:c.G283A:p.G95S, Het;C>T 385;33|18 Hom;C>T 1565;0|56 N N - 1 62732421 62732421 T C snp nonsynonymous SNV A2302G T768A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral KANK4 Kank4 ENSG00000132854 KN motif and ankyrin repeat domains 4 chr1:62702651-62785085 Waist Circumference; Tunica Media GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0015630;microtubule cytoskeleton;IDA http://www.genecards.org/index.php?path=/Search/keyword/KANK4 https://www.uniprot.org/uniprot/Q5T7N3 https://www.ncbi.nlm.nih.gov/omim/?term=614612 http://www.informatics.jax.org/searchtool/Search.do?query=KANK4&submit=Quick%0D%6755ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KANK4 rs11207949 0.305511 0.2374 0.2850 0.31 4 13 exonic exonic exonic KANK4 KANK4 ENSG00000132854 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV KANK4:NM_181712:exon6:c.A2302G:p.T768A, KANK4:uc001dah.4:exon6:c.A2302G:p.T768A,KANK4:uc001dai.4:exon5:c.A418G:p.T140A,KANK4:uc001dag.4:exon3:c.A370G:p.T124A, ENSG00000132854:ENST00000371150:exon3:c.A370G:p.T124A,ENSG00000132854:ENST00000371153:exon6:c.A2302G:p.T768A,ENSG00000132854:ENST00000354381:exon5:c.A418G:p.T140A, Het;T>C 1199;37|53 Hom;T>C 2246;0|85 N N - 1 75065441 75065441 C T snp nonsynonymous SNV G1664A R555H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) ERICH3 Erich3 rs696698 0.0976438 0.0584 0.0639 0.00 0 12 exonic exonic exonic ERICH3 C1orf173 ENSG00000178965 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV ERICH3:NM_001002912:exon11:c.G1664A:p.R555H, C1orf173:uc001dgg.3:exon11:c.G1664A:p.R555H,C1orf173:uc001dgi.4:exon6:c.G1046A:p.R349H, ENSG00000178965:ENST00000326665:exon11:c.G1664A:p.R555H,ENSG00000178965:ENST00000420661:exon6:c.G1073A:p.R358H, Het;C>T 1193;106|65 Hom;C>T 3695;4|141 N N - 1 75088911 75088911 A G snp nonsynonymous SNV T287C L96P aliphatic,hydrophobic,neutral hydrophobic,neutral ERICH3 Erich3 rs1417586 0.173522 0 0.375 1 0 0 ncRNA_exonic ncRNA_exonic exonic ERICH3-AS1 CR627203 ENSG00000178965 Na Na nonsynonymous SNV Na Na ENSG00000178965:ENST00000479666:exon3:c.T287C:p.L96P, Het;A>G 2137;87|94 Hom;A>G 4535;0|154 N N - 1 762273 762273 G A snp nonsynonymous SNV C299T P100L hydrophobic,neutral aliphatic,hydrophobic,neutral LINC00115 rs3115849 0.731829 0 0.8060 1 0 0 ncRNA_exonic exonic ncRNA_exonic LINC00115 LINC00115 ENSG00000225880 Na nonsynonymous SNV Na Na LINC00115:uc010nxx.2:exon1:c.C299T:p.P100L, Na Het;G>A 918;88|45 Hom;G>A 2800;0|100 N N - 1 76269460 76269460 G A snp nonsynonymous SNV G289A A97T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral MSH4 Msh4 ENSG00000057468 mutS homolog 4 chr1:76262567-76378923 This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011] Ovarian Failure, Premature; Chronic renal failure|Kidney Failure, Chronic; Azoospermia|Oligospermia; epithelial ovarian cancer Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis. Meiotic recombination GO:0001541;ovarian follicle development;IEA|GO:0006298;mismatch repair;IEA|GO:0007129;synapsis;IEA|GO:0007131;reciprocal meiotic recombination;TAS|GO:0007283;spermatogenesis;IEA|GO:0007292;female gamete generation;IEA|GO:0051321;meiotic cell cycle;IEA GO:0000793;condensed chromosome;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;IEA|GO:0005634;nucleus;TAS|GO:0005713;recombination nodule;IEA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0030983;mismatched DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MSH4 https://www.uniprot.org/uniprot/O15457 https://www.ncbi.nlm.nih.gov/omim/?term=602105 http://www.informatics.jax.org/searchtool/Search.do?query=MSH4&submit=Quick%0D%1019ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MSH4 rs5745325 0.212859 0.2996 0.2634 0.15 2 13 exonic exonic exonic MSH4 MSH4 ENSG00000057468 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV MSH4:NM_002440:exon2:c.G289A:p.A97T, MSH4:uc001dhd.2:exon2:c.G289A:p.A97T, ENSG00000057468:ENST00000263187:exon2:c.G289A:p.A97T, Het;G>A 1065;36|48 Hom;G>A 2694;0|97 N N - 1 85009894 85009894 A G snp nonsynonymous SNV A793G K265E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) SPATA1 Spata1 ENSG00000122432 spermatogenesis associated 1 chr1:84971974-85031877 Chronic renal failure|Kidney Failure, Chronic http://www.genecards.org/index.php?path=/Search/keyword/SPATA1 https://www.uniprot.org/uniprot/A0A1W2PQB0 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA1&submit=Quick%0D%5411ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA1 rs12143652 0.235823 0.2319 0.3230 1 0 0 intergenic exonic ncRNA_exonic GNG5(dist=37632),CTBS(dist=8910) SPATA1 ENSG00000122432 Na nonsynonymous SNV Na Na SPATA1:uc021opb.1:exon9:c.A793G:p.K265E, Na Het;A>G 67;25|7 Hom;A>G 1036;0|39 N N - 1 85029077 85029077 C T snp nonsynonymous SNV G820A V274I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CTBS Ctbs ENSG00000117151 chitobiase chr1:85015289-85040163 Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010] Mice homozygous for a knock-out allele exhibit accumulation of oligosaccharides. GO:0005975;carbohydrate metabolic process;IEA|GO:0006032;chitin catabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;IEA GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0070062;extracellular exosome;IDA GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004568;chitinase activity;IEA|GO:0008061;chitin binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTBS https://www.uniprot.org/uniprot/Q01459 https://www.ncbi.nlm.nih.gov/omim/?term=600873 http://www.informatics.jax.org/searchtool/Search.do?query=CTBS&submit=Quick%0D%4843ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTBS rs15911 0.148163 0.1872 0.1973 0.38 5 13 exonic exonic exonic CTBS CTBS ENSG00000117151 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CTBS:NM_004388:exon6:c.G820A:p.V274I, CTBS:uc001dka.2:exon6:c.G820A:p.V274I,CTBS:uc001dkc.3:exon6:c.G547A:p.V183I,CTBS:uc001dkb.2:exon5:c.G202A:p.V68I, ENSG00000117151:ENST00000370630:exon6:c.G820A:p.V274I, Het;C>T 991;60|47 Hom;C>T 2497;0|94 N N - 1 86952324 86952324 A G snp nonsynonymous SNV A1070G N357S polar,hydrophilic,neutral polar,hydrophilic,neutral CLCA1 Clca1 ENSG00000016490 chloride channel accessory 1 chr1:86934051-86965972 This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008] Cystic Fibrosis|Ileus; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; kidney aging; Waist Circumference; Meningeal Neoplasms|meningioma; asthma; Respiratory Function Tests Mice homozygous for a null allele exhibit an exacerbated mucin response. Stimuli-sensing channels GO:0006508;proteolysis;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0071456;cellular response to hypoxia;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;IEA|GO:0042589;zymogen granule membrane;IEA GO:0004222;metalloendopeptidase activity;TAS|GO:0005229;intracellular calcium activated chloride channel activity;IEA|GO:0005254;chloride channel activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCA1 https://www.uniprot.org/uniprot/A8K7I4 https://www.ncbi.nlm.nih.gov/omim/?term=603906 http://www.informatics.jax.org/searchtool/Search.do?query=CLCA1&submit=Quick%0D%629ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCA1 rs2734705 0.886981 0.8691 0.8629 0.15 2 13 exonic exonic exonic CLCA1 CLCA1 ENSG00000016490 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CLCA1:NM_001285:exon7:c.A1070G:p.N357S, CLCA1:uc001dls.1:exon7:c.A887G:p.N296S,CLCA1:uc001dlt.3:exon7:c.A1070G:p.N357S, ENSG00000016490:ENST00000394711:exon7:c.A1070G:p.N357S,ENSG00000016490:ENST00000234701:exon8:c.A1070G:p.N357S, Het;A>G 1007;61|46 Hom;A>G 1814;0|67 N N - 1 86959173 86959173 T C snp nonsynonymous SNV T1571C M524T hydrophobic,neutral polar,hydrophilic,neutral CLCA1 Clca1 ENSG00000016490 chloride channel accessory 1 chr1:86934051-86965972 This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008] Cystic Fibrosis|Ileus; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; kidney aging; Waist Circumference; Meningeal Neoplasms|meningioma; asthma; Respiratory Function Tests Mice homozygous for a null allele exhibit an exacerbated mucin response. Stimuli-sensing channels GO:0006508;proteolysis;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0071456;cellular response to hypoxia;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005902;microvillus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;IEA|GO:0042589;zymogen granule membrane;IEA GO:0004222;metalloendopeptidase activity;TAS|GO:0005229;intracellular calcium activated chloride channel activity;IEA|GO:0005254;chloride channel activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCA1 https://www.uniprot.org/uniprot/A8K7I4 https://www.ncbi.nlm.nih.gov/omim/?term=603906 http://www.informatics.jax.org/searchtool/Search.do?query=CLCA1&submit=Quick%0D%629ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCA1 rs2791494 0.849641 0.8017 0.8419 0.08 1 13 exonic exonic exonic CLCA1 CLCA1 ENSG00000016490 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CLCA1:NM_001285:exon10:c.T1571C:p.M524T, CLCA1:uc001dls.1:exon10:c.T1388C:p.M463T,CLCA1:uc001dlt.3:exon10:c.T1571C:p.M524T, ENSG00000016490:ENST00000394711:exon10:c.T1571C:p.M524T,ENSG00000016490:ENST00000234701:exon11:c.T1571C:p.M524T, Het;T>C 1493;144|77 Hom;T>C 4960;0|180 N N - 1 92647223 92647223 A G snp nonsynonymous SNV A2669G N890S polar,hydrophilic,neutral polar,hydrophilic,neutral KIAA1107 A830010M20Rik ENSG00000069712 KIAA1107 chr1:92632542-92650280 http://www.genecards.org/index.php?path=/Search/keyword/KIAA1107 https://www.uniprot.org/uniprot/Q9UPP5 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1107&submit=Quick%0D%1326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1107 rs560389 0.83127 0.7511 0.7387 0.15 2 13 exonic exonic exonic KIAA1107 KIAA1107 ENSG00000069712 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV KIAA1107:NM_015237:exon8:c.A2669G:p.N890S, KIAA1107:uc010otd.2:exon8:c.A2669G:p.N890S,KIAA1107:uc001dop.3:exon6:c.A2444G:p.N815S, ENSG00000069712:ENST00000370378:exon8:c.A2669G:p.N890S,ENSG00000069712:ENST00000409154:exon8:c.A2834G:p.N945S, Het;A>G 766;40|34 Hom;A>G 2072;0|72 N N - 1 92979331 92979331 A G snp nonsynonymous SNV T2315C V772A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral EVI5 Evi5 ENSG00000067208 ecotropic viral integration site 5 chr1:92974253-93257961 Multiple Sclerosis; Cholesterol; multiple sclerosis GO:0006886;intracellular protein transport;IBA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;TAS|GO:0008283;cell proliferation;TAS|GO:0031338;regulation of vesicle fusion;IBA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0051301;cell division;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0012505;endomembrane system;IBA GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EVI5 https://www.uniprot.org/uniprot/O60447 https://www.ncbi.nlm.nih.gov/omim/?term=602942 http://www.informatics.jax.org/searchtool/Search.do?query=EVI5&submit=Quick%0D%1248ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVI5 rs147173044 0 0.0011 0.0007 0.00 0 13 exonic exonic exonic EVI5 EVI5 ENSG00000067208 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV EVI5:NM_005665:exon18:c.T2315C:p.V772A, EVI5:uc001dox.3:exon18:c.T2315C:p.V772A,EVI5:uc010otf.2:exon19:c.T2348C:p.V783A, ENSG00000067208:ENST00000540033:exon18:c.T2315C:p.V772A,ENSG00000067208:ENST00000543509:exon19:c.T2348C:p.V783A,ENSG00000067208:ENST00000370331:exon18:c.T2315C:p.V772A, Het;A>G 1006;60|48 Hom;A>G 1577;2|59 N N - 1 93720070 93720070 C G snp nonsynonymous SNV C3241G L1081V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CCDC18 Ccdc18 ENSG00000122483 coiled-coil domain containing 18 chr1:93645476-93744287 http://www.genecards.org/index.php?path=/Search/keyword/CCDC18 https://www.uniprot.org/uniprot/Q5T9S5 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC18&submit=Quick%0D%5416ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC18 rs12030843 0.232228 0.1702 0.2110 0.46 6 13 exonic exonic exonic CCDC18 CCDC18 ENSG00000122483 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV CCDC18:NM_206886:exon24:c.C3241G:p.L1081V, CCDC18:uc021opx.1:exon24:c.C3241G:p.L1081V, ENSG00000122483:ENST00000401026:exon24:c.C3241G:p.L1081V,ENSG00000122483:ENST00000557479:exon24:c.C3595G:p.L1199V,ENSG00000122483:ENST00000343253:exon24:c.C3238G:p.L1080V, Het;C>G 249;12|13 Hom;C>G 600;0|21 N N - 1 94544234 94544234 T C snp nonsynonymous SNV A1268G H423R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ABCA4 Abca4 ENSG00000198691 ATP binding cassette subfamily A member 4 chr1:94458393-94586688 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008] Toxoplasmosis, Cerebral|Toxoplasmosis, Congenital|Toxoplasmosis, Ocular; cone-rod dystrophy macular dystrophy retinitis pigmentosa; Chronic renal failure|Kidney Failure, Chronic; Blind Vision|Blindness|Retinal Diseases; macular degeneration; Carcinoma, Squamous Cell|Esophageal Neoplasms; maculopathy; Macular Degeneration; Body Height; Late-onset Stargardt disease; Tunica Media; age-related maculopathy.; atherosclerosis; Eye Diseases, Hereditary|Macular Degeneration|Retinal Degeneration; Type 2 Diabetes| edema | rosiglitazone; drug-related genes ; cone-rod dystrophy; Retinal Diseases; Toxoplasmosis, Congenital; cone-rod dystrophy; retinitis pigmentosa; Retinitis Pigmentosa; Stargardt disease; Retinal Degeneration; Cleft Lip|Cleft Palate; Tobacco Use Disorder; Echocardiography; fibrin fragment D; Diabetes Mellitus, Type 2; Macular Degeneration|Vision, Low; macular degeneration; Stargardt disease; Coronary Artery Disease Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration. ABC-family proteins mediated transport GO:0001523;retinoid metabolic process;TAS|GO:0006649;phospholipid transfer to membrane;IEA|GO:0006810;transport;TAS|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;TAS|GO:0045332;phospholipid translocation;IDA|GO:0045494;photoreceptor cell maintenance;IEA|GO:0050896;response to stimulus;IEA|GO:0055085;transmembrane transport;TAS GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0097381;photoreceptor disc membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IEA|GO:0005215;transporter activity;TAS|GO:0005395;eye pigment precursor transporter activity;TAS|GO:0005524;ATP binding;TAS|GO:0005548;phospholipid transporter activity;IEA|GO:0016887;ATPase activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0090555;phosphatidylethanolamine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA4 https://hpo.jax.org/app/browse/search?q=ABCA4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601691 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA4&submit=Quick%0D%16963ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA4 rs3112831 0.220847 0.2606 0.2553 0.31 4 13 exonic exonic exonic ABCA4 ABCA4 ENSG00000198691 nonsynonymous SNV nonsynonymous SNV nonsynonymous SNV ABCA4:NM_000350:exon10:c.A1268G:p.H423R, ABCA4:uc010otn.1:exon10:c.A1268G:p.H423R,ABCA4:uc001dqh.3:exon10:c.A1268G:p.H423R, ENSG00000198691:ENST00000370225:exon10:c.A1268G:p.H423R,ENSG00000198691:ENST00000535735:exon10:c.A1268G:p.H423R, Het;T>C 453;38|27 Hom;T>C 1822;0|71 N N - 20 126310 126312 ACC A indel frameshift substitution 313_315A DEFB126 ENSG00000125788 defensin beta 126 chr20:123010-126392 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. [provided by RefSeq, Nov 2014] Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Meningeal Neoplasms|meningioma Defensins GO:0006952;defense response;IEA|GO:0007338;single fertilization;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/DEFB126 https://www.uniprot.org/uniprot/Q9BYW3 http://www.informatics.jax.org/searchtool/Search.do?query=DEFB126&submit=Quick%0D%5835ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB126 rs11467417 0 0.5662 0.5534 1 0 0 exonic exonic exonic DEFB126 DEFB126 ENSG00000125788 frameshift substitution frameshift substitution unknown DEFB126:NM_030931:exon2:c.313_315A, DEFB126:uc002wcx.3:exon2:c.313_315A, UNKNOWN Het;-CC 811;49|24 Hom;-CC 2226;0|51 N N - 20 18361603 18361603 T C snp nonsynonymous SNV T89C L30P aliphatic,hydrophobic,neutral hydrophobic,neutral LINC00851 rs1883938 0.796326 0 0.8419 1 0 0 ncRNA_exonic exonic ncRNA_exonic LINC00851 LINC00851 ENSG00000237282 Na nonsynonymous SNV Na Na LINC00851:uc021wbc.1:exon2:c.T89C:p.L30P, Na Het;T>C 813;45|38 Hom;T>C 2149;0|77 N N - 20 2290333 2290333 C A snp nonsynonymous SNV C38A T13K polar,hydrophilic,neutral polar,hydrophilic,charged(+) TGM3 Tgm3 ENSG00000125780 transglutaminase 3 chr20:2276647-2321724 Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; hair thickness Mice homozygous for an ENU or null mutation exhibit rough-looking, curly hair. Null mutants display delayed skin barrier formation, loss of vibrissae, and brittle hairs. GO:0006464;cellular protein modification process;NAS|GO:0018149;peptide cross-linking;IDA|GO:0030216;keratinocyte differentiation;IEP|GO:0031069;hair follicle morphogenesis;TAS|GO:0031424;keratinization;IEA|GO:0043163;cell envelope organization;IDA|GO:0051262;protein tetramerization;IDA GO:0005737;cytoplasm;IDA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IDA|GO:0003824;catalytic activity;IDA|GO:0005509;calcium ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGM3 https://www.uniprot.org/uniprot/Q08188 https://hpo.jax.org/app/browse/search?q=TGM3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600238 http://www.informatics.jax.org/searchtool/Search.do?query=TGM3&submit=Quick%0D%5833ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM3 rs214803 0.742612 0.7070 0.8102 0.23 3 13 exonic exonic exonic TGM3 TGM3 ENSG00000125780 nonsynonymous SNV nonsynonymous SNV unknown TGM3:NM_003245:exon2:c.C38A:p.T13K, TGM3:uc002wfx.4:exon2:c.C38A:p.T13K, UNKNOWN Het;C>A 421;26|19 Hom;C>A 1322;1|48 N N - 20 238435 238441 CTGGTCT C indel nonframeshift substitution 16_22C DEFB132 ENSG00000186458 defensin beta 132 chr20:238377-241737 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014] Defensins GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/DEFB132 http://www.informatics.jax.org/searchtool/Search.do?query=DEFB132&submit=Quick%0D%15646ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB132 rs371825938 0 0.6087 0.5892 1 0 0 exonic exonic exonic DEFB132 DEFB132 ENSG00000186458 nonframeshift substitution nonframeshift substitution unknown DEFB132:NM_207469:exon1:c.16_22C, DEFB132:uc002wdb.3:exon1:c.16_22C, UNKNOWN Het;-TGGTCT 2063;49|54 Hom;-TGGTCT 2598;2|61 N N - 20 256727 256727 T A snp nonsynonymous SNV A910T I304F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral C20orf96 6820408C15Rik ENSG00000196476 chromosome 20 open reading frame 96 chr20:251504-271390 GO:0008152;metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/C20orf96 http://www.informatics.jax.org/searchtool/Search.do?query=C20orf96&submit=Quick%0D%16379ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf96 rs3827147 0.635184 0.6545 0.6024 0.08 1 13 exonic exonic exonic C20orf96 C20orf96 ENSG00000196476 nonsynonymous SNV nonsynonymous SNV unknown C20orf96:NM_080571:exon10:c.A910T:p.I304F,C20orf96:NM_153269:exon10:c.A913T:p.I305F, C20orf96:uc010zpi.2:exon9:c.A754T:p.I252F,C20orf96:uc002wde.2:exon10:c.A913T:p.I305F,C20orf96:uc021vzl.1:exon10:c.A910T:p.I304F, UNKNOWN Het;T>A 425;25|22 Hom;T>A 1351;0|53 N N - 20 278687 278690 CCGG C indel nonframeshift substitution 460_463C ZCCHC3 Zcchc3 ENSG00000247315 zinc finger CCHC-type containing 3 chr20:277737-280965 Bipolar Disorder GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC3 http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC3&submit=Quick%0D%19874ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC3 rs11468351 0.865615 0 0.8900 1 0 0 exonic exonic exonic ZCCHC3 ZCCHC3 ENSG00000177764 nonframeshift substitution nonframeshift substitution unknown ZCCHC3:NM_033089:exon1:c.460_463C, ZCCHC3:uc002wdf.3:exon1:c.460_463C, UNKNOWN Het;-CGG 154;17|6 Hom;-CGG 1321;0|31 N N - 20 3675333 3675333 G A snp nonsynonymous SNV C2921T A974V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SIGLEC1 Siglec1 ENSG00000088827 sialic acid binding Ig like lectin 1 chr20:3667617-3687775 This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008] longevity Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels. Mice homozygous for a knock-out or knock-in allele exhibit impaired phagocytosis of sialylated C. jejuni. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;NAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIGLEC1 https://www.uniprot.org/uniprot/Q9BZZ2 https://www.ncbi.nlm.nih.gov/omim/?term=600751 http://www.informatics.jax.org/searchtool/Search.do?query=SIGLEC1&submit=Quick%0D%2015ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIGLEC1 rs3746638 0.584864 0.4875 0.5684 0.23 3 13 exonic exonic exonic SIGLEC1 SIGLEC1 ENSG00000088827 nonsynonymous SNV nonsynonymous SNV unknown SIGLEC1:NM_023068:exon11:c.C2921T:p.A974V, SIGLEC1:uc002wja.3:exon11:c.C2921T:p.A974V,SIGLEC1:uc002wiz.4:exon11:c.C2921T:p.A974V, UNKNOWN Het;G>A 962;42|48 Hom;G>A 2156;0|82 N N - 20 3675498 3675498 T G snp nonsynonymous SNV A2756C H919P aromatic,polar,hydrophilic,charged(+) hydrophobic,neutral SIGLEC1 Siglec1 ENSG00000088827 sialic acid binding Ig like lectin 1 chr20:3667617-3687775 This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008] longevity Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels. Mice homozygous for a knock-out or knock-in allele exhibit impaired phagocytosis of sialylated C. jejuni. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;NAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0016337;single organismal cell-cell adhesion;NAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SIGLEC1 https://www.uniprot.org/uniprot/Q9BZZ2 https://www.ncbi.nlm.nih.gov/omim/?term=600751 http://www.informatics.jax.org/searchtool/Search.do?query=SIGLEC1&submit=Quick%0D%2015ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SIGLEC1 rs709012 0.741414 0.6665 0.6838 0.23 3 13 exonic exonic exonic SIGLEC1 SIGLEC1 ENSG00000088827 nonsynonymous SNV nonsynonymous SNV unknown SIGLEC1:NM_023068:exon11:c.A2756C:p.H919P, SIGLEC1:uc002wja.3:exon11:c.A2756C:p.H919P,SIGLEC1:uc002wiz.4:exon11:c.A2756C:p.H919P, UNKNOWN Het;T>G 627;29|30 Hom;T>G 1871;0|71 N N - 20 44417675 44417675 G C snp nonsynonymous SNV C106G H36D aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) WFDC3 Wfdc3 ENSG00000124116 WAP four-disulfide core domain 3 chr20:44376583-44420571 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC3 https://www.uniprot.org/uniprot/Q8IUB2 http://www.informatics.jax.org/searchtool/Search.do?query=WFDC3&submit=Quick%0D%5591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC3 rs6032538 0.654553 0.6972 0.6887 0.08 1 13 exonic exonic exonic WFDC3 WFDC3 ENSG00000124116 nonsynonymous SNV nonsynonymous SNV unknown WFDC3:NM_080614:exon3:c.C106G:p.H36D, WFDC3:uc002xpf.1:exon3:c.C106G:p.H36D, UNKNOWN Het;G>C 544;48|32 Hom;G>C 1354;0|50 N N - 20 44596207 44596207 C G snp nonsynonymous SNV G881C S294T polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF335 Zfp335 ENSG00000198026 zinc finger protein 335 chr20:44577292-44600833 The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. Mice homozygous for a conditional allele activated in the brain exhibit loss of cortical neurons and decreased brain size. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0001701;in utero embryonic development;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;IMP|GO:0010468;regulation of gene expression;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0048812;neuron projection morphogenesis;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050671;positive regulation of lymphocyte proliferation;IMP|GO:0050767;regulation of neurogenesis;IEA|GO:0050769;positive regulation of neurogenesis;IMP|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0080182;histone H3-K4 trimethylation;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0035097;histone methyltransferase complex;IEA GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF335 https://hpo.jax.org/app/browse/search?q=ZNF335&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610827 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF335&submit=Quick%0D%16789ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF335 rs6032606 0.777756 0.9245 0.8493 0.23 3 13 exonic exonic exonic ZNF335 ZNF335 ENSG00000198026 nonsynonymous SNV nonsynonymous SNV unknown ZNF335:NM_022095:exon6:c.G881C:p.S294T, ZNF335:uc010zxk.2:exon3:c.G416C:p.S139T,ZNF335:uc002xqw.3:exon6:c.G881C:p.S294T,ZNF335:uc002xqy.3:exon2:c.G416C:p.S139T,ZNF335:uc002xqx.1:exon4:c.G785C:p.S262T, UNKNOWN Het;C>G 385;23|18 Hom;C>G 1469;2|51 N N - 20 50769379 50769379 C T snp nonsynonymous SNV G1346A S449N polar,hydrophilic,neutral polar,hydrophilic,neutral ZFP64 Zfp64 ENSG00000020256 ZFP64 zinc finger protein chr20:50668202-50820847 Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Erythrocyte Count; Amyotrophic lateral sclerosis GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFP64 https://www.uniprot.org/uniprot/Q9NPA5 http://www.informatics.jax.org/searchtool/Search.do?query=ZFP64&submit=Quick%0D%656ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP64 rs3746414 0.169329 0.1951 0.2181 0.15 2 13 exonic exonic exonic ZFP64 ZFP64 ENSG00000020256 nonsynonymous SNV nonsynonymous SNV unknown ZFP64:NM_199426:exon6:c.G1346A:p.S449N,ZFP64:NM_018197:exon6:c.G1352A:p.S451N,ZFP64:NM_022088:exon5:c.G1190A:p.S397N, ZFP64:uc002xwm.3:exon6:c.G1346A:p.S449N,ZFP64:uc002xwn.3:exon5:c.G1190A:p.S397N,ZFP64:uc002xwl.3:exon6:c.G1352A:p.S451N, UNKNOWN Het;C>T 2174;91|97 Hom;C>T 4937;0|174 N N - 20 56098733 56098733 T C snp nonsynonymous SNV A529G T177A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral CTCFL Ctcfl ENSG00000124092 CCCTC-binding factor like chr20:56071035-56100708 CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Silver-Russell Syndrome; breast cancer Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility. GO:0006349;regulation of gene expression by genetic imprinting;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007049;cell cycle;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051569;regulation of histone H3-K4 methylation;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTCFL https://www.uniprot.org/uniprot/Q8NI51 https://www.ncbi.nlm.nih.gov/omim/?term=607022 http://www.informatics.jax.org/searchtool/Search.do?query=CTCFL&submit=Quick%0D%5585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTCFL rs6025606 0.749002 0.7148 0.6630 0.08 1 13 exonic exonic exonic CTCFL CTCFL ENSG00000124092 nonsynonymous SNV nonsynonymous SNV unknown CTCFL:NM_001269051:exon2:c.A529G:p.T177A,CTCFL:NM_001269045:exon2:c.A529G:p.T177A,CTCFL:NM_001269046:exon2:c.A529G:p.T177A,CTCFL:NM_001269042:exon2:c.A529G:p.T177A,CTCFL:NM_001269048:exon1:c.A529G:p.T177A,CTCFL:NM_001269047:exon2:c.A529G:p.T177A,CTCFL:NM_001269041:exon1:c.A529G:p.T177A,CTCFL:NM_001269040:exon2:c.A529G:p.T177A,CTCFL:NM_080618:exon3:c.A529G:p.T177A,CTCFL:NM_001269044:exon1:c.A529G:p.T177A,CTCFL:NM_001269052:exon1:c.A529G:p.T177A,CTCFL:NM_001269043:exon2:c.A529G:p.T177A, CTCFL:uc031ruh.1:exon2:c.A529G:p.T177A,CTCFL:uc010gjl.2:exon2:c.A529G:p.T177A,CTCFL:uc010gjj.2:exon2:c.A529G:p.T177A,CTCFL:uc021wfe.1:exon1:c.A529G:p.T177A,CTCFL:uc010gje.3:exon1:c.A529G:p.T177A,CTCFL:uc010gjk.2:exon1:c.A529G:p.T177A,CTCFL:uc010gix.1:exon1:c.A529G:p.T177A,CTCFL:uc010gjd.1:exon3:c.A529G:p.T177A,CTCFL:uc010giw.1:exon2:c.A529G:p.T177A,CTCFL:uc010gjb.2:exon2:c.A529G:p.T177A,CTCFL:uc010gja.2:exon2:c.A529G:p.T177A,CTCFL:uc010gjc.1:exon2:c.A529G:p.T177A,CTCFL:uc031ruj.1:exon2:c.A529G:p.T177A,CTCFL:uc010gjh.2:exon1:c.A529G:p.T177A, UNKNOWN Het;T>C 1301;29|49 Hom;T>C 2222;1|77 N N - 20 56099114 56099114 C G snp nonsynonymous SNV G148C E50Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral CTCFL Ctcfl ENSG00000124092 CCCTC-binding factor like chr20:56071035-56100708 CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Silver-Russell Syndrome; breast cancer Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility. GO:0006349;regulation of gene expression by genetic imprinting;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007049;cell cycle;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0043046;DNA methylation involved in gamete generation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051569;regulation of histone H3-K4 methylation;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTCFL https://www.uniprot.org/uniprot/Q8NI51 https://www.ncbi.nlm.nih.gov/omim/?term=607022 http://www.informatics.jax.org/searchtool/Search.do?query=CTCFL&submit=Quick%0D%5585ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTCFL rs6070128 0.285144 0.3135 0.3644 0.08 1 13 exonic exonic exonic CTCFL CTCFL ENSG00000124092 nonsynonymous SNV nonsynonymous SNV unknown CTCFL:NM_001269051:exon2:c.G148C:p.E50Q,CTCFL:NM_001269045:exon2:c.G148C:p.E50Q,CTCFL:NM_001269046:exon2:c.G148C:p.E50Q,CTCFL:NM_001269042:exon2:c.G148C:p.E50Q,CTCFL:NM_001269048:exon1:c.G148C:p.E50Q,CTCFL:NM_001269047:exon2:c.G148C:p.E50Q,CTCFL:NM_001269041:exon1:c.G148C:p.E50Q,CTCFL:NM_001269040:exon2:c.G148C:p.E50Q,CTCFL:NM_080618:exon3:c.G148C:p.E50Q,CTCFL:NM_001269044:exon1:c.G148C:p.E50Q,CTCFL:NM_001269052:exon1:c.G148C:p.E50Q,CTCFL:NM_001269043:exon2:c.G148C:p.E50Q, CTCFL:uc031ruh.1:exon2:c.G148C:p.E50Q,CTCFL:uc010gjl.2:exon2:c.G148C:p.E50Q,CTCFL:uc010gjj.2:exon2:c.G148C:p.E50Q,CTCFL:uc021wfe.1:exon1:c.G148C:p.E50Q,CTCFL:uc010gje.3:exon1:c.G148C:p.E50Q,CTCFL:uc010gjk.2:exon1:c.G148C:p.E50Q,CTCFL:uc010gix.1:exon1:c.G148C:p.E50Q,CTCFL:uc010gjd.1:exon3:c.G148C:p.E50Q,CTCFL:uc010giw.1:exon2:c.G148C:p.E50Q,CTCFL:uc010gjb.2:exon2:c.G148C:p.E50Q,CTCFL:uc010gja.2:exon2:c.G148C:p.E50Q,CTCFL:uc010gjc.1:exon2:c.G148C:p.E50Q,CTCFL:uc031ruj.1:exon2:c.G148C:p.E50Q,CTCFL:uc010gjh.2:exon1:c.G148C:p.E50Q, UNKNOWN Het;C>G 1347;94|64 Hom;C>G 4022;0|143 N N - 20 56190634 56190634 C T snp nonsynonymous SNV G262A E88K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) ZBP1 Zbp1 ENSG00000124256 Z-DNA binding protein 1 chr20:56178902-56195632 This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] hippocampal atrophy; Body Fat Distribution; Hippocampus; Coronary Disease Mice homozygous for a knock-out allele display normal innate immune activation by double-stranded B-form DNA (B-DNA) as well as normal adaptive immune responses to DNA vaccination. Regulation of innate immune responses to cytosolic DNA GO:0002376;immune system process;IEA|GO:0008150;biological_process;ND|GO:0032479;regulation of type I interferon production;TAS|GO:0032481;positive regulation of type I interferon production;TAS|GO:0045087;innate immune response;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0003677;DNA binding;IDA|GO:0003692;left-handed Z-DNA binding;NAS|GO:0003723;RNA binding;IEA|GO:0003726;double-stranded RNA adenosine deaminase activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ZBP1 https://www.uniprot.org/uniprot/Q9H171 https://www.ncbi.nlm.nih.gov/omim/?term=606750 http://www.informatics.jax.org/searchtool/Search.do?query=ZBP1&submit=Quick%0D%5636ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBP1 rs2073145 0.604633 0.5581 0.6861 0.08 1 13 exonic exonic exonic ZBP1 ZBP1 ENSG00000124256 nonsynonymous SNV nonsynonymous SNV unknown ZBP1:NM_001160419:exon3:c.G262A:p.E88K,ZBP1:NM_001160418:exon2:c.G37A:p.E13K,ZBP1:NM_030776:exon3:c.G262A:p.E88K,ZBP1:NM_001160417:exon3:c.G262A:p.E88K, ZBP1:uc002xyp.3:exon2:c.G37A:p.E13K,ZBP1:uc010zzn.2:exon3:c.G262A:p.E88K,ZBP1:uc010gjm.3:exon3:c.G262A:p.E88K,ZBP1:uc002xyo.3:exon3:c.G262A:p.E88K, UNKNOWN Het;C>T 584;32|31 Hom;C>T 1260;0|50 N N - 20 56821127 56821127 A G snp nonsynonymous SNV T1135C C379R polar,hydrophobic,neutral polar,hydrophilic,charged(+) PPP4R1L rs3746405 0.421526 0 0.3951 1 0 0 ncRNA_exonic exonic exonic PPP4R1L PPP4R1L ENSG00000124224 Na nonsynonymous SNV unknown Na PPP4R1L:uc002xyy.1:exon10:c.T1135C:p.C379R, UNKNOWN Het;A>G 1226;71|58 Hom;A>G 4165;2|152 N N - 20 57597970 57597970 A C snp nonsynonymous SNV A128C Q43P polar,hydrophilic,neutral hydrophobic,neutral TUBB1 Tubb1 ENSG00000101162 tubulin beta 1 class VI chr20:57594309-57601709 This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010] Acute Coronary Syndrome|Myocardial Infarction; Hemorrhagic Disorders; cardiovascular disease Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets. The platelets that are produced have structural and functional defects. Kinesins GO:0007017;microtubule-based process;IEA|GO:0051225;spindle assembly;IEA GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TUBB1 https://www.uniprot.org/uniprot/Q9H4B7 https://hpo.jax.org/app/browse/search?q=TUBB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612901 http://www.informatics.jax.org/searchtool/Search.do?query=TUBB1&submit=Quick%0D%2665ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB1 rs463312 0.0842652 0.0398 0.0771 0.77 10 13 exonic exonic exonic TUBB1 TUBB1 ENSG00000101162 nonsynonymous SNV nonsynonymous SNV unknown TUBB1:NM_030773:exon2:c.A128C:p.Q43P, TUBB1:uc002yak.3:exon2:c.A128C:p.Q43P, UNKNOWN Het;A>C 2091;105|58 Hom;A>C 5369;5|126 N N - 20 57597971 57597971 G C snp nonsynonymous SNV G129C Q43H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) TUBB1 Tubb1 ENSG00000101162 tubulin beta 1 class VI chr20:57594309-57601709 This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010] Acute Coronary Syndrome|Myocardial Infarction; Hemorrhagic Disorders; cardiovascular disease Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets. The platelets that are produced have structural and functional defects. Kinesins GO:0007017;microtubule-based process;IEA|GO:0051225;spindle assembly;IEA GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TUBB1 https://www.uniprot.org/uniprot/Q9H4B7 https://hpo.jax.org/app/browse/search?q=TUBB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612901 http://www.informatics.jax.org/searchtool/Search.do?query=TUBB1&submit=Quick%0D%2665ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB1 rs415064 0.0842652 0.0400 0.0770 0.69 9 13 exonic exonic exonic TUBB1 TUBB1 ENSG00000101162 nonsynonymous SNV nonsynonymous SNV unknown TUBB1:NM_030773:exon2:c.G129C:p.Q43H, TUBB1:uc002yak.3:exon2:c.G129C:p.Q43H, UNKNOWN Het;G>C 2042;103|58 Hom;G>C 5369;5|125 N N - 20 60900481 60900481 A G snp nonsynonymous SNV T5420C F1807S aromatic,hydrophobic,neutral polar,hydrophilic,neutral LAMA5 Lama5 ENSG00000130702 laminin subunit alpha 5 chr20:60883011-60942368 This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013] Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation. MET activates PTK2 signaling GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC http://www.genecards.org/index.php?path=/Search/keyword/LAMA5 https://www.uniprot.org/uniprot/O15230 https://www.ncbi.nlm.nih.gov/omim/?term=601033 http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5 rs2427284 0.89397 0.9156 0.9185 0.23 3 13 exonic exonic exonic LAMA5 LAMA5 ENSG00000130702 nonsynonymous SNV nonsynonymous SNV unknown LAMA5:NM_005560:exon41:c.T5420C:p.F1807S, LAMA5:uc021wfw.1:exon41:c.T5420C:p.F1807S,LAMA5:uc002ycq.3:exon41:c.T5420C:p.F1807S, UNKNOWN Het;A>G 825;50|41 Hom;A>G 2308;0|84 N N - 20 60904853 60904853 T C snp nonsynonymous SNV A4099G K1367E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) LAMA5 Lama5 ENSG00000130702 laminin subunit alpha 5 chr20:60883011-60942368 This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013] Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation. MET activates PTK2 signaling GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC http://www.genecards.org/index.php?path=/Search/keyword/LAMA5 https://www.uniprot.org/uniprot/O15230 https://www.ncbi.nlm.nih.gov/omim/?term=601033 http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5 rs2427286 0.908746 0.9306 0.9227 0.23 3 13 exonic exonic exonic LAMA5 LAMA5 ENSG00000130702 nonsynonymous SNV nonsynonymous SNV unknown LAMA5:NM_005560:exon32:c.A4099G:p.K1367E, LAMA5:uc021wfw.1:exon32:c.A4099G:p.K1367E,LAMA5:uc002ycq.3:exon32:c.A4099G:p.K1367E, UNKNOWN Het;T>C 1214;64|57 Hom;T>C 2748;0|100 N N - 20 60905878 60905878 A G snp nonsynonymous SNV T3773C M1258T hydrophobic,neutral polar,hydrophilic,neutral LAMA5 Lama5 ENSG00000130702 laminin subunit alpha 5 chr20:60883011-60942368 This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013] Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation. MET activates PTK2 signaling GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC http://www.genecards.org/index.php?path=/Search/keyword/LAMA5 https://www.uniprot.org/uniprot/O15230 https://www.ncbi.nlm.nih.gov/omim/?term=601033 http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5 rs3810548 0.756589 0.8066 0.8510 0.08 1 13 exonic exonic exonic LAMA5 LAMA5 ENSG00000130702 nonsynonymous SNV nonsynonymous SNV unknown LAMA5:NM_005560:exon30:c.T3773C:p.M1258T, LAMA5:uc021wfw.1:exon30:c.T3773C:p.M1258T,LAMA5:uc002ycq.3:exon30:c.T3773C:p.M1258T, UNKNOWN Het;A>G 1388;53|66 Hom;A>G 2748;0|100 N N - 20 60908969 60908969 T C snp nonsynonymous SNV A2866G T956A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral LAMA5 Lama5 ENSG00000130702 laminin subunit alpha 5 chr20:60883011-60942368 This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013] Type 2 Diabetes| edema | rosiglitazone; Colorectal Neoplasms Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation. MET activates PTK2 signaling GO:0001525;angiogenesis;NAS|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001738;morphogenesis of a polarized epithelium;IEA|GO:0001755;neural crest cell migration;IEA|GO:0001942;hair follicle development;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0007155;cell adhesion;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007517;muscle organ development;IEA|GO:0008037;cell recognition;NAS|GO:0008283;cell proliferation;NAS|GO:0009790;embryo development;NAS|GO:0009887;animal organ morphogenesis;IEA|GO:0016331;morphogenesis of embryonic epithelium;IEA|GO:0016477;cell migration;IDA|GO:0030154;cell differentiation;NAS|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030324;lung development;IEA|GO:0030334;regulation of cell migration;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IDA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0045446;endothelial cell differentiation;NAS|GO:0045995;regulation of embryonic development;IEA|GO:0048041;focal adhesion assembly;NAS|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0060271;cilium assembly;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0090002;establishment of protein localization to plasma membrane;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005605;basal lamina;NAS|GO:0005610;laminin-5 complex;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0031012;extracellular matrix;IDA|GO:0043083;synaptic cleft;IEA|GO:0043259;laminin-10 complex;TAS|GO:0043260;laminin-11 complex;TAS|GO:0070062;extracellular exosome;IDA GO:0005102;receptor binding;IEA|GO:0005178;integrin binding;IDA|GO:0005198;structural molecule activity;IC http://www.genecards.org/index.php?path=/Search/keyword/LAMA5 https://www.uniprot.org/uniprot/O15230 https://www.ncbi.nlm.nih.gov/omim/?term=601033 http://www.informatics.jax.org/searchtool/Search.do?query=LAMA5&submit=Quick%0D%6415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMA5 rs13042941 0.721246 0.7479 0.8464 0.15 2 13 exonic exonic exonic LAMA5 LAMA5 ENSG00000130702 nonsynonymous SNV nonsynonymous SNV unknown LAMA5:NM_005560:exon23:c.A2866G:p.T956A, LAMA5:uc021wfw.1:exon23:c.A2866G:p.T956A,LAMA5:uc002ycq.3:exon23:c.A2866G:p.T956A, UNKNOWN Het;T>C 1337;56|37 Hom;T>C 3640;0|87 N N - 20 61143487 61143487 T C snp nonsynonymous SNV A361G I121V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C20orf166-AS1 rs3934574 0.551518 0.5328 0.5605 1 0 0 ncRNA_exonic exonic ncRNA_exonic C20orf166-AS1 C20orf166-AS1 ENSG00000174403 Na nonsynonymous SNV Na Na C20orf166-AS1:uc021wfy.2:exon1:c.A361G:p.I121V, Na Het;T>C 2515;128|117 Hom;T>C 5027;2|178 N N - 20 61143945 61143945 T G snp nonsynonymous SNV A275C Q92P polar,hydrophilic,neutral hydrophobic,neutral C20orf166-AS1 rs3934573 0.497204 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic C20orf166-AS1 C20orf166-AS1 ENSG00000174403 Na nonsynonymous SNV Na Na C20orf166-AS1:uc002ycz.3:exon3:c.A275C:p.Q92P, Na Het;T>G 1400;77|65 Hom;T>G 4392;0|117 N N - 20 62194030 62194030 G C snp nonsynonymous SNV C6145G Q2049E polar,hydrophilic,neutral polar,hydrophilic,charged(-) HELZ2 Helz2 ENSG00000130589 helicase with zinc finger 2 chr20:62189439-62205592 The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit slower weight gain, hyperleptinemia, increased oxygen consumption, decreased respiratory quotient, decreased liver triglyceride level and ameliorated hyperlipidemia and hepatosteatosis when fed a high-fat diet. RUNX3 regulates YAP1-mediated transcription GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HELZ2 https://www.uniprot.org/uniprot/Q9BYK8 https://www.ncbi.nlm.nih.gov/omim/?term=611265 http://www.informatics.jax.org/searchtool/Search.do?query=HELZ2&submit=Quick%0D%6396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HELZ2 rs3810483 0.536741 0.3968 0.5245 0.23 3 13 exonic exonic exonic HELZ2 HELZ2 ENSG00000130589 nonsynonymous SNV nonsynonymous SNV unknown HELZ2:NM_001037335:exon9:c.C6145G:p.Q2049E,HELZ2:NM_033405:exon3:c.C4438G:p.Q1480E, HELZ2:uc002yfl.1:exon3:c.C4438G:p.Q1480E,HELZ2:uc002yfm.2:exon9:c.C6145G:p.Q2049E, UNKNOWN Het;G>C 1235;53|54 Hom;G>C 3441;2|121 N N - 20 62194128 62194128 G A snp nonsynonymous SNV C6047T P2016L hydrophobic,neutral aliphatic,hydrophobic,neutral HELZ2 Helz2 ENSG00000130589 helicase with zinc finger 2 chr20:62189439-62205592 The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit slower weight gain, hyperleptinemia, increased oxygen consumption, decreased respiratory quotient, decreased liver triglyceride level and ameliorated hyperlipidemia and hepatosteatosis when fed a high-fat diet. RUNX3 regulates YAP1-mediated transcription GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HELZ2 https://www.uniprot.org/uniprot/Q9BYK8 https://www.ncbi.nlm.nih.gov/omim/?term=611265 http://www.informatics.jax.org/searchtool/Search.do?query=HELZ2&submit=Quick%0D%6396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HELZ2 rs3810485 0.274561 0.2418 0.3035 0.15 2 13 exonic exonic exonic HELZ2 HELZ2 ENSG00000130589 nonsynonymous SNV nonsynonymous SNV unknown HELZ2:NM_001037335:exon9:c.C6047T:p.P2016L,HELZ2:NM_033405:exon3:c.C4340T:p.P1447L, HELZ2:uc002yfl.1:exon3:c.C4340T:p.P1447L,HELZ2:uc002yfm.2:exon9:c.C6047T:p.P2016L, UNKNOWN Het;G>A 973;69|49 Hom;G>A 3423;2|121 N N - 21 34640788 34640788 A G snp nonsynonymous SNV A139G K47E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) IL10RB Il10rb ENSG00000243646 interleukin 10 receptor subunit beta chr21:34638663-34669539 The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008] Inflammation|Premature Birth; Infection|Inflammation|Premature Birth; Premature Birth|Vaginosis, Bacterial; Type 2 Diabetes| edema | rosiglitazone; Multiple Myeloma; Hyperparathyroidism, Secondary; Premature Birth; HIV Infections|[X]Human immunodeficiency virus disease; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Graft vs Host Disease; lung cancer; measles vaccine immunity; Scleroderma, Diffuse; Hepatitis B, Chronic; longevity; lung cancer ; benzene haematotoxicity; Measles|Mumps|Rubella; respiratory syncytial virus bronchiolitis; graft-versus-host disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections Most mice homozygous for a knock-out allele develop moderate to severe colitis without small intestinal involvement and splenomegaly with a hyperproliferative splenic red pulp. Interleukin-19,20,22,24,26,28 and 29 signaling GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;TAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0051607;defense response to virus;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0032002;interleukin-28 receptor complex;NAS|GO:0070062;extracellular exosome;IDA GO:0004872;receptor activity;TAS|GO:0004920;interleukin-10 receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IL10RB https://hpo.jax.org/app/browse/search?q=IL10RB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=123889 http://www.informatics.jax.org/searchtool/Search.do?query=IL10RB&submit=Quick%0D%19794ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL10RB rs2834167 0.339457 0.2145 0.3189 0.15 2 13 exonic exonic exonic IL10RB IL10RB ENSG00000243646,ENSG00000249624 nonsynonymous SNV nonsynonymous SNV unknown IL10RB:NM_000628:exon2:c.A139G:p.K47E, IL10RB:uc002yrl.2:exon1:c.A145G:p.K49E,IL10RB:uc002yrk.2:exon2:c.A139G:p.K47E,IL10RB:uc002yrh.1:exon3:c.A349G:p.K117E, UNKNOWN Het;A>G 850;55|42 Hom;A>G 2089;0|81 N N - 21 35893737 35893737 T C snp nonsynonymous SNV A481G R161G polar,hydrophilic,charged(+) aliphatic,neutral RCAN1 Rcan1 ENSG00000159200 regulator of calcineurin 1 chr21:35885440-35987441 The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] Leukemia, Lymphocytic, Chronic, B-Cell; Tobacco Use Disorder Unstressed homozygous mutant mice show no overt phenotype other than a slight reduction in heart size and an impaired T helper 1 response. Stress-induced cardiac hypertrophy, however, is attenuated in mutant mice. GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;TAS|GO:0007417;central nervous system development;TAS|GO:0007519;skeletal muscle tissue development;IEA|GO:0008015;blood circulation;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0019722;calcium-mediated signaling;IEA|GO:0033173;calcineurin-NFAT signaling cascade;IEA|GO:0043627;response to estrogen;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0051151;negative regulation of smooth muscle cell differentiation;IEA|GO:0070884;regulation of calcineurin-NFAT signaling cascade;IBA GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IBA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0008597;calcium-dependent protein serine/threonine phosphatase regulator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/RCAN1 https://www.ncbi.nlm.nih.gov/omim/?term=602917 http://www.informatics.jax.org/searchtool/Search.do?query=RCAN1&submit=Quick%0D%10299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RCAN1 rs8131131 0.59385 0 0.5032 0.25 1 4 intronic exonic exonic RCAN1 RCAN1 ENSG00000159200 Na nonsynonymous SNV unknown Na RCAN1:uc011adx.1:exon3:c.A481G:p.R161G, UNKNOWN Het;T>C 1297;41|56 Hom;T>C 2002;2|77 N N - 21 40778182 40778182 C T snp nonsynonymous SNV G1639A G547S aliphatic,neutral polar,hydrophilic,neutral LCA5L Lca5l ENSG00000157578 LCA5L, lebercilin like chr21:40777770-40817731 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LCA5L http://www.informatics.jax.org/searchtool/Search.do?query=LCA5L&submit=Quick%0D%10110ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCA5L rs11558767 0.0485224 0.0831 0.0849 0.00 0 13 exonic exonic exonic LCA5L LCA5L ENSG00000157578 nonsynonymous SNV nonsynonymous SNV unknown LCA5L:NM_152505:exon10:c.G1639A:p.G547S, LCA5L:uc002yxv.3:exon10:c.G1639A:p.G547S,LCA5L:uc002yxu.3:exon10:c.G1639A:p.G547S, UNKNOWN Het;C>T 2258;135|107 Hom;C>T 5493;0|201 N N - 21 40871810 40871810 T C snp nonsynonymous SNV T563C V188A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SH3BGR Sh3bgr ENSG00000185437 SH3 domain binding glutamate rich protein chr21:40817781-40887433 obesity; Glucose GO:0006461;protein complex assembly;TAS|GO:0009967;positive regulation of signal transduction;IEA GO:0005829;cytosol;IDA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3BGR https://www.ncbi.nlm.nih.gov/omim/?term=602230 http://www.informatics.jax.org/searchtool/Search.do?query=SH3BGR&submit=Quick%0D%15415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BGR rs9974333 0.550919 0.5061 0.5566 0.08 1 13 exonic exonic exonic SH3BGR SH3BGR ENSG00000185437 nonsynonymous SNV nonsynonymous SNV unknown SH3BGR:NM_007341:exon4:c.T563C:p.V188A,SH3BGR:NM_001001713:exon4:c.T230C:p.V77A, SH3BGR:uc002yya.3:exon4:c.T563C:p.V188A,SH3BGR:uc002yxz.3:exon4:c.T230C:p.V77A, UNKNOWN Het;T>C 1115;80|52 Hom;T>C 3216;0|118 N N - 21 40883671 40883671 G GAGA indel nonframeshift substitution 689_689delinsGAGA SH3BGR Sh3bgr ENSG00000185437 SH3 domain binding glutamate rich protein chr21:40817781-40887433 obesity; Glucose GO:0006461;protein complex assembly;TAS|GO:0009967;positive regulation of signal transduction;IEA GO:0005829;cytosol;IDA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH3BGR https://www.ncbi.nlm.nih.gov/omim/?term=602230 http://www.informatics.jax.org/searchtool/Search.do?query=SH3BGR&submit=Quick%0D%15415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BGR rs111921581 0 0.5513 0.5921 1 0 0 exonic exonic exonic SH3BGR SH3BGR ENSG00000185437 nonframeshift substitution nonframeshift substitution unknown SH3BGR:NM_007341:exon6:c.689_689delinsGAGA,SH3BGR:NM_001001713:exon6:c.356_356delinsGAGA, SH3BGR:uc002yya.3:exon6:c.689_689delinsGAGA,SH3BGR:uc002yxz.3:exon6:c.356_356delinsGAGA, UNKNOWN Het;+AGA 943;23|25 Hom;+AGA 1419;0|33 N N - 21 43161357 43161357 T C snp nonsynonymous SNV A1996G M666V hydrophobic,neutral aliphatic,hydrophobic,neutral RIPK4 Ripk4 ENSG00000183421 receptor interacting serine/threonine kinase 4 chr21:43159529-43187266 The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mutations in this gene result in perinatal lethality and epithelial developmental defects. Homozygous mutant lack oral, anal, and nasal openings and display shorter hindlimbs and tail that are partially fused to the body. The skin is significantly thicker with areas of orthokeratosis. GO:0002009;morphogenesis of an epithelium;IMP|GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RIPK4 https://hpo.jax.org/app/browse/search?q=RIPK4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605706 http://www.informatics.jax.org/searchtool/Search.do?query=RIPK4&submit=Quick%0D%14986ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIPK4 rs3746891 0.956869 0.9802 0.9652 0.08 1 13 exonic exonic exonic RIPK4 RIPK4 ENSG00000183421 nonsynonymous SNV nonsynonymous SNV unknown RIPK4:NM_020639:exon8:c.A1996G:p.M666V, RIPK4:uc002yzn.1:exon8:c.A1996G:p.M666V, UNKNOWN Het;T>C 2425;114|112 Hom;T>C 5586;0|198 N N - 21 45978592 45978592 T C snp nonsynonymous SNV A7G T3A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral KRTAP10-3 ENSG00000212935 keratin associated protein 10-3 chr21:45977673-45978643 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008] Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA http://www.genecards.org/index.php?path=/Search/keyword/KRTAP10-3 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP10-3&submit=Quick%0D%18071ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP10-3 rs452472 0.213059 0.2745 0.2885 0.08 1 12 exonic exonic exonic KRTAP10-3 KRTAP10-3 ENSG00000212935 nonsynonymous SNV nonsynonymous SNV unknown KRTAP10-3:NM_198696:exon1:c.A7G:p.T3A, KRTAP10-3:uc002zfj.1:exon1:c.A7G:p.T3A, UNKNOWN Het;T>C 134;2|4 Hom;T>C 152;0|4 N N - 21 46086488 46086488 C T snp nonsynonymous SNV G316A V106M aliphatic,hydrophobic,neutral hydrophobic,neutral KRTAP12-2 Gm10142 ENSG00000221864 keratin associated protein 12-2 chr21:46086106-46086844 Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRTAP12-2 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP12-2&submit=Quick%0D%18410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP12-2 rs75799438 0.0279553 0.0393 0.0382 0.08 1 12 exonic exonic exonic KRTAP12-2 KRTAP12-2 ENSG00000221864 nonsynonymous SNV nonsynonymous SNV unknown KRTAP12-2:NM_181684:exon1:c.G316A:p.V106M, KRTAP12-2:uc002zfu.3:exon1:c.G316A:p.V106M, UNKNOWN Het;C>T 3647;137|158 Hom;C>T 8308;27|311 N N - 21 46101993 46101993 C T snp nonsynonymous SNV G46A A16T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral KRTAP12-1 Gm29802 ENSG00000187175 keratin associated protein 12-1 chr21:46101491-46102078 Keratinization GO:0031424;keratinization;TAS GO:0005829;cytosol;TAS|GO:0005882;intermediate filament;IEA|GO:0045095;keratin filament;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRTAP12-1 http://www.informatics.jax.org/searchtool/Search.do?query=KRTAP12-1&submit=Quick%0D%15795ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRTAP12-1 rs55881656 0.0427316 0.0585 0.0529 0.08 1 12 exonic exonic exonic KRTAP12-1 KRTAP12-1 ENSG00000187175 nonsynonymous SNV nonsynonymous SNV unknown KRTAP12-1:NM_181686:exon1:c.G46A:p.A16T, KRTAP12-1:uc002zfv.3:exon1:c.G46A:p.A16T, UNKNOWN Het;C>T 3606;186|170 Hom;C>T 7442;4|275 N N - 21 47614469 47614469 A C snp nonsynonymous SNV T1924G L642V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LSS Lss ENSG00000281289 lanosterol synthase chr21:47608055-47648738 The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009] Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Tobacco Use Disorder GO:0016866;intramolecular transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/LSS https://hpo.jax.org/app/browse/search?q=LSS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600909 http://www.informatics.jax.org/searchtool/Search.do?query=LSS&submit=Quick%0D%22289ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LSS rs2254524 0.732228 0.7417 0.6750 0.15 2 13 exonic exonic exonic LSS LSS ENSG00000160285 nonsynonymous SNV nonsynonymous SNV unknown LSS:NM_002340:exon20:c.T1924G:p.L642V,LSS:NM_001001438:exon20:c.T1924G:p.L642V,LSS:NM_001145436:exon20:c.T1891G:p.L631V,LSS:NM_001145437:exon19:c.T1684G:p.L562V, LSS:uc002zik.2:exon19:c.T1684G:p.L562V,LSS:uc011afv.1:exon20:c.T1891G:p.L631V,LSS:uc002zil.2:exon20:c.T1924G:p.L642V,LSS:uc002zij.3:exon20:c.T1924G:p.L642V, UNKNOWN Het;A>C 279;38|18 Hom;A>C 1130;0|42 N N - 21 47773177 47773177 C T snp nonsynonymous SNV C1616T T539I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral PCNT Pcnt ENSG00000160299 pericentrin chr21:47744036-47865682 The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCNT https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605925 http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT rs2249060 0.159345 0.1176 0.1471 0.17 2 12 exonic exonic exonic PCNT PCNT ENSG00000160299 nonsynonymous SNV nonsynonymous SNV unknown PCNT:NM_006031:exon10:c.C1616T:p.T539I, PCNT:uc002zji.4:exon10:c.C1616T:p.T539I,PCNT:uc002zjj.3:exon10:c.C1262T:p.T421I, UNKNOWN Het;C>T 1154;37|57 Hom;C>T 2752;0|103 N N - 21 47786524 47786524 A G snp nonsynonymous SNV A2635G T879A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral PCNT Pcnt ENSG00000160299 pericentrin chr21:47744036-47865682 The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCNT https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605925 http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT rs2839227 0.316693 0.2597 0.2050 0.08 1 13 exonic exonic exonic PCNT PCNT ENSG00000160299 nonsynonymous SNV nonsynonymous SNV unknown PCNT:NM_006031:exon15:c.A2635G:p.T879A, PCNT:uc002zji.4:exon15:c.A2635G:p.T879A,PCNT:uc002zjj.3:exon15:c.A2281G:p.T761A, UNKNOWN Het;A>G 1097;55|51 Hom;A>G 3155;0|116 N N - 21 47808679 47808679 C T snp nonsynonymous SNV C3487T R1163C polar,hydrophilic,charged(+) polar,hydrophobic,neutral PCNT Pcnt ENSG00000160299 pericentrin chr21:47744036-47865682 The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCNT https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605925 http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT rs7279204 0.152157 0.1075 0.1479 0.54 7 13 exonic exonic exonic PCNT PCNT ENSG00000160299 nonsynonymous SNV nonsynonymous SNV unknown PCNT:NM_006031:exon18:c.C3487T:p.R1163C, PCNT:uc002zji.4:exon18:c.C3487T:p.R1163C,PCNT:uc002zjj.3:exon18:c.C3133T:p.R1045C, UNKNOWN Het;C>T 1191;60|61 Hom;C>T 2672;1|102 N N - 21 47821588 47821588 A G snp nonsynonymous SNV A4915G I1639V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PCNT Pcnt ENSG00000160299 pericentrin chr21:47744036-47865682 The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCNT https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605925 http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT rs6518291 0.334665 0.3136 0.2494 0.08 1 13 exonic exonic exonic PCNT PCNT ENSG00000160299 nonsynonymous SNV nonsynonymous SNV unknown PCNT:NM_006031:exon26:c.A4915G:p.I1639V, PCNT:uc002zji.4:exon26:c.A4915G:p.I1639V,PCNT:uc002zjj.3:exon26:c.A4561G:p.I1521V, UNKNOWN Het;A>G 1570;72|73 Hom;A>G 3330;0|119 N N - 21 47850484 47850484 G C snp nonsynonymous SNV G7977C Q2659H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) PCNT Pcnt ENSG00000160299 pericentrin chr21:47744036-47865682 The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCNT https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605925 http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT rs2070426 0.488219 0.4841 0.5774 0.08 1 13 exonic exonic exonic PCNT PCNT ENSG00000160299 nonsynonymous SNV nonsynonymous SNV unknown PCNT:NM_006031:exon37:c.G7977C:p.Q2659H, PCNT:uc002zji.4:exon37:c.G7977C:p.Q2659H,PCNT:uc002zjj.3:exon37:c.G7623C:p.Q2541H, UNKNOWN Het;G>C 1113;48|52 Hom;G>C 1797;0|59 N N - 21 47851753 47851753 A G snp nonsynonymous SNV A8375G Q2792R polar,hydrophilic,neutral polar,hydrophilic,charged(+) PCNT Pcnt ENSG00000160299 pericentrin chr21:47744036-47865682 The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] schizophrenia | bipolar disorder; schizophrenia; major depressive disorder; Alzheimer's disease ; Glomerular Filtration Rate; breast cancer; Bone Density; Neuropsychological Tests; bipolar disorder; Triglycerides Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000226;microtubule cytoskeleton organization;IMP|GO:0007052;mitotic spindle organization;IMP|GO:0060271;cilium assembly;IDA|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0016020;membrane;IDA|GO:0034451;centriolar satellite;IDA GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCNT https://hpo.jax.org/app/browse/search?q=PCNT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605925 http://www.informatics.jax.org/searchtool/Search.do?query=PCNT&submit=Quick%0D%10447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCNT rs2073376 0.669928 0.6918 0.6397 0.08 1 13 exonic exonic exonic PCNT PCNT ENSG00000160299 nonsynonymous SNV nonsynonymous SNV unknown PCNT:NM_006031:exon38:c.A8375G:p.Q2792R, PCNT:uc002zji.4:exon38:c.A8375G:p.Q2792R,PCNT:uc002zjj.3:exon38:c.A8021G:p.Q2674R, UNKNOWN Het;A>G 1314;73|61 Hom;A>G 3470;0|122 N N - 22 17590180 17590180 G A snp nonsynonymous SNV G1969A A657T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral IL17RA Il17ra ENSG00000177663 interleukin 17 receptor A chr22:17565844-17596583 Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014] Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis. Interleukin-17 signaling GO:0007166;cell surface receptor signaling pathway;NAS|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0050832;defense response to fungus;IEA|GO:0071345;cellular response to cytokine stimulus;IEA|GO:0071621;granulocyte chemotaxis;IEA|GO:0072537;fibroblast activation;IDA|GO:1900017;positive regulation of cytokine production involved in inflammatory response;IEA|GO:2000664;positive regulation of interleukin-5 secretion;IEA|GO:2000667;positive regulation of interleukin-13 secretion;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0030368;interleukin-17 receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/IL17RA https://hpo.jax.org/app/browse/search?q=IL17RA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605461 http://www.informatics.jax.org/searchtool/Search.do?query=IL17RA&submit=Quick%0D%14062ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17RA rs41323645 0.113818 0.1282 0.3023 0.38 5 13 exonic exonic exonic IL17RA IL17RA ENSG00000177663 nonsynonymous SNV nonsynonymous SNV unknown IL17RA:NM_001289905:exon12:c.G1969A:p.A657T,IL17RA:NM_014339:exon13:c.G2071A:p.A691T, IL17RA:uc002zly.4:exon13:c.G2071A:p.A691T, UNKNOWN Het;G>A 668;44|31 Hom;G>A 2117;2|80 N N - 22 17669306 17669306 T C snp nonsynonymous SNV A878G H293R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) CECR1 rs2231495 0.364617 0.4056 0.3473 0.15 2 13 exonic exonic exonic CECR1 CECR1 ENSG00000093072 nonsynonymous SNV nonsynonymous SNV unknown CECR1:NM_001282228:exon7:c.A878G:p.H293R,CECR1:NM_001282229:exon6:c.A644G:p.H215R,CECR1:NM_177405:exon4:c.A281G:p.H94R,CECR1:NM_001282225:exon7:c.A1004G:p.H335R,CECR1:NM_001282227:exon7:c.A878G:p.H293R,CECR1:NM_001282226:exon7:c.A1004G:p.H335R, CECR1:uc011agi.1:exon7:c.A878G:p.H293R,CECR1:uc010gqu.1:exon7:c.A1004G:p.H335R,CECR1:uc002zmk.1:exon6:c.A1004G:p.H335R,CECR1:uc002zmj.1:exon4:c.A281G:p.H94R, UNKNOWN Het;T>C 890;36|44 Hom;T>C 2145;0|78 22_4.194_23.194 Chr22:17733575-25291782 0.374 22 19130247 19130247 G A snp nonsynonymous SNV C296T P99L hydrophobic,neutral aliphatic,hydrophobic,neutral DGCR14 Dgcr14 ENSG00000100056 chr22:19117792-19132197 This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] Chronic renal failure|Kidney Failure, Chronic; schizophrenia; Type 2 Diabetes| edema | rosiglitazone GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;ISS|GO:0008380;RNA splicing;IEA GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IEA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DGCR14 https://www.uniprot.org/uniprot/Q96DF8 http://www.informatics.jax.org/searchtool/Search.do?query=DGCR14&submit=Quick%0D%2390ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DGCR14 rs111488352 0.00139776 0.0080 0.0077 0.46 6 13 exonic exonic exonic DGCR14 DGCR14 ENSG00000100056 nonsynonymous SNV nonsynonymous SNV unknown DGCR14:NM_022719:exon2:c.C296T:p.P99L, DGCR14:uc002zou.3:exon2:c.C296T:p.P99L, UNKNOWN Het;G>A 1426;80|65 Hom;G>A 2825;0|107 22_4.194_23.194 Chr22:17733575-25291782 0.374 22 19470249 19470249 G A snp nonsynonymous SNV G241A V81I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CDC45 Cdc45 ENSG00000093009 cell division cycle 45 chr22:19466982-19508135 The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Colorectal Neoplasms|; Leukemia, Lymphocytic, Chronic, B-Cell; Tobacco Use Disorder Homozygous mutant embryos do not develop after implantation, resulting in embryonic lethality between E4.5-E5.5. Heterozygous animals appear normal and fertile. Activation of the pre-replicative complex GO:0000076;DNA replication checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000727;double-strand break repair via break-induced replication;IBA|GO:0006260;DNA replication;TAS|GO:0006267;pre-replicative complex assembly involved in nuclear cell cycle DNA replication;IBA|GO:0006270;DNA replication initiation;TAS|GO:0007049;cell cycle;IEA|GO:0031938;regulation of chromatin silencing at telomere;IBA|GO:0032508;DNA duplex unwinding;IEA|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IBA|GO:1902977;mitotic DNA replication preinitiation complex assembly;IBA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005656;nuclear pre-replicative complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0031261;DNA replication preinitiation complex;IBA|GO:0031298;replication fork protection complex;IBA GO:0003682;chromatin binding;IBA|GO:0003688;DNA replication origin binding;IBA|GO:0003697;single-stranded DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0043138;3'-5' DNA helicase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CDC45 https://www.uniprot.org/uniprot/O75419 https://hpo.jax.org/app/browse/search?q=CDC45&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603465 http://www.informatics.jax.org/searchtool/Search.do?query=CDC45&submit=Quick%0D%2212ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC45 rs13447203 0.0061901 0.0078 0.0099 0.15 2 13 exonic exonic exonic CDC45 CDC45 ENSG00000093009 nonsynonymous SNV nonsynonymous SNV unknown CDC45:NM_001178010:exon4:c.G241A:p.V81I,CDC45:NM_003504:exon4:c.G241A:p.V81I, CDC45:uc011agz.1:exon4:c.G226A:p.V76I,CDC45:uc011aha.2:exon4:c.G241A:p.V81I,CDC45:uc002zpr.3:exon4:c.G241A:p.V81I, UNKNOWN Het;G>A 1093;67|57 Hom;G>A 2137;0|81 22_4.194_23.194 Chr22:17733575-25291782 0.374 22 19766782 19766782 C T snp nonsynonymous SNV C1049T T350M polar,hydrophilic,neutral hydrophobic,neutral TBX1 Tbx1 ENSG00000184058 T-box 1 chr22:19744226-19771116 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] patent ductus arteriosus; congenital heart defects; heart anomalies, congenital; Chromosome Deletion; Cleft Lip|Cleft Palate; tetralogy of Fallot; null; Marijuana Abuse|Psychoses, Substance-Induced; Erythrocyte Count; Schizophrenia; DiGeorge syndrome Homozygous null mice display neonatal lethality, persistent truncus arteriosis, abnormal aortic arch, abnormal inner, middle, and outer ear morphology, abnormal lymphangiogenesis, and abnormal cranial base morphology. Heterozygous null mice display abnormal fourth aortic arch arteries. GO:0001525;angiogenesis;ISS|GO:0001568;blood vessel development;ISS|GO:0001708;cell fate specification;ISS|GO:0001755;neural crest cell migration;ISS|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0001945;lymph vessel development;ISS|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003007;heart morphogenesis;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003151;outflow tract morphogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;ISS|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;ISS|GO:0007389;pattern specification process;ISS|GO:0007498;mesoderm development;ISS|GO:0007507;heart development;IMP|GO:0007517;muscle organ development;ISS|GO:0007605;sensory perception of sound;ISS|GO:0008283;cell proliferation;ISS|GO:0008284;positive regulation of cell proliferation;ISS|GO:0009952;anterior/posterior pattern specification;ISS|GO:0021644;vagus nerve morphogenesis;ISS|GO:0030855;epithelial cell differentiation;ISS|GO:0030878;thyroid gland development;ISS|GO:0035176;social behavior;ISS|GO:0035909;aorta morphogenesis;ISS|GO:0042471;ear morphogenesis;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0042473;outer ear morphogenesis;ISS|GO:0042474;middle ear morphogenesis;ISS|GO:0042475;odontogenesis of dentin-containing tooth;ISS|GO:0042693;muscle cell fate commitment;ISS|GO:0043410;positive regulation of MAPK cascade;ISS|GO:0043587;tongue morphogenesis;ISS|GO:0044344;cellular response to fibroblast growth factor stimulus;ISS|GO:0045596;negative regulation of cell differentiation;ISS|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048384;retinoic acid receptor signaling pathway;ISS|GO:0048514;blood vessel morphogenesis;ISS|GO:0048538;thymus development;IMP|GO:0048644;muscle organ morphogenesis;ISS|GO:0048701;embryonic cranial skeleton morphogenesis;ISS|GO:0048703;embryonic viscerocranium morphogenesis;IMP|GO:0048752;semicircular canal morphogenesis;ISS|GO:0048844;artery morphogenesis;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0060017;parathyroid gland development;IMP|GO:0060023;soft palate development;IMP|GO:0060037;pharyngeal system development;IMP|GO:0060325;face morphogenesis;ISS|GO:0060415;muscle tissue morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;ISS|GO:0070166;enamel mineralization;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:0090103;cochlea morphogenesis;ISS|GO:0097152;mesenchymal cell apoptotic process;ISS|GO:2000027;regulation of organ morphogenesis;ISS|GO:2001037;positive regulation of tongue muscle cell differentiation;ISS|GO:2001054;negative regulation of mesenchymal cell apoptotic process;ISS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TBX1 https://hpo.jax.org/app/browse/search?q=TBX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602054 http://www.informatics.jax.org/searchtool/Search.do?query=TBX1&submit=Quick%0D%15129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX1 rs4819522 0.209265 0.1725 0.2111 0.42 5 12 exonic exonic exonic TBX1 TBX1 ENSG00000184058 nonsynonymous SNV nonsynonymous SNV unknown TBX1:NM_080646:exon9:c.C1049T:p.T350M, TBX1:uc002zqb.3:exon9:c.C1049T:p.T350M, UNKNOWN Het;C>T 1427;66|68 Hom;C>T 2982;0|109 22_4.194_23.194 Chr22:17733575-25291782 0.374 22 20779768 20779768 G C snp nonsynonymous SNV C2494G R832G polar,hydrophilic,charged(+) aliphatic,neutral SCARF2 Scarf2 ENSG00000244486 scavenger receptor class F member 2 chr22:20778874-20792146 The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic GO:0006898;receptor-mediated endocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SCARF2 https://hpo.jax.org/app/browse/search?q=SCARF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613619 http://www.informatics.jax.org/searchtool/Search.do?query=SCARF2&submit=Quick%0D%19851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCARF2 rs874101 0.534545 0.6539 0.5814 0.10 1 10 exonic exonic exonic SCARF2 SCARF2 ENSG00000244486 nonsynonymous SNV nonsynonymous SNV unknown SCARF2:NM_182895:exon12:c.C2494G:p.R832G,SCARF2:NM_153334:exon12:c.C2509G:p.R837G, SCARF2:uc002zsj.2:exon11:c.C2510G:p.A837G,SCARF2:uc002zsk.2:exon11:c.C2495G:p.A832G, UNKNOWN Het;G>C 924;65|50 Hom;G>C 2595;0|96 22_4.194_23.194 Chr22:17733575-25291782 0.374 22 22989270 22989270 G A snp nonsynonymous SNV G223A D75N polar,hydrophilic,charged(-) polar,hydrophilic,neutral GGTLC2 Ggt1 ENSG00000100121 gamma-glutamyltransferase light chain 2 chr22:22988780-22990368 This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative splicing results in multiple transcript variants. There are several related family members and related pseudogene for this gene situated in the same region of chromosome 22. [provided by RefSeq, Sep 2013] GO:0006508;proteolysis;IEA|GO:0006749;glutathione metabolic process;NAS|GO:0006751;glutathione catabolic process;IEA|GO:0019370;leukotriene biosynthetic process;ISS GO:0031362;anchored component of external side of plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0003840;gamma-glutamyltransferase activity;TAS|GO:0036374;glutathione hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGTLC2 https://www.uniprot.org/uniprot/Q14390 https://www.ncbi.nlm.nih.gov/omim/?term=612339 http://www.informatics.jax.org/searchtool/Search.do?query=GGTLC2&submit=Quick%0D%2411ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGTLC2 rs2330126 0.16893 0 0.1739 0.08 1 12 exonic exonic exonic GGTLC2 GGTLC2 ENSG00000100121 nonsynonymous SNV nonsynonymous SNV unknown GGTLC2:NM_001282879:exon3:c.G223A:p.D75N,GGTLC2:NM_199127:exon2:c.G223A:p.D75N, GGTLC2:uc010gts.2:exon2:c.G223A:p.D75N,GGTLC2:uc010gtt.2:exon2:c.G223A:p.D75N, UNKNOWN Het;G>A 1363;75|41 Hom;G>A 4406;0|96 22_4.194_23.194 Chr22:17733575-25291782 0.374 22 23915652 23915652 G A snp nonsynonymous SNV C443T T148I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral IGLL1 Igll1 ENSG00000128322 immunoglobulin lambda like polypeptide 1 chr22:23915312-23922495 The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Cholesterol; height; Migraine without Aura Mice homozygous for a knock-out allele exhibit spleen hypoplasia, a leaky blockade of B cell development at the pre-B stage, and decreased IgG levels in response to a T-cell dependent antigen. Cell surface interactions at the vascular wall GO:0006910;phagocytosis, recognition;IBA|GO:0006911;phagocytosis, engulfment;IBA|GO:0006955;immune response;NAS|GO:0006958;complement activation, classical pathway;IBA|GO:0042742;defense response to bacterium;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IBA|GO:0050871;positive regulation of B cell activation;IBA|GO:0050900;leukocyte migration;TAS GO:0005576;extracellular region;TAS|GO:0009897;external side of plasma membrane;IBA|GO:0016020;membrane;NAS|GO:0042571;immunoglobulin complex, circulating;IBA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IBA GO:0003823;antigen binding;IBA|GO:0034987;immunoglobulin receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/IGLL1 https://www.uniprot.org/uniprot/P15814 https://hpo.jax.org/app/browse/search?q=IGLL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=146770 http://www.informatics.jax.org/searchtool/Search.do?query=IGLL1&submit=Quick%0D%6128ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLL1 rs73157031 0.138778 0.0981 0.1500 0.08 1 13 exonic exonic exonic IGLL1 IGLL1 ENSG00000128322 nonsynonymous SNV nonsynonymous SNV unknown IGLL1:NM_020070:exon3:c.C443T:p.T148I, IGLL1:uc002zxd.3:exon3:c.C443T:p.T148I, UNKNOWN Het;G>A 2436;124|116 Hom;G>A 5378;0|198 22_4.194_23.194 Chr22:17733575-25291782 0.374 22 25145471 25145471 A G snp nonsynonymous SNV T1234C C412R polar,hydrophobic,neutral polar,hydrophilic,charged(+) PIWIL3 ENSG00000184571 piwi like RNA-mediated gene silencing 3 chr22:25115001-25170687 This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The encoded protein is thought to function in maintenance of germline cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Azoospermia|Oligospermia Homozygotes for a targeted null mutation exhibit male sterility due to a block in spermatogenesis beginning at the round spermatid stage. GO:0006417;regulation of translation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0051321;meiotic cell cycle;IEA GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIWIL3 https://www.ncbi.nlm.nih.gov/omim/?term=610314 http://www.informatics.jax.org/searchtool/Search.do?query=PIWIL3&submit=Quick%0D%15235ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIWIL3 rs1892722 0.672923 0.6173 0.6206 0.08 1 13 exonic exonic exonic PIWIL3 PIWIL3 ENSG00000184571 nonsynonymous SNV nonsynonymous SNV unknown PIWIL3:NM_001008496:exon11:c.T1234C:p.C412R,PIWIL3:NM_001255975:exon11:c.T1234C:p.C412R, PIWIL3:uc011ajx.2:exon12:c.T907C:p.C303R,PIWIL3:uc010gut.2:exon11:c.T1234C:p.C412R,PIWIL3:uc003abd.2:exon11:c.T1234C:p.C412R,PIWIL3:uc011ajy.2:exon12:c.T907C:p.C303R, UNKNOWN Het;A>G 582;60|32 Hom;A>G 2760;2|100 N N - 22 26239850 26239850 C A snp nonsynonymous SNV C3357A H1119Q aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral MYO18B Myo18b ENSG00000133454 myosin XVIIIB chr22:26138111-26427007 The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008] Body Weight; Metabolism; smoking cessation; Tobacco Use Disorder; Macular Degeneration; Uric Acid; Body Height; Glucose; Waist Circumference; Mental Disorders Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities. GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0048739;cardiac muscle fiber development;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031941;filamentous actin;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO18B https://www.uniprot.org/uniprot/Q8IUG5 https://hpo.jax.org/app/browse/search?q=MYO18B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607295 http://www.informatics.jax.org/searchtool/Search.do?query=MYO18B&submit=Quick%0D%6838ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO18B rs5761268 0.723442 0.6421 0.7340 0.15 2 13 exonic exonic exonic MYO18B MYO18B ENSG00000133454 nonsynonymous SNV nonsynonymous SNV unknown MYO18B:NM_032608:exon18:c.C3357A:p.H1119Q, MYO18B:uc010guz.1:exon16:c.C3000A:p.H1000Q,MYO18B:uc003aca.1:exon16:c.C3000A:p.H1000Q,MYO18B:uc011aka.1:exon15:c.C819A:p.H273Q,MYO18B:uc010guy.1:exon16:c.C3003A:p.H1001Q,MYO18B:uc003abz.1:exon18:c.C3357A:p.H1119Q,MYO18B:uc011akb.1:exon14:c.C1896A:p.H632Q, UNKNOWN Het;C>A 542;47|28 Hom;C>A 1466;0|56 N N - 22 26695077 26695077 G T snp nonsynonymous SNV G1290T M430I hydrophobic,neutral aliphatic,hydrophobic,neutral SEZ6L Sez6l ENSG00000100095 seizure related 6 homolog like chr22:26565440-26779562 Neutrophils; Coronary Disease; lung cancer; Fibrinogen; Glucose; Insulin Resistance; Hypertrophy, Left Ventricular; Lipids; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Tobacco Use Disorder; Alcoholism; Coronary Artery Disease; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task. GO:0008344;adult locomotory behavior;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0060074;synapse maturation;IEA|GO:0090036;regulation of protein kinase C signaling;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEZ6L https://www.uniprot.org/uniprot/Q9BYH1 https://www.ncbi.nlm.nih.gov/omim/?term=607021 http://www.informatics.jax.org/searchtool/Search.do?query=SEZ6L&submit=Quick%0D%2401ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEZ6L rs663048 0.187899 0.2606 0.2093 0.08 1 13 exonic exonic exonic SEZ6L SEZ6L ENSG00000100095 nonsynonymous SNV nonsynonymous SNV unknown SEZ6L:NM_021115:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184773:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184775:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184776:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184777:exon5:c.G1290T:p.M430I,SEZ6L:NM_001184774:exon5:c.G1290T:p.M430I, SEZ6L:uc011akd.2:exon5:c.G1290T:p.M430I,SEZ6L:uc003ace.3:exon5:c.G1290T:p.M430I,SEZ6L:uc003acb.3:exon5:c.G1290T:p.M430I,SEZ6L:uc011akc.2:exon5:c.G1290T:p.M430I,SEZ6L:uc010gvc.1:exon4:c.G609T:p.M203I,SEZ6L:uc003acc.3:exon5:c.G1290T:p.M430I,SEZ6L:uc003acd.3:exon5:c.G1290T:p.M430I,SEZ6L:uc003acf.1:exon4:c.G609T:p.M203I, UNKNOWN Het;G>T 313;23|18 Hom;G>T 1594;0|58 N N - 22 26860269 26860269 G C snp nonsynonymous SNV C1312G L438V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HPS4 Hps4 ENSG00000100099 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 chr22:26839389-26879803 This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Glucose; oculocutaneous albinism; colitis Homozygotes for a spontaneous null mutation exhibit hypopigmentation, prolonged bleeding associated with a platelet defect, reduced secretion of kidney lysosomal enzymes, and resistance to diet-induced atherosclerosis. RAB GEFs exchange GTP for GDP on RABs GO:0006605;protein targeting;IDA|GO:0006996;organelle organization;IEA|GO:0007040;lysosome organization;IDA|GO:0007596;blood coagulation;IEA|GO:0007599;hemostasis;TAS|GO:0030318;melanocyte differentiation;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048075;positive regulation of eye pigmentation;TAS|GO:0050821;protein stabilization;IPI|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IEA|GO:0042470;melanosome;IDA|GO:0042827;platelet dense granule;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/HPS4 https://www.uniprot.org/uniprot/Q9NQG7 https://hpo.jax.org/app/browse/search?q=HPS4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606682 http://www.informatics.jax.org/searchtool/Search.do?query=HPS4&submit=Quick%0D%2403ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS4 rs2014410 0.354233 0.3781 0.3829 0.23 3 13 exonic exonic exonic HPS4 HPS4 ENSG00000100099 nonsynonymous SNV nonsynonymous SNV unknown HPS4:NM_152841:exon9:c.C1312G:p.L438V,HPS4:NM_022081:exon11:c.C1327G:p.L443V, HPS4:uc003acl.4:exon11:c.C1327G:p.L443V,HPS4:uc003acj.4:exon10:c.C919G:p.L307V,HPS4:uc003aci.4:exon9:c.C1312G:p.L438V,HPS4:uc003acn.4:exon11:c.C865G:p.L289V,HPS4:uc003ack.4:exon10:c.C700G:p.L234V,HPS4:uc010gvd.2:exon12:c.C1381G:p.L461V,HPS4:uc003ach.4:exon6:c.C532G:p.L178V, UNKNOWN Het;G>C 1783;64|74 Hom;G>C 3761;4|139 N N - 22 30860830 30860830 C T snp nonsynonymous SNV G410A R137H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) SEC14L3 Sec14l3 ENSG00000100012 SEC14 like lipid binding 3 chr22:30843946-30868036 The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] Blood Pressure GO:0006810;transport;IEA GO:0005622;intracellular;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SEC14L3 https://www.uniprot.org/uniprot/Q9UDX4 https://www.ncbi.nlm.nih.gov/omim/?term=612824 http://www.informatics.jax.org/searchtool/Search.do?query=SEC14L3&submit=Quick%0D%2375ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC14L3 rs2269961 0.220048 0.2187 0.2157 0.77 10 13 exonic exonic exonic SEC14L3 SEC14L3 ENSG00000100012 nonsynonymous SNV nonsynonymous SNV unknown SEC14L3:NM_001257378:exon10:c.G410A:p.R137H,SEC14L3:NM_001257379:exon9:c.G464A:p.R155H,SEC14L3:NM_174975:exon8:c.G641A:p.R214H,SEC14L3:NM_001257382:exon9:c.G464A:p.R155H, SEC14L3:uc003aib.3:exon9:c.G464A:p.R155H,SEC14L3:uc003ahz.3:exon10:c.G410A:p.R137H,SEC14L3:uc003aia.3:exon9:c.G464A:p.R155H,SEC14L3:uc003ahy.3:exon8:c.G641A:p.R214H, UNKNOWN Het;C>T 1345;49|64 Hom;C>T 2310;0|91 N N - 22 30975861 30975861 C T snp nonsynonymous SNV G814A A272T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral PES1 Pes1 ENSG00000100029 pescadillo ribosomal biogenesis factor 1 chr22:30972612-31003070 This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011] Targeted disuption of the mouse gene results in embryonic arrest at morula stages of development, as well as failure of nucleologenesis and disruption of ribosome biogenesis. Major pathway of rRNA processing in the nucleolus and cytosol GO:0000463;maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0000466;maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IEA|GO:0006364;rRNA processing;TAS|GO:0007000;nucleolus organization;IEA|GO:0008283;cell proliferation;IMP|GO:0033365;protein localization to organelle;IEA|GO:0042254;ribosome biogenesis;IEA|GO:0042273;ribosomal large subunit biogenesis;IEA|GO:0051726;regulation of cell cycle;IMP GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0030687;preribosome, large subunit precursor;IEA|GO:0070545;PeBoW complex;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0043021;ribonucleoprotein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PES1 https://www.uniprot.org/uniprot/O00541 https://www.ncbi.nlm.nih.gov/omim/?term=605819 http://www.informatics.jax.org/searchtool/Search.do?query=PES1&submit=Quick%0D%2381ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PES1 rs34123894 0.0944489 0.0375 0.0554 0.31 4 13 exonic exonic exonic PES1 PES1 ENSG00000100029 nonsynonymous SNV nonsynonymous SNV unknown PES1:NM_001282328:exon14:c.G814A:p.A272T,PES1:NM_001243225:exon12:c.G1216A:p.A406T,PES1:NM_014303:exon12:c.G1231A:p.A411T,PES1:NM_001282327:exon14:c.G814A:p.A272T, PES1:uc003aio.1:exon14:c.G814A:p.A272T,PES1:uc003ain.1:exon14:c.G814A:p.A272T,PES1:uc003aik.2:exon12:c.G1216A:p.A406T,PES1:uc003aij.2:exon12:c.G1231A:p.A411T, UNKNOWN Het;C>T 862;49|43 Hom;C>T 2715;2|103 N N - 22 31011610 31011610 G C snp nonsynonymous SNV G695C R232P polar,hydrophilic,charged(+) hydrophobic,neutral TCN2 Tcn2 ENSG00000185339 transcobalamin 2 chr22:31002825-31023265 This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Intracranial Aneurysm; Down Syndrome; Cleft Lip|Cleft Palate; Heart Defects, Congenital|Hyperhomocysteinemia; colorectal cancer; oxidative stress; Adenocarcinoma|Stomach Neoplasms; homocysteine; vitamin B12; holotranscobalamin; methylmalonic acid; null; pregnancy loss, second trimester; orofacial clefts; brain cancer; Hyperhomocysteinemia; betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; prostate cancer; Chronic renal failure|Kidney Failure, Chronic; Apoplexy|Brain Ischemia|Stroke; cerebrovascular disease, ischemic; Congenital Abnormalities|; Cleft Lip|Cleft Palate|; Alcoholism; Colitis, Ulcerative; neural tube defects; vascular disease; Brain Neoplasms|Meningioma; atherosclerosis; Alzheimer's Disease; Spinal Dysraphism; omphalocele; Premature Birth; neural tube defects ; cardiac defects; Central Nervous System Neoplasms|Lymphoma; Anemia, Iron-Deficiency|Avitaminosis; female infertility; malaria, plasmodium falciparum; Congenital Heart Defects|Heart Defects, Congenital; Congenital Heart Defects|Heart Defects, Congenital|Obesity; 1-carbon metabolism; spontaneous abortion; Infection|Inflammation|Premature Birth; folate homocysteine vitamin B12; Aortic Aneurysm, Abdominal|; Cerebrovascular Disorders; cleft lip with cleft palate cleft lip without cleft palate; kidney transplant complications; Central Nervous System Neoplasms|Central Nervous System Tumors|Lymphoma; Inflammation|Premature Birth This locus controls transcobalamin-2 electrophoretic variation. The s allele determines a slow band in serum from A/J, C57BL/6, BALB/c and C3H/He; the f allele determines faster form in NZB, ST/b and CPB-WV. Heterozygotes have both forms. Sequencing reveals a Gly to Glu substitution in NZB compared to BALB/c, DBA/2 and C57BL/6 (Genbank AF090686). Defective CD320 causes methylmalonic aciduria GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006824;cobalt ion transport;IEA|GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005768;endosome;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0031419;cobalamin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TCN2 https://hpo.jax.org/app/browse/search?q=TCN2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613441 http://www.informatics.jax.org/searchtool/Search.do?query=TCN2&submit=Quick%0D%15398ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCN2 rs1801198 0.579673 0.6333 0.5673 0.23 3 13 exonic exonic exonic TCN2 TCN2 ENSG00000185339 nonsynonymous SNV nonsynonymous SNV unknown TCN2:NM_001184726:exon6:c.G695C:p.R232P,TCN2:NM_000355:exon6:c.G776C:p.R259P, TCN2:uc003air.2:exon6:c.G695C:p.R232P,TCN2:uc003aip.2:exon6:c.G776C:p.R259P, UNKNOWN Het;G>C 386;16|16 Hom;G>C 1322;0|41 N N - 22 31521404 31521404 G A snp nonsynonymous SNV G679A A227T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral INPP5J Inpp5j ENSG00000185133 inositol polyphosphate-5-phosphatase J chr22:31518717-31530682 Mice homozygous for a null allele are viable, fertile, and show normal mammary gland development and no spontaneous mammary tumors. However, in an oncogene-driven breast cancer mouse model, mice show increased mammary hyperplasia and tumor growth paradoxically associated with reduced lung metastases. Synthesis of IP3 and IP4 in the cytosol GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0010977;negative regulation of neuron projection development;IEA|GO:0031115;negative regulation of microtubule polymerization;IEA|GO:0033137;negative regulation of peptidyl-serine phosphorylation;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0046856;phosphatidylinositol dephosphorylation;IEA GO:0001726;ruffle;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0030426;growth cone;IEA|GO:0043198;dendritic shaft;IEA GO:0004439;phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity;TAS|GO:0004445;inositol-polyphosphate 5-phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IEA|GO:0034485;phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity;TAS|GO:0052658;inositol-1,4,5-trisphosphate 5-phosphatase activity;TAS|GO:0052659;inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/INPP5J https://www.ncbi.nlm.nih.gov/omim/?term=606481 http://www.informatics.jax.org/searchtool/Search.do?query=INPP5J&submit=Quick%0D%15352ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INPP5J rs2240432 0.378395 0 0.3789 0.25 3 12 exonic exonic exonic INPP5J INPP5J ENSG00000185133 nonsynonymous SNV nonsynonymous SNV unknown INPP5J:NM_001284285:exon2:c.G679A:p.A227T,INPP5J:NM_001284286:exon3:c.G478A:p.A160T, INPP5J:uc003aju.4:exon2:c.G679A:p.A227T,INPP5J:uc011alk.2:exon3:c.G478A:p.A160T,INPP5J:uc010gwf.3:exon4:c.G679A:p.A227T, UNKNOWN Het;G>A 1291;71|63 Hom;G>A 2657;2|100 N N - 22 31904262 31904264 CTT C indel UTR5;UTR3 -9_-7delinsC SFI1 Sfi1 ENSG00000198089 SFI1 centrin binding protein chr22:31884674-32014572 AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SFI1 https://www.ncbi.nlm.nih.gov/omim/?term=612765 http://www.informatics.jax.org/searchtool/Search.do?query=SFI1&submit=Quick%0D%16812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SFI1 rs146128116 0.0403355 0.0387 0.0569 1 0 0 UTR5 UTR5 UTR5;UTR3 SFI1(NM_001258326:c.-9_-7delinsC,NM_001258325:c.-9_-7delinsC,NM_014775:c.-9_-7delinsC,NM_001258327:c.-9_-7delinsC,NM_001007467:c.-9_-7delinsC) SFI1(uc003ald.2:c.-9_-7delinsC,uc003ale.4:c.-9_-7delinsC,uc003alf.4:c.-9_-7delinsC,uc003alg.4:c.-9_-7delinsC,uc011alp.3:c.-9_-7delinsC,uc011alq.3:c.-9_-7delinsC) ENSG00000198089(ENST00000414585:c.-9_-7delinsC,ENST00000443326:c.-9_-7delinsC,ENST00000540643:c.-9_-7delinsC,ENST00000432498:c.-9_-7delinsC,ENST00000443011:c.-9_-7delinsC,ENST00000411518:c.-9_-7delinsC,ENST00000400289:c.-9_-7delinsC,ENST00000444859:c.-9_-7delinsC,ENST00000400288:c.-9_-7delinsC,ENST00000524296:c.-9_-7delinsC);ENSG00000185721(ENST00000548143:c.*18_*20delinsC) Na Na Na Na Na Na Het;-TT 1163;41|32 Hom;-TT 1378;2|54 N N - 22 32445946 32445946 A G snp nonsynonymous SNV A152G N51S polar,hydrophilic,neutral polar,hydrophilic,neutral SLC5A1 Slc5a1 ENSG00000100170 solute carrier family 5 member 1 chr22:32439019-32509016 This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption. Intestinal hexose absorption GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1 https://www.uniprot.org/uniprot/P13866 https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=182380 http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1 rs17683011 0.0211661 0.0511 0.0495 0.38 5 13 exonic exonic exonic SLC5A1 SLC5A1 ENSG00000100170 nonsynonymous SNV nonsynonymous SNV unknown SLC5A1:NM_000343:exon2:c.A152G:p.N51S, SLC5A1:uc003amc.3:exon2:c.A152G:p.N51S, UNKNOWN Het;A>G 444;56|28 Hom;A>G 2198;1|83 N N - 22 32487700 32487700 G A snp nonsynonymous SNV G1231A A411T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral SLC5A1 Slc5a1 ENSG00000100170 solute carrier family 5 member 1 chr22:32439019-32509016 This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption. Intestinal hexose absorption GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1 https://www.uniprot.org/uniprot/P13866 https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=182380 http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1 rs17683430 0.0221645 0.0510 0.0501 0.23 3 13 exonic exonic exonic SLC5A1 SLC5A1 ENSG00000100170 nonsynonymous SNV nonsynonymous SNV unknown SLC5A1:NM_000343:exon11:c.G1231A:p.A411T,SLC5A1:NM_001256314:exon10:c.G850A:p.A284T, SLC5A1:uc003amc.3:exon11:c.G1231A:p.A411T,SLC5A1:uc011alz.2:exon10:c.G850A:p.A284T, UNKNOWN Het;G>A 802;47|40 Hom;G>A 2378;2|92 N N - 22 32506050 32506050 C G snp nonsynonymous SNV C1845G H615Q aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral SLC5A1 Slc5a1 ENSG00000100170 solute carrier family 5 member 1 chr22:32439019-32509016 This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] longevity; Tobacco Use Disorder; Hyperparathyroidism, Secondary Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption. Intestinal hexose absorption GO:0001951;intestinal D-glucose absorption;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0008645;hexose transport;TAS|GO:0015758;glucose transport;IMP|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0005412;glucose:sodium symporter activity;TAS|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC5A1 https://www.uniprot.org/uniprot/P13866 https://hpo.jax.org/app/browse/search?q=SLC5A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=182380 http://www.informatics.jax.org/searchtool/Search.do?query=SLC5A1&submit=Quick%0D%2425ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC5A1 rs33954001 0.0221645 0.0509 0.0500 0.08 1 13 exonic exonic exonic SLC5A1 SLC5A1 ENSG00000100170 nonsynonymous SNV nonsynonymous SNV unknown SLC5A1:NM_000343:exon15:c.C1845G:p.H615Q,SLC5A1:NM_001256314:exon14:c.C1464G:p.H488Q, SLC5A1:uc003amc.3:exon15:c.C1845G:p.H615Q,SLC5A1:uc011alz.2:exon14:c.C1464G:p.H488Q, UNKNOWN Het;C>G 1841;95|52 Hom;C>G 5101;6|129 N N - 22 32589023 32589023 C T snp nonsynonymous SNV G239A C80Y polar,hydrophobic,neutral aromatic,polar,hydrophobic RFPL2 ENSG00000128253 ret finger protein like 2 chr22:32586422-32600718 GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RFPL2 https://www.uniprot.org/uniprot/O75678 https://www.ncbi.nlm.nih.gov/omim/?term=605969 http://www.informatics.jax.org/searchtool/Search.do?query=RFPL2&submit=Quick%0D%6112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFPL2 rs136478 0.367812 0.4676 0.3960 0.09 1 11 exonic exonic exonic RFPL2 RFPL2 ENSG00000128253 nonsynonymous SNV nonsynonymous SNV unknown RFPL2:NM_006605:exon1:c.G239A:p.C80Y,RFPL2:NM_001159545:exon3:c.G152A:p.C51Y,RFPL2:NM_001159546:exon3:c.G152A:p.C51Y,RFPL2:NM_001098527:exon4:c.G422A:p.C141Y, RFPL2:uc003amh.3:exon3:c.G152A:p.C51Y,RFPL2:uc003amg.3:exon4:c.G422A:p.C141Y,RFPL2:uc003amf.3:exon3:c.G152A:p.C51Y,RFPL2:uc003ame.3:exon1:c.G239A:p.C80Y, UNKNOWN Het;C>T 3458;151|155 Hom;C>T 7480;0|260 N N - 22 36556823 36556823 G T snp nonsynonymous SNV C117A S39R polar,hydrophilic,neutral polar,hydrophilic,charged(+) APOL3 Apol11b ENSG00000128284 apolipoprotein L3 chr22:36536372-36562225 This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015] prostate cancer; Hypercholesterolemia|LDLC levels; Tobacco Use Disorder; Hip GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006954;inflammatory response;TAS|GO:0007165;signal transduction;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA GO:0004871;signal transducer activity;IMP|GO:0005319;lipid transporter activity;TAS|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/APOL3 https://www.uniprot.org/uniprot/O95236 https://www.ncbi.nlm.nih.gov/omim/?term=607253 http://www.informatics.jax.org/searchtool/Search.do?query=APOL3&submit=Quick%0D%6120ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL3 rs132653 0.784744 0.7159 0.8306 0.31 4 13 exonic exonic exonic APOL3 APOL3 ENSG00000128284 nonsynonymous SNV nonsynonymous SNV unknown APOL3:NM_145640:exon1:c.C117A:p.S39R, APOL3:uc003aot.3:exon1:c.C117A:p.S39R, UNKNOWN Het;G>T 367;22|18 Hom;G>T 755;0|28 N N - 22 36661330 36661330 G A snp nonsynonymous SNV G448A E150K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) APOL1 Apol11b ENSG00000100342 apolipoprotein L1 chr22:36649056-36663576 This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null Post-translational protein phosphorylation GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/APOL1 https://www.uniprot.org/uniprot/O14791 https://www.ncbi.nlm.nih.gov/omim/?term=603743 http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1 rs2239785 0.678115 0.6529 0.7800 0.23 3 13 exonic exonic exonic APOL1 APOL1 ENSG00000100342 nonsynonymous SNV nonsynonymous SNV unknown APOL1:NM_001136540:exon6:c.G448A:p.E150K,APOL1:NM_003661:exon6:c.G448A:p.E150K,APOL1:NM_145343:exon7:c.G496A:p.E166K,APOL1:NM_001136541:exon5:c.G394A:p.E132K, APOL1:uc011amq.2:exon5:c.G394A:p.E132K,APOL1:uc011amo.2:exon3:c.G79A:p.E27K,APOL1:uc011amn.1:exon7:c.G79A:p.E27K,APOL1:uc011amp.2:exon6:c.G448A:p.E150K,APOL1:uc003apf.3:exon6:c.G448A:p.E150K,APOL1:uc010gwx.3:exon7:c.G79A:p.E27K,APOL1:uc003ape.3:exon7:c.G496A:p.E166K, UNKNOWN Het;G>A 1106;53|53 Hom;G>A 2342;0|85 N N - 22 36661566 36661566 G A snp nonsynonymous SNV G684A M228I hydrophobic,neutral aliphatic,hydrophobic,neutral APOL1 Apol11b ENSG00000100342 apolipoprotein L1 chr22:36649056-36663576 This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null Post-translational protein phosphorylation GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/APOL1 https://www.uniprot.org/uniprot/O14791 https://www.ncbi.nlm.nih.gov/omim/?term=603743 http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1 rs136175 0.864217 0.8469 0.8364 0.08 1 13 exonic exonic exonic APOL1 APOL1 ENSG00000100342 nonsynonymous SNV nonsynonymous SNV unknown APOL1:NM_001136540:exon6:c.G684A:p.M228I,APOL1:NM_003661:exon6:c.G684A:p.M228I,APOL1:NM_145343:exon7:c.G732A:p.M244I,APOL1:NM_001136541:exon5:c.G630A:p.M210I, APOL1:uc011amq.2:exon5:c.G630A:p.M210I,APOL1:uc011amo.2:exon3:c.G315A:p.M105I,APOL1:uc011amn.1:exon7:c.G315A:p.M105I,APOL1:uc011amp.2:exon6:c.G684A:p.M228I,APOL1:uc003apf.3:exon6:c.G684A:p.M228I,APOL1:uc010gwx.3:exon7:c.G315A:p.M105I,APOL1:uc003ape.3:exon7:c.G732A:p.M244I, UNKNOWN Het;G>A 1872;139|94 Hom;G>A 5509;0|190 N N - 22 36661646 36661646 G A snp nonsynonymous SNV G764A R255K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) APOL1 Apol11b ENSG00000100342 apolipoprotein L1 chr22:36649056-36663576 This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; schizophrenia; Schizophrenia; Hypercholesterolemia|LDLC levels; Hypertriglyceridemia; Glomerulosclerosis, Focal Segmental; Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental; African trypanosomiasis, unspecified|Chronic renal failure|Focal segmental glomsclerosis|Glomerulosclerosis, Focal Segmental|Hypertension|Kidney Failure, Chronic|Trypanosomiasis, African; Kidney Disease; Type 2 Diabetes| edema | rosiglitazone; null Post-translational protein phosphorylation GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0019835;cytolysis;IDA|GO:0031640;killing of cells of other organism;IDA|GO:0042157;lipoprotein metabolic process;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IDA|GO:1902476;chloride transmembrane transport;IMP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031224;intrinsic component of membrane;IC|GO:0034361;very-low-density lipoprotein particle;IDA|GO:0034364;high-density lipoprotein particle;IDA|GO:0072562;blood microparticle;IDA GO:0005254;chloride channel activity;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/APOL1 https://www.uniprot.org/uniprot/O14791 https://www.ncbi.nlm.nih.gov/omim/?term=603743 http://www.informatics.jax.org/searchtool/Search.do?query=APOL1&submit=Quick%0D%2484ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APOL1 rs136176 0.86262 0.8490 0.8349 0.08 1 13 exonic exonic exonic APOL1 APOL1 ENSG00000100342 nonsynonymous SNV nonsynonymous SNV unknown APOL1:NM_001136540:exon6:c.G764A:p.R255K,APOL1:NM_003661:exon6:c.G764A:p.R255K,APOL1:NM_145343:exon7:c.G812A:p.R271K,APOL1:NM_001136541:exon5:c.G710A:p.R237K, APOL1:uc011amq.2:exon5:c.G710A:p.R237K,APOL1:uc011amo.2:exon3:c.G395A:p.R132K,APOL1:uc011amn.1:exon7:c.G395A:p.R132K,APOL1:uc011amp.2:exon6:c.G764A:p.R255K,APOL1:uc003apf.3:exon6:c.G764A:p.R255K,APOL1:uc010gwx.3:exon7:c.G395A:p.R132K,APOL1:uc003ape.3:exon7:c.G812A:p.R271K, UNKNOWN Het;G>A 1882;135|92 Hom;G>A 7168;0|252 N N - 22 37271882 37271882 T C snp nonsynonymous SNV T815C L272P aliphatic,hydrophobic,neutral hydrophobic,neutral NCF4 Ncf4 ENSG00000275990 neutrophil cytosolic factor 4 chr22:37257030-37274057 The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Meningeal Neoplasms|meningioma; Dermatitis, Atopic; sarcoidosis tuberculosis; Brain Neoplasms|Occupational Diseases; Crohn Disease|Ileal Diseases; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Colitis, Ulcerative|Crohn Disease|; breast cancer ; Inflammatory Bowel Diseases; Lymphoma, Non-Hodgkin; HIV; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele are viable but show impaired NADPH oxidase responses of neutrophils to a variety of stimuli and defective killing of S. aureus in vitro and in vivo. Homozygotes for a knock-in allele that prevents PtdIns3P binding to thePX domain fail in development prior to E10. RHO GTPases Activate NADPH Oxidases GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006955;immune response;TAS|GO:0016192;vesicle-mediated transport;IBA|GO:0034599;cellular response to oxidative stress;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045454;cell redox homeostasis;TAS|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0055114;oxidation-reduction process;TAS GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IDA|GO:0032010;phagolysosome;TAS|GO:0043020;NADPH oxidase complex;IDA GO:0005086;ARF guanyl-nucleotide exchange factor activity;IBA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0016176;superoxide-generating NADPH oxidase activator activity;IMP|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0035091;phosphatidylinositol binding;IEA|GO:0046983;protein dimerization activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/NCF4 https://www.uniprot.org/uniprot/Q15080 https://hpo.jax.org/app/browse/search?q=NCF4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601488 http://www.informatics.jax.org/searchtool/Search.do?query=NCF4&submit=Quick%0D%21497ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCF4 rs2075939 0.828075 0.8701 0.8337 0.17 2 12 exonic exonic exonic NCF4 NCF4 ENSG00000100365 nonsynonymous SNV nonsynonymous SNV unknown NCF4:NM_013416:exon8:c.T815C:p.L272P, NCF4:uc003apz.4:exon8:c.T815C:p.L272P, UNKNOWN Het;T>C 3103;247|156 Hom;T>C 10607;1|379 N N - 22 37480269 37480269 A G snp nonsynonymous SNV T1262C I421T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral TMPRSS6 Tmprss6 ENSG00000187045 transmembrane protease, serine 6 chr22:37461476-37505603 The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Parkinson Disease; Iron; Peripheral Vascular Diseases; Erythrocyte Indices; null; serum markers of iron status; Abortion, Spontaneous; hemoglobin levels; serum iron concentration; breast cancer; hemoglobin; hematocrit; hematological parameters; mean corpuscular volume; Hypertension; mean corpuscular hemoglobin; iron status and erythrocyte volume; Transferrin; Hematocrit; Hemoglobin A, Glycosylated; Iron-Regulatory Proteins; Iron Deficiency, Inherited; Hemoglobins Homozygosity for an inactivating mutation of this gene results in hair loss over the entire body except the face, microcytic anemia and female infertility, all reversible by dietary iron supplementation. Degradation of the extracellular matrix GO:0000122;negative regulation of transcription from RNA polymerase II promoter;ISS|GO:0001525;angiogenesis;NAS|GO:0006508;proteolysis;IDA|GO:0006879;cellular iron ion homeostasis;ISS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;NAS|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0030574;collagen catabolic process;TAS|GO:0033619;membrane protein proteolysis;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042730;fibrinolysis;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0055072;iron ion homeostasis;IMP|GO:0097264;self proteolysis;IMP GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMPRSS6 https://hpo.jax.org/app/browse/search?q=TMPRSS6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609862 http://www.informatics.jax.org/searchtool/Search.do?query=TMPRSS6&submit=Quick%0D%15765ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMPRSS6 rs2543519 0.247604 0 0.3367 0.11 1 9 intronic exonic exonic TMPRSS6 TMPRSS6 ENSG00000187045 Na nonsynonymous SNV unknown Na TMPRSS6:uc003aqu.3:exon10:c.T1262C:p.I421T, UNKNOWN Het;A>G 80;6|5 Hom;A>G 389;0|12 N N - 22 38119754 38119757 TCAA T indel nonframeshift substitution 1191_1194T TRIOBP Triobp ENSG00000100106 TRIO and F-actin binding protein chr22:38093011-38172563 This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008] Type 2 Diabetes| edema | rosiglitazone; Attention Deficit Disorder with Hyperactivity Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration. GO:0007049;cell cycle;IEA|GO:0030047;actin modification;NAS|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0051016;barbed-end actin filament capping;NAS|GO:0051301;cell division;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030496;midbody;IEA GO:0003779;actin binding;IEA|GO:0017049;GTP-Rho binding;NAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0045159;myosin II binding;NAS|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TRIOBP https://www.uniprot.org/uniprot/Q9H2D6 https://hpo.jax.org/app/browse/search?q=TRIOBP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609761 http://www.informatics.jax.org/searchtool/Search.do?query=TRIOBP&submit=Quick%0D%2408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIOBP rs55745992 0.336262 0.3532 0.3917 1 0 0 exonic exonic exonic TRIOBP TRIOBP ENSG00000100106 nonframeshift substitution nonframeshift substitution unknown TRIOBP:NM_001039141:exon7:c.1191_1194T, TRIOBP:uc003atr.3:exon7:c.1191_1194T,TRIOBP:uc003ats.1:exon5:c.675_678T,TRIOBP:uc003atu.3:exon5:c.675_678T,TRIOBP:uc003atq.1:exon13:c.1191_1194T, UNKNOWN Het;-CAA 572;29|19 Hom;-CAA 2511;0|60 N N - 22 38121152 38121152 C A snp nonsynonymous SNV C2589A N863K polar,hydrophilic,neutral polar,hydrophilic,charged(+) TRIOBP Triobp ENSG00000100106 TRIO and F-actin binding protein chr22:38093011-38172563 This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008] Type 2 Diabetes| edema | rosiglitazone; Attention Deficit Disorder with Hyperactivity Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration. GO:0007049;cell cycle;IEA|GO:0030047;actin modification;NAS|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0051016;barbed-end actin filament capping;NAS|GO:0051301;cell division;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030496;midbody;IEA GO:0003779;actin binding;IEA|GO:0017049;GTP-Rho binding;NAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0045159;myosin II binding;NAS|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TRIOBP https://www.uniprot.org/uniprot/Q9H2D6 https://hpo.jax.org/app/browse/search?q=TRIOBP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609761 http://www.informatics.jax.org/searchtool/Search.do?query=TRIOBP&submit=Quick%0D%2408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIOBP rs9610841 0.336262 0.3464 0.3925 0.25 3 12 exonic exonic exonic TRIOBP TRIOBP ENSG00000100106 nonsynonymous SNV nonsynonymous SNV unknown TRIOBP:NM_001039141:exon7:c.C2589A:p.N863K, TRIOBP:uc003atr.3:exon7:c.C2589A:p.N863K,TRIOBP:uc003ats.1:exon5:c.C2073A:p.N691K,TRIOBP:uc003atu.3:exon5:c.C2073A:p.N691K,TRIOBP:uc003atq.1:exon13:c.C2589A:p.N863K, UNKNOWN Het;C>A 1853;126|92 Hom;C>A 6692;2|245 N N - 22 38122122 38122122 T C snp nonsynonymous SNV T3559C F1187L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TRIOBP Triobp ENSG00000100106 TRIO and F-actin binding protein chr22:38093011-38172563 This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008] Type 2 Diabetes| edema | rosiglitazone; Attention Deficit Disorder with Hyperactivity Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration. GO:0007049;cell cycle;IEA|GO:0030047;actin modification;NAS|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0051016;barbed-end actin filament capping;NAS|GO:0051301;cell division;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030496;midbody;IEA GO:0003779;actin binding;IEA|GO:0017049;GTP-Rho binding;NAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0045159;myosin II binding;NAS|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TRIOBP https://www.uniprot.org/uniprot/Q9H2D6 https://hpo.jax.org/app/browse/search?q=TRIOBP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609761 http://www.informatics.jax.org/searchtool/Search.do?query=TRIOBP&submit=Quick%0D%2408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIOBP rs5756795 0.336661 0.3501 0.3934 0.17 2 12 exonic exonic exonic TRIOBP TRIOBP ENSG00000100106 nonsynonymous SNV nonsynonymous SNV unknown TRIOBP:NM_001039141:exon7:c.T3559C:p.F1187L, TRIOBP:uc003atr.3:exon7:c.T3559C:p.F1187L,TRIOBP:uc003ats.1:exon5:c.T3043C:p.F1015L,TRIOBP:uc003atu.3:exon5:c.T3043C:p.F1015L,TRIOBP:uc003atq.1:exon13:c.T3559C:p.F1187L, UNKNOWN Het;T>C 2011;78|90 Hom;T>C 4317;2|157 N N - 22 38122462 38122462 A G snp nonsynonymous SNV A3899G H1300R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) TRIOBP Triobp ENSG00000100106 TRIO and F-actin binding protein chr22:38093011-38172563 This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008] Type 2 Diabetes| edema | rosiglitazone; Attention Deficit Disorder with Hyperactivity Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration. GO:0007049;cell cycle;IEA|GO:0030047;actin modification;NAS|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0051016;barbed-end actin filament capping;NAS|GO:0051301;cell division;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030496;midbody;IEA GO:0003779;actin binding;IEA|GO:0017049;GTP-Rho binding;NAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0045159;myosin II binding;NAS|GO:0051015;actin filament binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TRIOBP https://www.uniprot.org/uniprot/Q9H2D6 https://hpo.jax.org/app/browse/search?q=TRIOBP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609761 http://www.informatics.jax.org/searchtool/Search.do?query=TRIOBP&submit=Quick%0D%2408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIOBP rs739138 0.601038 0.6310 0.7412 0.17 2 12 exonic exonic exonic TRIOBP TRIOBP ENSG00000100106 nonsynonymous SNV nonsynonymous SNV unknown TRIOBP:NM_001039141:exon7:c.A3899G:p.H1300R, TRIOBP:uc003atr.3:exon7:c.A3899G:p.H1300R,TRIOBP:uc003ats.1:exon5:c.A3383G:p.H1128R,TRIOBP:uc003atu.3:exon5:c.A3383G:p.H1128R,TRIOBP:uc003atq.1:exon13:c.A3899G:p.H1300R, UNKNOWN Het;A>G 1268;23|30 Hom;A>G 1318;1|46 N N - 22 38204089 38204089 C T snp nonsynonymous SNV C115T R39C polar,hydrophilic,charged(+) polar,hydrophobic,neutral GCAT Gcat ENSG00000100116 glycine C-acetyltransferase chr22:38203912-38213183 The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit no gross abnormalities. Threonine catabolism GO:0006520;cellular amino acid metabolic process;NAS|GO:0006567;threonine catabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0009058;biosynthetic process;IEA|GO:0019518;L-threonine catabolic process to glycine;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016607;nuclear speck;IDA GO:0003824;catalytic activity;IEA|GO:0008890;glycine C-acetyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GCAT https://www.uniprot.org/uniprot/O75600 https://www.ncbi.nlm.nih.gov/omim/?term=607422 http://www.informatics.jax.org/searchtool/Search.do?query=GCAT&submit=Quick%0D%2410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCAT rs710187 0.597045 0.5688 0.6307 0.62 8 13 exonic exonic exonic GCAT GCAT ENSG00000100116 nonsynonymous SNV nonsynonymous SNV unknown GCAT:NM_014291:exon1:c.C115T:p.R39C,GCAT:NM_001171690:exon1:c.C115T:p.R39C, GCAT:uc003atz.3:exon1:c.C115T:p.R39C,GCAT:uc003aua.2:exon1:c.C115T:p.R39C, UNKNOWN Het;C>T 675;16|32 Hom;C>T 1424;0|55 N N - 22 38474696 38474696 A G snp nonsynonymous SNV T1214C V405A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLC16A8 Slc16a8 ENSG00000100156 solute carrier family 16 member 8 chr22:38474141-38480100 SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010] Hyperparathyroidism, Secondary Mice homozygous for a knock-out allele exhibit reduced visual function, putatively due to changes in the ionic composition of the outer retina. Pyruvate metabolism GO:0006090;pyruvate metabolic process;TAS|GO:0006810;transport;IEA|GO:0015718;monocarboxylic acid transport;IEA|GO:0015727;lactate transport;TAS|GO:0035873;lactate transmembrane transport;IEA|GO:0050900;leukocyte migration;TAS|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0008028;monocarboxylic acid transmembrane transporter activity;TAS|GO:0015129;lactate transmembrane transporter activity;EXP|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC16A8 https://www.uniprot.org/uniprot/O95907 https://www.ncbi.nlm.nih.gov/omim/?term=610409 http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A8&submit=Quick%0D%2422ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A8 rs2076371 0.810703 0.7953 0.7554 0.15 2 13 exonic exonic exonic SLC16A8 SLC16A8 ENSG00000100156 nonsynonymous SNV nonsynonymous SNV unknown SLC16A8:NM_013356:exon5:c.T1214C:p.V405A, SLC16A8:uc003auu.3:exon5:c.T1214C:p.V405A, UNKNOWN Het;A>G 323;18|14 Hom;A>G 1185;0|42 N N - 22 38485540 38485540 A G snp nonsynonymous SNV T754C C252R polar,hydrophobic,neutral polar,hydrophilic,charged(+) BAIAP2L2 Baiap2l2 ENSG00000128298 BAI1 associated protein 2 like 2 chr22:38480896-38506677 The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012] GO:0007009;plasma membrane organization;IEA|GO:0008286;insulin receptor signaling pathway;IBA|GO:0030838;positive regulation of actin filament polymerization;IBA|GO:0051017;actin filament bundle assembly;IBA|GO:0051764;actin crosslink formation;IBA|GO:0061024;membrane organization;ISS|GO:2000251;positive regulation of actin cytoskeleton reorganization;IBA GO:0005829;cytosol;IBA|GO:0005886;plasma membrane;IEA|GO:0012506;vesicle membrane;IDA|GO:0015629;actin cytoskeleton;IBA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0044291;cell-cell contact zone;IDA|GO:0071439;clathrin complex;IDA GO:0005543;phospholipid binding;ISS|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BAIAP2L2 https://www.uniprot.org/uniprot/Q6UXY1 https://www.ncbi.nlm.nih.gov/omim/?term=617536 http://www.informatics.jax.org/searchtool/Search.do?query=BAIAP2L2&submit=Quick%0D%6123ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BAIAP2L2 rs17856487 0.390775 0 1 0.08 1 12 exonic exonic exonic BAIAP2L2 BAIAP2L2 ENSG00000128298 nonsynonymous SNV nonsynonymous SNV unknown BAIAP2L2:NM_025045:exon8:c.T754C:p.C252R, BAIAP2L2:uc003auw.3:exon8:c.T754C:p.C252R, UNKNOWN Het;A>G 109;5|6 Hom;A>G 156;0|7 N N - 22 39917515 39917515 A C snp nonsynonymous SNV A65C Q22P polar,hydrophilic,neutral hydrophobic,neutral ATF4 Atf4 ENSG00000128272 activating transcription factor 4 chr22:39915700-39918691 This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011] schizophrenia; Schizophrenia; bipolar disorder; Bone Mineral Density; Lithium response Mice homozygous for one knock-out allele exhibit postnatal lethality, abnormal lens development, and reduced male fertility. Mice homozygous for a different knock-out allele exhibit abnormal pancreatic and skeletal development, glucose homeostasis, and insulin homeostasis. ATF6 (ATF6-alpha) activates chaperone genes GO:0006094;gluconeogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;ISS|GO:0006520;cellular amino acid metabolic process;TAS|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007623;circadian rhythm;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IMP|GO:0010628;positive regulation of gene expression;IMP|GO:0032057;negative regulation of translational initiation in response to stress;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0034198;cellular response to amino acid starvation;ISS|GO:0034644;cellular response to UV;ISS|GO:0034976;response to endoplasmic reticulum stress;IMP|GO:0036003;positive regulation of transcription from RNA polymerase II promoter in response to stress;IC|GO:0036091;positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress;IMP|GO:0036499;PERK-mediated unfolded protein response;TAS|GO:0042149;cellular response to glucose starvation;IMP|GO:0042789;mRNA transcription from RNA polymerase II promoter;ISS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043267;negative regulation of potassium ion transport;IEA|GO:0043525;positive regulation of neuron apoptotic process;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045943;positive regulation of transcription from RNA polymerase I promoter;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048511;rhythmic process;IEA|GO:0061395;positive regulation of transcription from RNA polymerase II promoter in response to arsenic-containing substance;TAS|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;ISS|GO:1903204;negative regulation of oxidative stress-induced neuron death;IGI|GO:1903351;cellular response to dopamine;IMP|GO:1990440;positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;IDA|GO:1990737;response to manganese-induced endoplasmic reticulum stress;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0032590;dendrite membrane;IEA|GO:0034399;nuclear periphery;IDA|GO:0043005;neuron projection;IDA|GO:1990037;Lewy body core;IDA|GO:1990589;ATF4-CREB1 transcription factor complex;IDA|GO:1990590;ATF1-ATF4 transcription factor complex;IDA|GO:1990617;CHOP-ATF4 complex;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IC|GO:0001046;core promoter sequence-specific DNA binding;ISS|GO:0001076;transcription factor activity, RNA polymerase II transcription factor binding;IC|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0008134;transcription factor binding;IEA|GO:0043522;leucine zipper domain binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046982;protein heterodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/ATF4 https://www.uniprot.org/uniprot/P18848 https://www.ncbi.nlm.nih.gov/omim/?term=604064 http://www.informatics.jax.org/searchtool/Search.do?query=ATF4&submit=Quick%0D%6116ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATF4 rs4894 0.273762 0.3022 0.3066 0.31 4 13 exonic exonic exonic ATF4 ATF4 ENSG00000128272 nonsynonymous SNV nonsynonymous SNV unknown ATF4:NM_001675:exon1:c.A65C:p.Q22P,ATF4:NM_182810:exon2:c.A65C:p.Q22P, ATF4:uc003aya.3:exon1:c.A65C:p.Q22P,ATF4:uc003axz.3:exon2:c.A65C:p.Q22P, UNKNOWN Het;A>C 664;23|30 Hom;A>C 1389;0|53 N N - 22 42089623 42089623 T C snp nonsynonymous SNV T373C W125R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) C22orf46 4930407I10Rik ENSG00000184208 chromosome 22 open reading frame 46 chr22:42084943-42094140 GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/C22orf46 http://www.informatics.jax.org/searchtool/Search.do?query=C22orf46&submit=Quick%0D%15156ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C22orf46 rs739134 0.795727 0.8338 0.7770 0.27 3 11 exonic exonic exonic C22orf46 C22orf46 ENSG00000184208 nonsynonymous SNV nonsynonymous SNV unknown C22orf46:NM_001142964:exon2:c.T373C:p.W125R, C22orf46:uc003bax.1:exon2:c.T373C:p.W125R, UNKNOWN Het;T>C 1540;109|79 Hom;T>C 5443;0|190 N N - 22 42416056 42416056 A G snp nonsynonymous SNV A362G D121G polar,hydrophilic,charged(-) aliphatic,neutral WBP2NL Wbp2nl ENSG00000183066 WBP2 N-terminal like chr22:42394729-42454460 WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008] Male mice homozygous for a knock-out allele exhibit normal sperm morphology, acrosomal reaction, egg activation and fertility. GO:0007343;egg activation;IEA|GO:0035038;female pronucleus assembly;IEA|GO:0035039;male pronucleus assembly;IEA|GO:0051321;meiotic cell cycle;IEA GO:0033011;perinuclear theca;IEA GO:0050699;WW domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/WBP2NL https://www.ncbi.nlm.nih.gov/omim/?term=610981 http://www.informatics.jax.org/searchtool/Search.do?query=WBP2NL&submit=Quick%0D%14914ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WBP2NL rs133335 0.546126 0.4698 0.4998 0.23 3 13 exonic exonic exonic WBP2NL WBP2NL ENSG00000183066 nonsynonymous SNV nonsynonymous SNV unknown WBP2NL:NM_152613:exon4:c.A362G:p.D121G, WBP2NL:uc003bbt.3:exon4:c.A362G:p.D121G, UNKNOWN Het;A>G 369;38|20 Hom;A>G 874;0|32 N N - 22 42423110 42423110 G C snp nonsynonymous SNV G855C Q285H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) WBP2NL Wbp2nl ENSG00000183066 WBP2 N-terminal like chr22:42394729-42454460 WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008] Male mice homozygous for a knock-out allele exhibit normal sperm morphology, acrosomal reaction, egg activation and fertility. GO:0007343;egg activation;IEA|GO:0035038;female pronucleus assembly;IEA|GO:0035039;male pronucleus assembly;IEA|GO:0051321;meiotic cell cycle;IEA GO:0033011;perinuclear theca;IEA GO:0050699;WW domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/WBP2NL https://www.ncbi.nlm.nih.gov/omim/?term=610981 http://www.informatics.jax.org/searchtool/Search.do?query=WBP2NL&submit=Quick%0D%14914ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WBP2NL rs2301521 0.777756 0.7483 0.7059 0.08 1 12 exonic exonic exonic WBP2NL WBP2NL ENSG00000183066 nonsynonymous SNV nonsynonymous SNV unknown WBP2NL:NM_152613:exon6:c.G855C:p.Q285H, WBP2NL:uc011apk.2:exon4:c.G471C:p.Q157H,WBP2NL:uc003bbt.3:exon6:c.G855C:p.Q285H, UNKNOWN Het;G>C 1723;74|85 Hom;G>C 4482;0|167 N N - 22 42522613 42522613 G C snp nonsynonymous SNV C1457G T486S polar,hydrophilic,neutral polar,hydrophilic,neutral CYP2D6 Cyp2d12 ENSG00000283284 cytochrome P450 family 2 subfamily D member 6 chr22:42522501-42526908 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; Parkinson's disease ; Agitation|Dyskinesia, Drug-Induced|Psychomotor Agitation; Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Squamous cell carcinoma; simvastatin treatment, efficacy and tolerability; arthritis; osteoarthritis; aging; Spondylitis, Ankylosing; Inflammation|Premature Birth; asthma; rhinitis; Autism; 9-Hydroxyrisperidone and Risperidone; fluoxetine pharmacokinetics; breast cancer; postoperative tramadol analgesia; Breast Neoplasms|Venous Thromboembolism; BMI- Edema rosiglitazone or pioglitazone; Basal Ganglia Diseases; fatal drug intoxication; leukemia, adult acute; trimipramine pharmakokinetics; heart rate; risperidone metabolism; Breast Neoplasms|; Anemia, Sickle Cell; typical antipsychotics; Diabetes Mellitus; Neuroleptic Malignant Syndrome; CYP2D6 poor metabolizer phenotype.; lung cancer ; smoking; Multiple Chemical Sensitivity; multiple chemical sensitivity; Alzheimer's Disease; endoxifen; Atrial Fibrillation|Postoperative Complications|Tachycardia; plasma concentrations of carvedilol; personality disorders; Bone Mineral Density; Multiple Myeloma|Neoplasm Recurrence, Local; Hyperlipidemias; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence; Cardiovascular Diseases; neuroleptic malignant syndrome; Muscular Diseases; Basal Ganglia Diseases|; personality; Low Back Pain; Breast Neoplasms|Mammary Neoplasms|Neoplasm Recurrence, Local; Opioid-Related Disorders|Pain; colorectal cancer; essential tremor; Infection|Inflammation|Premature Birth; patent ductus arteriosus; Amphetamine-Related Disorders|Brain Diseases, Metabolic; metoprolol; Breast Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; depression; arthritis; cholesterol, HDL; diabetes, type 2; osteoarthritis; blood pressure, arterial; liver disease; acetaldehyde;; efficacy and tolerability of simvastatin; bladder cancer; flecainide and paroxetine; Drug-Induced Liver Injury; Dyskinesia, Drug-Induced|Parkinsonian Disorders; Dyskinesia, Drug-Induced; HIV infection; CYP2C19 activity; CYP2D6 activitiy; multiple system atrophy; Hypertension|Pregnancy Complications, Cardiovascular; Nausea|Neoplasms|Vomiting; manganism, susceptibility to occupational chronic; CYP2D6 poor metabolizer phenotype; depressive disorder, major; Scleroderma, Diffuse|Scleroderma, Limited|Scleroderma, Systemic; Birth Weight|Fetal Growth Retardation; Amphetamine-Related Disorders; malignant melanoma; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic; schizophrenia; acute lymphocytic leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Porphyrias|porphyrin disorder; Dysmenorrhea; Hepatitis C, Chronic|Liver Cirrhosis; amitriptyline; nortriptyline; head and neck cancer; Asthma|; hypercholesterolemia; H. pylori infection; coagulation disorder; psychiatric disorders; breast cancer ; pharmacogenetic studies; Hypercholesterolemia|LDLC levels; Hypercholesterolemia; Depression, Postpartum|Pregnancy Complications; liver cancer; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; citalopram; diabetes, type 2; preterm delivery; Breast Neoplasms|Mammary Neoplasms; diminished debrisoquine hydroxylase activity; CYP2D6 activitiy; Tuberculosis, Pulmonary; Stomach Neoplasms; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; opioid drug (tramadol) metabolite ratios; cardiovascular disease; Disorders of Excessive Somnolence|Fatigue|Gastrointestinal Diseases|Respiratory Tract Infections|Rhinitis|Urticaria|Xerostomia; Arrhythmias, Cardiac|Ventricular Premature Complexes; acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lewy bodies; anticoagulant complications; treatment response in psychotic patients; Pulmonary Disease, Chronic Obstructive; Alcohol-Related Disorders|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma|Tobacco Use Disorder; haloperidol, plasma; fluvoxamine toxicity; hypertension; Cardiovascular Diseases|Kidney Diseases; Schizophrenia; Body Weight; drug-related genes ; Adenoma|Pituitary Neoplasms; Human Longevity; doxepin metabolism; timolol pharmacokinetics; cervical cancer; phenytoin levels; clomipramine metabolism; Psychophysiologic Disorders; malignant syndrome; leukemia, myeloid; Glaucoma; Breast Neoplasms|Hot Flashes; nomal variation; nephropathy; prostate cancer; Leukemia; Anemia, Sickle Cell|Pain|Sickle cell anemia; macular degeneration; tardive dyskinesia; leukemia, childhood acute lymphoblastic; Parkinson's Disease; cirrhosis, biliary primary; Chromosome Aberrations; Hypertension; Apnea|Opioid-Related Disorders|Pain; Haematological Neoplasias; H. pylori infection; Heart Failure; clozapine; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; Chromosome Aberrations|Chromosome abnormality; Pain, Postoperative|Stomach Neoplasms; Bradycardia|Glaucoma, Open-Angle|Ocular Hypertension; agranulocytosis; ADHD | attention-deficit hyperactivity disorder; liver cancer; liver disease; methadone toxicity; lung cancer; liver cancer; Atrial Fibrillation; Perioperative genomic profiles ; preeclampsia; hypoglycemia; ulcer, gastric; repaglinide pharmacology; coagulation disorder; breast cancer; tamoxifen, prophylactic effect of; drug oxidation; extrapyramidal side effects; atrial fibrillation; amitriptyline metabolism; tamoxifen, metabolism; drug hypersensitivity; HIV Infections; Adenoma|Colorectal Neoplasms; CYP2D7/CYP2D6 poor metabolizer phenotype.; arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response; liver disease; Basal Ganglia Diseases|Dyskinesia, Drug-Induced; Disorder of muscle, unspec|Hypercholesterolemia|Muscular Diseases; tramadol pharmacokinetics; Polycystic Ovary Syndrome; antidepressant medication intolerance.; poor metabolizer of CYP2D6; methamphetamine use; Pain, Postoperative; Manganese Poisoning; Leukemia, Myeloid; Birth Weight|Critical Illness; smoking behavior; Alzheimer's disease ; Coronary Artery Disease|Hypertension; Postoperative Nausea and Vomiting; Heroin Dependence|Substance-Related Disorders; seizures; thrombosis, deep vein; systemic sclerosis; miscarriage; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; normal variation; Gastroparesis; Carcinoma, Basal Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms; null; Precursor Cell Lymphoblastic Leukemia-Lymphoma; lung cancer; dementia with Lewy bodies; citalopram metabolism; Cleft Lip|Cleft Palate; Parkinson's disease; treatment resistance to typical neuroleptics; voriconazole; Nausea; systemic lupus erythematosus; Substance Withdrawal Syndrome; Hyponatremia; plasma concentrations of fluoxetine and paroxetine; multiple sclerosis; major depressive disorder; Lichen Planus, Oral; inflammatory bowel disease ; Type 2 diabetes; Alzheimer's disease; Epilepsy, Tonic-Clonic; Alzheimer's disease|Parkinson's disease; loratadine pharmacokinetics GO:0055114;oxidation-reduction process;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2D6 https://www.ncbi.nlm.nih.gov/omim/?term=124030 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2D6&submit=Quick%0D%22715ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2D6 rs1135840 0.401158 0.4083 0.4556 1 0 0 exonic exonic exonic CYP2D6 CYP2D6 ENSG00000100197 nonsynonymous SNV nonsynonymous SNV unknown CYP2D6:NM_000106:exon9:c.C1457G:p.T486S,CYP2D6:NM_001025161:exon8:c.C1304G:p.T435S, CYP2D6:uc003bce.3:exon9:c.C1457G:p.T486S,CYP2D6:uc010gyu.3:exon7:c.C539G:p.T180S,CYP2D6:uc003bcf.3:exon8:c.C1304G:p.T435S, UNKNOWN Het;G>C 3577;122|96 Hom;G>C 10774;3|312 N N - 22 42523943 42523943 A G snp nonsynonymous SNV T886C C296R polar,hydrophobic,neutral polar,hydrophilic,charged(+) CYP2D6 Cyp2d12 ENSG00000283284 cytochrome P450 family 2 subfamily D member 6 chr22:42522501-42526908 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; Parkinson's disease ; Agitation|Dyskinesia, Drug-Induced|Psychomotor Agitation; Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Squamous cell carcinoma; simvastatin treatment, efficacy and tolerability; arthritis; osteoarthritis; aging; Spondylitis, Ankylosing; Inflammation|Premature Birth; asthma; rhinitis; Autism; 9-Hydroxyrisperidone and Risperidone; fluoxetine pharmacokinetics; breast cancer; postoperative tramadol analgesia; Breast Neoplasms|Venous Thromboembolism; BMI- Edema rosiglitazone or pioglitazone; Basal Ganglia Diseases; fatal drug intoxication; leukemia, adult acute; trimipramine pharmakokinetics; heart rate; risperidone metabolism; Breast Neoplasms|; Anemia, Sickle Cell; typical antipsychotics; Diabetes Mellitus; Neuroleptic Malignant Syndrome; CYP2D6 poor metabolizer phenotype.; lung cancer ; smoking; Multiple Chemical Sensitivity; multiple chemical sensitivity; Alzheimer's Disease; endoxifen; Atrial Fibrillation|Postoperative Complications|Tachycardia; plasma concentrations of carvedilol; personality disorders; Bone Mineral Density; Multiple Myeloma|Neoplasm Recurrence, Local; Hyperlipidemias; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence; Cardiovascular Diseases; neuroleptic malignant syndrome; Muscular Diseases; Basal Ganglia Diseases|; personality; Low Back Pain; Breast Neoplasms|Mammary Neoplasms|Neoplasm Recurrence, Local; Opioid-Related Disorders|Pain; colorectal cancer; essential tremor; Infection|Inflammation|Premature Birth; patent ductus arteriosus; Amphetamine-Related Disorders|Brain Diseases, Metabolic; metoprolol; Breast Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; depression; arthritis; cholesterol, HDL; diabetes, type 2; osteoarthritis; blood pressure, arterial; liver disease; acetaldehyde;; efficacy and tolerability of simvastatin; bladder cancer; flecainide and paroxetine; Drug-Induced Liver Injury; Dyskinesia, Drug-Induced|Parkinsonian Disorders; Dyskinesia, Drug-Induced; HIV infection; CYP2C19 activity; CYP2D6 activitiy; multiple system atrophy; Hypertension|Pregnancy Complications, Cardiovascular; Nausea|Neoplasms|Vomiting; manganism, susceptibility to occupational chronic; CYP2D6 poor metabolizer phenotype; depressive disorder, major; Scleroderma, Diffuse|Scleroderma, Limited|Scleroderma, Systemic; Birth Weight|Fetal Growth Retardation; Amphetamine-Related Disorders; malignant melanoma; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic; schizophrenia; acute lymphocytic leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Porphyrias|porphyrin disorder; Dysmenorrhea; Hepatitis C, Chronic|Liver Cirrhosis; amitriptyline; nortriptyline; head and neck cancer; Asthma|; hypercholesterolemia; H. pylori infection; coagulation disorder; psychiatric disorders; breast cancer ; pharmacogenetic studies; Hypercholesterolemia|LDLC levels; Hypercholesterolemia; Depression, Postpartum|Pregnancy Complications; liver cancer; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; citalopram; diabetes, type 2; preterm delivery; Breast Neoplasms|Mammary Neoplasms; diminished debrisoquine hydroxylase activity; CYP2D6 activitiy; Tuberculosis, Pulmonary; Stomach Neoplasms; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; opioid drug (tramadol) metabolite ratios; cardiovascular disease; Disorders of Excessive Somnolence|Fatigue|Gastrointestinal Diseases|Respiratory Tract Infections|Rhinitis|Urticaria|Xerostomia; Arrhythmias, Cardiac|Ventricular Premature Complexes; acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lewy bodies; anticoagulant complications; treatment response in psychotic patients; Pulmonary Disease, Chronic Obstructive; Alcohol-Related Disorders|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma|Tobacco Use Disorder; haloperidol, plasma; fluvoxamine toxicity; hypertension; Cardiovascular Diseases|Kidney Diseases; Schizophrenia; Body Weight; drug-related genes ; Adenoma|Pituitary Neoplasms; Human Longevity; doxepin metabolism; timolol pharmacokinetics; cervical cancer; phenytoin levels; clomipramine metabolism; Psychophysiologic Disorders; malignant syndrome; leukemia, myeloid; Glaucoma; Breast Neoplasms|Hot Flashes; nomal variation; nephropathy; prostate cancer; Leukemia; Anemia, Sickle Cell|Pain|Sickle cell anemia; macular degeneration; tardive dyskinesia; leukemia, childhood acute lymphoblastic; Parkinson's Disease; cirrhosis, biliary primary; Chromosome Aberrations; Hypertension; Apnea|Opioid-Related Disorders|Pain; Haematological Neoplasias; H. pylori infection; Heart Failure; clozapine; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; Chromosome Aberrations|Chromosome abnormality; Pain, Postoperative|Stomach Neoplasms; Bradycardia|Glaucoma, Open-Angle|Ocular Hypertension; agranulocytosis; ADHD | attention-deficit hyperactivity disorder; liver cancer; liver disease; methadone toxicity; lung cancer; liver cancer; Atrial Fibrillation; Perioperative genomic profiles ; preeclampsia; hypoglycemia; ulcer, gastric; repaglinide pharmacology; coagulation disorder; breast cancer; tamoxifen, prophylactic effect of; drug oxidation; extrapyramidal side effects; atrial fibrillation; amitriptyline metabolism; tamoxifen, metabolism; drug hypersensitivity; HIV Infections; Adenoma|Colorectal Neoplasms; CYP2D7/CYP2D6 poor metabolizer phenotype.; arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response; liver disease; Basal Ganglia Diseases|Dyskinesia, Drug-Induced; Disorder of muscle, unspec|Hypercholesterolemia|Muscular Diseases; tramadol pharmacokinetics; Polycystic Ovary Syndrome; antidepressant medication intolerance.; poor metabolizer of CYP2D6; methamphetamine use; Pain, Postoperative; Manganese Poisoning; Leukemia, Myeloid; Birth Weight|Critical Illness; smoking behavior; Alzheimer's disease ; Coronary Artery Disease|Hypertension; Postoperative Nausea and Vomiting; Heroin Dependence|Substance-Related Disorders; seizures; thrombosis, deep vein; systemic sclerosis; miscarriage; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; normal variation; Gastroparesis; Carcinoma, Basal Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms; null; Precursor Cell Lymphoblastic Leukemia-Lymphoma; lung cancer; dementia with Lewy bodies; citalopram metabolism; Cleft Lip|Cleft Palate; Parkinson's disease; treatment resistance to typical neuroleptics; voriconazole; Nausea; systemic lupus erythematosus; Substance Withdrawal Syndrome; Hyponatremia; plasma concentrations of fluoxetine and paroxetine; multiple sclerosis; major depressive disorder; Lichen Planus, Oral; inflammatory bowel disease ; Type 2 diabetes; Alzheimer's disease; Epilepsy, Tonic-Clonic; Alzheimer's disease|Parkinson's disease; loratadine pharmacokinetics GO:0055114;oxidation-reduction process;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2D6 https://www.ncbi.nlm.nih.gov/omim/?term=124030 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2D6&submit=Quick%0D%22715ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2D6 rs16947 0.640775 0.5996 0.6567 1 0 0 exonic exonic exonic CYP2D6 CYP2D6 ENSG00000100197 nonsynonymous SNV nonsynonymous SNV unknown CYP2D6:NM_000106:exon6:c.T886C:p.C296R,CYP2D6:NM_001025161:exon5:c.T733C:p.C245R, CYP2D6:uc003bce.3:exon6:c.T886C:p.C296R,CYP2D6:uc003bcf.3:exon5:c.T733C:p.C245R, UNKNOWN Het;A>G 1617;103|80 Hom;A>G 6407;2|240 N N - 22 42537597 42537597 A G snp nonsynonymous SNV T662C L221S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral CYP2D7P1 rs1800754 0.496206 0 0.4921 1 0 0 ncRNA_exonic exonic exonic CYP2D7 CYP2D7P1 ENSG00000205702 Na nonsynonymous SNV unknown Na CYP2D7P1:uc003bci.3:exon6:c.T662C:p.L221S,CYP2D7P1:uc010gyv.3:exon4:c.T14C:p.L5S,CYP2D7P1:uc010gyx.1:exon6:c.T662C:p.L221S, UNKNOWN Het;A>G 1953;74|89 Hom;A>G 4383;0|162 N N - 22 42538029 42538029 A G snp nonsynonymous SNV T422C L141P aliphatic,hydrophobic,neutral hydrophobic,neutral CYP2D7P1 rs1058167 0.553315 0 0.6363 1 0 0 ncRNA_exonic exonic exonic CYP2D7 CYP2D7P1 ENSG00000205702 Na nonsynonymous SNV unknown Na CYP2D7P1:uc003bci.3:exon5:c.T422C:p.L141P,CYP2D7P1:uc010gyx.1:exon5:c.T422C:p.L141P, UNKNOWN Het;A>G 1631;120|79 Hom;A>G 4585;1|170 N N - 22 45075738 45075738 T C snp nonsynonymous SNV T59C M20T hydrophobic,neutral polar,hydrophilic,neutral PRR5 Prr5 ENSG00000186654 proline rich 5 chr22:45064593-45133561 This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010] Myocardial Infarction; Tobacco Use Disorder Regulation of TP53 Degradation GO:0001934;positive regulation of protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0031295;T cell costimulation;TAS|GO:0038203;TORC2 signaling;IBA|GO:0048015;phosphatidylinositol-mediated signaling;TAS GO:0005829;cytosol;TAS|GO:0031932;TORC2 complex;IDA http://www.genecards.org/index.php?path=/Search/keyword/PRR5 https://www.ncbi.nlm.nih.gov/omim/?term=609406 http://www.informatics.jax.org/searchtool/Search.do?query=PRR5&submit=Quick%0D%15688ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR5 rs763213 0.703874 0.7020 0.6918 0.20 2 10 exonic exonic exonic PRR5 PRR5 ENSG00000186654 nonsynonymous SNV nonsynonymous SNV unknown PRR5:NM_001198721:exon2:c.T59C:p.M20T, PRR5:uc010gzt.1:exon2:c.T59C:p.M20T, UNKNOWN Het;T>C 1131;92|59 Hom;T>C 3478;0|130 N N - 22 50878196 50878196 G A snp nonsynonymous SNV G2117A R706K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) PPP6R2 Ppp6r2 ENSG00000100239 protein phosphatase 6 regulatory subunit 2 chr22:50781733-50883514 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2 https://www.uniprot.org/uniprot/O75170 https://www.ncbi.nlm.nih.gov/omim/?term=610877 http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2 rs13057311 0.19369 0.2304 0.2447 0.15 2 13 exonic exonic exonic PPP6R2 PPP6R2 ENSG00000100239 nonsynonymous SNV nonsynonymous SNV unknown PPP6R2:NM_001242900:exon19:c.G2117A:p.R706K,PPP6R2:NM_001242899:exon19:c.G2117A:p.R706K,PPP6R2:NM_001242898:exon20:c.G2195A:p.R732K,PPP6R2:NM_014678:exon19:c.G2114A:p.R705K, PPP6R2:uc003blc.3:exon20:c.G2195A:p.R732K,PPP6R2:uc003blb.2:exon21:c.G2195A:p.R732K,PPP6R2:uc003bkz.2:exon19:c.G2114A:p.R705K,PPP6R2:uc003bld.2:exon9:c.G794A:p.R265K,PPP6R2:uc003bky.2:exon19:c.G2117A:p.R706K,PPP6R2:uc003bla.2:exon19:c.G2117A:p.R706K, UNKNOWN Het;G>A 1320;41|64 Hom;G>A 2126;0|83 N N - 22 50987287 50987287 A G snp nonsynonymous SNV A692G Q231R polar,hydrophilic,neutral polar,hydrophilic,charged(+) KLHDC7B Klhdc7b ENSG00000130487 kelch domain containing 7B chr22:50986462-50989451 GO:0016567;protein ubiquitination;IEA GO:0031463;Cul3-RING ubiquitin ligase complex;IBA GO:0004842;ubiquitin-protein transferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KLHDC7B https://www.uniprot.org/uniprot/Q96G42 http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC7B&submit=Quick%0D%6376ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC7B rs5770886 0.420927 0.2443 0.4189 0.31 4 13 exonic exonic exonic KLHDC7B KLHDC7B ENSG00000130487 nonsynonymous SNV nonsynonymous SNV unknown KLHDC7B:NM_138433:exon1:c.A692G:p.Q231R, KLHDC7B:uc003bmi.3:exon1:c.A692G:p.Q231R, UNKNOWN Het;A>G 169;7|6 Hom;A>G 1185;0|39 N N - 22 51011376 51011376 G C snp nonsynonymous SNV C1280G S427C polar,hydrophilic,neutral polar,hydrophobic,neutral CPT1B Cpt1b ENSG00000205560 carnitine palmitoyltransferase 1B chr22:51007290-51017899 The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009] Type 2 Diabetes| edema | rosiglitazone; Diabetes Mellitus, Type 2; Disorders of Excessive Somnolence|; obesity; plasma HDL cholesterol (HDL-C) levels; Acquired Immunodeficiency Syndrome|Disease Progression; Leukemia, Lymphocytic, Chronic, B-Cell; left ventricular hypertrophy; Alzheimer's disease ; BMI- Edema rosiglitazone or pioglitazone; Narcolepsy; narcolepsy Homozygous null mice die in utero prior to E9.5. Heterozygous mutant mice exhibit susceptibility to fatal hypothermia following cold exposure, with females more severely affected. Signaling by Retinoic Acid GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;TAS|GO:0006810;transport;IEA|GO:0006853;carnitine shuttle;TAS|GO:0015909;long-chain fatty acid transport;IEA GO:0005739;mitochondrion;TAS|GO:0005741;mitochondrial outer membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004095;carnitine O-palmitoyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPT1B https://www.ncbi.nlm.nih.gov/omim/?term=601987 http://www.informatics.jax.org/searchtool/Search.do?query=CPT1B&submit=Quick%0D%17532ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPT1B rs8142477 0.422923 0.2687 0.2447 0.15 2 13 exonic exonic exonic CPT1B CHKB-CPT1B,CPT1B ENSG00000205560 nonsynonymous SNV nonsynonymous SNV unknown CPT1B:NM_001145135:exon11:c.C1280G:p.S427C,CPT1B:NM_001145137:exon10:c.C1280G:p.S427C,CPT1B:NM_152246:exon11:c.C1280G:p.S427C,CPT1B:NM_004377:exon11:c.C1280G:p.S427C,CPT1B:NM_152245:exon11:c.C1280G:p.S427C,CPT1B:NM_001145134:exon10:c.C1178G:p.S393C, CPT1B:uc011asa.2:exon10:c.C1178G:p.S393C,CPT1B:uc003bmk.4:exon10:c.C1280G:p.S427C,CPT1B:uc003bmo.3:exon11:c.C1280G:p.S427C,CPT1B:uc003bml.3:exon11:c.C1280G:p.S427C,CHKB-CPT1B:uc003bmp.3:exon13:c.C671G:p.S224C,CPT1B:uc003bmm.3:exon11:c.C1280G:p.S427C,CPT1B:uc003bmn.3:exon11:c.C1280G:p.S427C, UNKNOWN Het;G>C 589;38|32 Hom;G>C 2132;2|77 N N - 2 10262920 10262920 T G snp nonsynonymous SNV T175G S59A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral RRM2 Rrm2 ENSG00000171848 ribonucleotide reductase regulatory subunit M2 chr2:10262455-10271545 This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009] Abortion, Spontaneous Activation of E2F1 target genes at G1/S GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;IEA|GO:0009262;deoxyribonucleotide metabolic process;IEA|GO:0009263;deoxyribonucleotide biosynthetic process;IEA|GO:0015949;nucleobase-containing small molecule interconversion;TAS|GO:0051259;protein oligomerization;IEA|GO:0051290;protein heterotetramerization;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005971;ribonucleoside-diphosphate reductase complex;IEA GO:0004748;ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor;IEA|GO:0005515;protein binding;IPI|GO:0008199;ferric iron binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RRM2 https://www.ncbi.nlm.nih.gov/omim/?term=180390 http://www.informatics.jax.org/searchtool/Search.do?query=RRM2&submit=Quick%0D%13026ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RRM2 rs1130609 0.651757 0.7736 0.7160 0.20 2 10 exonic exonic exonic RRM2 RRM2 ENSG00000171848 nonsynonymous SNV nonsynonymous SNV unknown RRM2:NM_001165931:exon1:c.T175G:p.S59A, RRM2:uc021vdr.1:exon1:c.T175G:p.S59A, UNKNOWN Het;T>G 769;40|38 Hom;T>G 2363;2|87 N N - 2 113498566 113498566 A G snp nonsynonymous SNV T1841C L614S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral CKAP2L Ckap2l ENSG00000169607 cytoskeleton associated protein 2 like chr2:113493930-113522254 The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Endometriosis; Memory, Short-Term; Aggressive Periodontitis|; Alcoholism GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0072686;mitotic spindle;IDA http://www.genecards.org/index.php?path=/Search/keyword/CKAP2L https://hpo.jax.org/app/browse/search?q=CKAP2L&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616174 http://www.informatics.jax.org/searchtool/Search.do?query=CKAP2L&submit=Quick%0D%12528ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP2L rs3811040 0.422524 0.3759 0.4926 0.08 1 13 exonic exonic exonic CKAP2L CKAP2L ENSG00000169607 nonsynonymous SNV nonsynonymous SNV unknown CKAP2L:NM_152515:exon8:c.T1841C:p.L614S,CKAP2L:NM_001304361:exon8:c.T1346C:p.L449S, CKAP2L:uc002tie.2:exon8:c.T1841C:p.L614S,CKAP2L:uc002tif.2:exon9:c.T608C:p.L203S,CKAP2L:uc010yxp.1:exon8:c.T1346C:p.L449S, UNKNOWN Het;A>G 848;63|41 Hom;A>G 2070;0|69 N N - 2 113513825 113513825 T C snp nonsynonymous SNV A1123G I375V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CKAP2L Ckap2l ENSG00000169607 cytoskeleton associated protein 2 like chr2:113493930-113522254 The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Endometriosis; Memory, Short-Term; Aggressive Periodontitis|; Alcoholism GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0072686;mitotic spindle;IDA http://www.genecards.org/index.php?path=/Search/keyword/CKAP2L https://hpo.jax.org/app/browse/search?q=CKAP2L&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616174 http://www.informatics.jax.org/searchtool/Search.do?query=CKAP2L&submit=Quick%0D%12528ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CKAP2L rs6731822 0.963858 0.9402 0.9622 0.08 1 13 exonic exonic exonic CKAP2L CKAP2L ENSG00000169607 nonsynonymous SNV nonsynonymous SNV unknown CKAP2L:NM_152515:exon4:c.A1123G:p.I375V,CKAP2L:NM_001304361:exon4:c.A628G:p.I210V, CKAP2L:uc002tie.2:exon4:c.A1123G:p.I375V,CKAP2L:uc010yxp.1:exon4:c.A628G:p.I210V,CKAP2L:uc010yxq.1:exon3:c.A628G:p.I210V, UNKNOWN Het;T>C 2268;117|104 Hom;T>C 5453;2|191 N N - 2 113674709 113674709 C G snp nonsynonymous SNV C149G P50R hydrophobic,neutral polar,hydrophilic,charged(+) IL37 ENSG00000125571 interleukin 37 chr2:113670548-113676459 The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis Other interleukin signaling GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/IL37 https://www.uniprot.org/uniprot/Q9NZH6 https://www.ncbi.nlm.nih.gov/omim/?term=605510 http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37 rs2708943 0.0760783 0.1092 0.0712 0.25 3 12 exonic exonic exonic IL37 IL37 ENSG00000125571 nonsynonymous SNV nonsynonymous SNV unknown IL37:NM_014439:exon3:c.C149G:p.P50R,IL37:NM_173205:exon2:c.C71G:p.P24R,IL37:NM_173202:exon2:c.C86G:p.P29R, IL37:uc002tik.3:exon2:c.C86G:p.P29R,IL37:uc002tij.3:exon3:c.C149G:p.P50R,IL37:uc002tin.3:exon2:c.C71G:p.P24R, UNKNOWN Het;C>G 389;36|19 Hom;C>G 1753;0|64 N N - 2 113674721 113674721 A G snp nonsynonymous SNV A161G N54S polar,hydrophilic,neutral polar,hydrophilic,neutral IL37 ENSG00000125571 interleukin 37 chr2:113670548-113676459 The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis Other interleukin signaling GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/IL37 https://www.uniprot.org/uniprot/Q9NZH6 https://www.ncbi.nlm.nih.gov/omim/?term=605510 http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37 rs2723183 0.0760783 0.1092 0.0712 0.08 1 13 exonic exonic exonic IL37 IL37 ENSG00000125571 nonsynonymous SNV nonsynonymous SNV unknown IL37:NM_014439:exon3:c.A161G:p.N54S,IL37:NM_173205:exon2:c.A83G:p.N28S,IL37:NM_173202:exon2:c.A98G:p.N33S, IL37:uc002tik.3:exon2:c.A98G:p.N33S,IL37:uc002tij.3:exon3:c.A161G:p.N54S,IL37:uc002tin.3:exon2:c.A83G:p.N28S, UNKNOWN Het;A>G 517;40|26 Hom;A>G 2024;0|68 N N - 2 113675269 113675269 C T snp nonsynonymous SNV C323T P108L hydrophobic,neutral aliphatic,hydrophobic,neutral IL37 ENSG00000125571 interleukin 37 chr2:113670548-113676459 The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis Other interleukin signaling GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/IL37 https://www.uniprot.org/uniprot/Q9NZH6 https://www.ncbi.nlm.nih.gov/omim/?term=605510 http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37 rs2723187 0.0758786 0.1092 0.0721 0.38 5 13 exonic exonic exonic IL37 IL37 ENSG00000125571 nonsynonymous SNV nonsynonymous SNV unknown IL37:NM_014439:exon4:c.C323T:p.P108L,IL37:NM_173203:exon2:c.C140T:p.P47L,IL37:NM_173205:exon3:c.C245T:p.P82L,IL37:NM_173204:exon3:c.C203T:p.P68L,IL37:NM_173202:exon3:c.C260T:p.P87L, IL37:uc002tik.3:exon3:c.C260T:p.P87L,IL37:uc002tij.3:exon4:c.C323T:p.P108L,IL37:uc002tim.3:exon2:c.C140T:p.P47L,IL37:uc002tin.3:exon3:c.C245T:p.P82L,IL37:uc002til.3:exon3:c.C203T:p.P68L, UNKNOWN Het;C>T 663;42|34 Hom;C>T 1398;0|53 N N - 2 113676219 113676219 T C snp nonsynonymous SNV T490C W164R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) IL37 ENSG00000125571 interleukin 37 chr2:113670548-113676459 The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis Other interleukin signaling GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/IL37 https://www.uniprot.org/uniprot/Q9NZH6 https://www.ncbi.nlm.nih.gov/omim/?term=605510 http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37 rs2708947 0.0766773 0.1095 0.0712 0.08 1 13 exonic exonic exonic IL37 IL37 ENSG00000125571 nonsynonymous SNV nonsynonymous SNV unknown IL37:NM_014439:exon5:c.T490C:p.W164R,IL37:NM_173203:exon3:c.T307C:p.W103R,IL37:NM_173205:exon4:c.T412C:p.W138R,IL37:NM_173204:exon4:c.T370C:p.W124R,IL37:NM_173202:exon4:c.T427C:p.W143R, IL37:uc002tik.3:exon4:c.T427C:p.W143R,IL37:uc002tij.3:exon5:c.T490C:p.W164R,IL37:uc002tim.3:exon3:c.T307C:p.W103R,IL37:uc002tin.3:exon4:c.T412C:p.W138R,IL37:uc002til.3:exon4:c.T370C:p.W124R, UNKNOWN Het;T>C 877;65|46 Hom;T>C 3035;2|117 N N - 2 113676381 113676381 G A snp nonsynonymous SNV G652A D218N polar,hydrophilic,charged(-) polar,hydrophilic,neutral IL37 ENSG00000125571 interleukin 37 chr2:113670548-113676459 The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Spondylitis, Ankylosing; Arthritis, Rheumatoid|Rheumatoid Arthritis Other interleukin signaling GO:0006954;inflammatory response;IEA|GO:0006955;immune response;NAS|GO:0019221;cytokine-mediated signaling pathway;IBA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005125;cytokine activity;IEA|GO:0005149;interleukin-1 receptor binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/IL37 https://www.uniprot.org/uniprot/Q9NZH6 https://www.ncbi.nlm.nih.gov/omim/?term=605510 http://www.informatics.jax.org/searchtool/Search.do?query=IL37&submit=Quick%0D%5798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL37 rs2723192 0.0758786 0.1092 0.0719 0.23 3 13 exonic exonic exonic IL37 IL37 ENSG00000125571 nonsynonymous SNV nonsynonymous SNV unknown IL37:NM_014439:exon5:c.G652A:p.D218N,IL37:NM_173203:exon3:c.G469A:p.D157N,IL37:NM_173205:exon4:c.G574A:p.D192N,IL37:NM_173204:exon4:c.G532A:p.D178N,IL37:NM_173202:exon4:c.G589A:p.D197N, IL37:uc002tik.3:exon4:c.G589A:p.D197N,IL37:uc002tij.3:exon5:c.G652A:p.D218N,IL37:uc002tim.3:exon3:c.G469A:p.D157N,IL37:uc002tin.3:exon4:c.G574A:p.D192N,IL37:uc002til.3:exon4:c.G532A:p.D178N, UNKNOWN Het;G>A 380;20|19 Hom;G>A 1022;0|36 N N - 2 113940839 113940839 G C snp nonsynonymous SNV G806C G269A aliphatic,neutral aliphatic,hydrophobic,neutral PSD4 Psd4 ENSG00000125637 pleckstrin and Sec7 domain containing 4 chr2:113914902-113966973 GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0032587;ruffle membrane;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IEA|GO:0005543;phospholipid binding;IEA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSD4 https://www.uniprot.org/uniprot/Q8NDX1 https://www.ncbi.nlm.nih.gov/omim/?term=614442 http://www.informatics.jax.org/searchtool/Search.do?query=PSD4&submit=Quick%0D%5804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD4 rs4849167 0.516973 0.4406 0.4705 0.15 2 13 exonic exonic exonic PSD4 PSD4 ENSG00000125637 nonsynonymous SNV nonsynonymous SNV unknown PSD4:NM_012455:exon2:c.G806C:p.G269A, PSD4:uc002tje.3:exon2:c.G803C:p.G268A,PSD4:uc002tjc.3:exon2:c.G806C:p.G269A, UNKNOWN Het;G>C 1190;80|53 Hom;G>C 2837;0|100 N N - 2 121746956 121746956 G T snp nonsynonymous SNV G3466T A1156S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral GLI2 Gli2 ENSG00000074047 GLI family zinc finger 2 chr2:121493199-121750229 This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008] cleft lip with cleft palate; cleft lip without cleft palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; Alcoholism; Cleft Lip|Cleft Palate; Bone Mineral Density; Erectile Dysfunction; pituitary anomalies and holoprosencephaly-like features.; oral clefts; head and neck cancer Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5. GLI proteins bind promoters of Hh responsive genes to promote transcription GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001501;skeletal system development;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0002076;osteoblast development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007411;axon guidance;IEA|GO:0007418;ventral midline development;IEA|GO:0007442;hindgut morphogenesis;IEA|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021508;floor plate formation;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021915;neural tube development;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021965;spinal cord ventral commissure morphogenesis;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030879;mammary gland development;IEA|GO:0030902;hindbrain development;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;ISS|GO:0035295;tube development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048566;embryonic digestive tract development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048856;anatomical structure development;IEA|GO:0060032;notochord regression;IEA|GO:0060322;head development;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0090103;cochlea morphogenesis;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IEA|GO:0031514;motile cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GLI2 https://www.uniprot.org/uniprot/P10070 https://hpo.jax.org/app/browse/search?q=GLI2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=165230 http://www.informatics.jax.org/searchtool/Search.do?query=GLI2&submit=Quick%0D%1489ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI2 rs3738880 0.508986 0.6234 0.6296 0.08 1 13 exonic exonic exonic GLI2 GLI2 ENSG00000074047 nonsynonymous SNV nonsynonymous SNV unknown GLI2:NM_005270:exon13:c.G3466T:p.A1156S, GLI2:uc002tmu.4:exon10:c.G2431T:p.A811S,GLI2:uc002tmt.4:exon10:c.G2482T:p.A828S,GLI2:uc010flp.3:exon13:c.G3466T:p.A1156S, UNKNOWN Het;G>T 1298;70|63 Hom;G>T 2700;5|100 N N - 2 121747406 121747406 G A snp nonsynonymous SNV G3916A D1306N polar,hydrophilic,charged(-) polar,hydrophilic,neutral GLI2 Gli2 ENSG00000074047 GLI family zinc finger 2 chr2:121493199-121750229 This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008] cleft lip with cleft palate; cleft lip without cleft palate; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; Alzheimer Disease; Chronic renal failure|Kidney Failure, Chronic; Alcoholism; Cleft Lip|Cleft Palate; Bone Mineral Density; Erectile Dysfunction; pituitary anomalies and holoprosencephaly-like features.; oral clefts; head and neck cancer Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5. GLI proteins bind promoters of Hh responsive genes to promote transcription GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001501;skeletal system development;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001822;kidney development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0002076;osteoblast development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007224;smoothened signaling pathway;IDA|GO:0007275;multicellular organism development;IEA|GO:0007389;pattern specification process;IEA|GO:0007411;axon guidance;IEA|GO:0007418;ventral midline development;IEA|GO:0007442;hindgut morphogenesis;IEA|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IDA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009954;proximal/distal pattern formation;IEA|GO:0021508;floor plate formation;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021696;cerebellar cortex morphogenesis;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021915;neural tube development;IEA|GO:0021938;smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation;IEA|GO:0021965;spinal cord ventral commissure morphogenesis;IEA|GO:0021983;pituitary gland development;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030879;mammary gland development;IEA|GO:0030902;hindbrain development;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;ISS|GO:0035295;tube development;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048566;embryonic digestive tract development;IEA|GO:0048589;developmental growth;IEA|GO:0048646;anatomical structure formation involved in morphogenesis;IEA|GO:0048666;neuron development;IEA|GO:0048754;branching morphogenesis of an epithelial tube;IEA|GO:0048856;anatomical structure development;IEA|GO:0060032;notochord regression;IEA|GO:0060322;head development;IEA|GO:0060513;prostatic bud formation;IEA|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0090103;cochlea morphogenesis;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IEA|GO:0031514;motile cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GLI2 https://www.uniprot.org/uniprot/P10070 https://hpo.jax.org/app/browse/search?q=GLI2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=165230 http://www.informatics.jax.org/searchtool/Search.do?query=GLI2&submit=Quick%0D%1489ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLI2 rs12711538 0.567093 0.6769 0.6464 0.08 1 13 exonic exonic exonic GLI2 GLI2 ENSG00000074047 nonsynonymous SNV nonsynonymous SNV unknown GLI2:NM_005270:exon13:c.G3916A:p.D1306N, GLI2:uc002tmu.4:exon10:c.G2881A:p.D961N,GLI2:uc002tmt.4:exon10:c.G2932A:p.D978N,GLI2:uc010flp.3:exon13:c.G3916A:p.D1306N, UNKNOWN Het;G>A 1370;55|41 Hom;G>A 3688;0|92 N N - 2 128321770 128321770 G A snp nonsynonymous SNV G61A G21S aliphatic,neutral polar,hydrophilic,neutral MYO7B Myo7b ENSG00000169994 myosin VIIB chr2:128293378-128395304 Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0030154;cell differentiation;IEA|GO:1904970;brush border assembly;IPI GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0016459;myosin complex;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0090651;apical cytoplasm;ISS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO7B https://www.ncbi.nlm.nih.gov/omim/?term=606541 http://www.informatics.jax.org/searchtool/Search.do?query=MYO7B&submit=Quick%0D%12614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO7B rs2404991 0.395367 0.3999 0.5234 0.23 3 13 exonic exonic exonic MYO7B MYO7B ENSG00000169994 nonsynonymous SNV nonsynonymous SNV unknown MYO7B:NM_001080527:exon3:c.G61A:p.G21S, MYO7B:uc002top.3:exon3:c.G61A:p.G21S, UNKNOWN Het;G>A 1107;72|57 Hom;G>A 2950;2|116 N N - 2 130738163 130738163 G A snp nonsynonymous SNV G475A A159T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral RAB6C Rab6a ENSG00000222014 RAB6C, member RAS oncogene family chr2:130737235-130740311 HIV Infections|[X]Human immunodeficiency virus disease; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage GO:0000278;mitotic cell cycle;IMP|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IBA|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0007264;small GTPase mediated signal transduction;TAS|GO:0010824;regulation of centrosome duplication;IMP|GO:0042147;retrograde transport, endosome to Golgi;IBA|GO:0042493;response to drug;IDA GO:0005622;intracellular;IC|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RAB6C https://www.ncbi.nlm.nih.gov/omim/?term=612909 http://www.informatics.jax.org/searchtool/Search.do?query=RAB6C&submit=Quick%0D%18459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB6C rs4662674 0.577077 0 0.6520 0.17 2 12 exonic exonic exonic RAB6C RAB6C ENSG00000222014 nonsynonymous SNV nonsynonymous SNV unknown RAB6C:NM_032144:exon1:c.G475A:p.A159T, RAB6C:uc002tpx.1:exon1:c.G475A:p.A159T, UNKNOWN Het;G>A 1597;106|79 Hom;G>A 3247;0|123 N N - 2 1481155 1481155 G T snp nonsynonymous SNV G1117T A373S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral TPO Tpo ENSG00000277603 thyroid peroxidase chr2:1377995-1547483 This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011] hypothyroidism; myocardial infarction; Respiratory Function Tests; Hypothyroidism|Thyroid Dysgenesis; Glomerulonephritis, IGA; longevity; hepatitis C; hypothyroidism; atherosclerosis; thyroid cancer; Tobacco Use Disorder Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months. GO:0006590;thyroid hormone generation;IEA|GO:0006979;response to oxidative stress;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004447;iodide peroxidase activity;IEA|GO:0004601;peroxidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0020037;heme binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPO https://hpo.jax.org/app/browse/search?q=TPO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606765 http://www.informatics.jax.org/searchtool/Search.do?query=TPO&submit=Quick%0D%21862ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPO rs2280132 0.408147 0.4069 0.4578 0.08 1 13 exonic exonic exonic TPO TPO ENSG00000115705 nonsynonymous SNV nonsynonymous SNV unknown TPO:NM_000547:exon8:c.G1117T:p.A373S,TPO:NM_001206745:exon8:c.G1117T:p.A373S,TPO:NM_175719:exon8:c.G1117T:p.A373S,TPO:NM_001206744:exon8:c.G1117T:p.A373S,TPO:NM_175721:exon7:c.G1117T:p.A373S, TPO:uc002qwu.3:exon8:c.G1117T:p.A373S,TPO:uc002qww.3:exon8:c.G1117T:p.A373S,TPO:uc002qwr.3:exon8:c.G1117T:p.A373S,TPO:uc002qwx.3:exon8:c.G1117T:p.A373S,TPO:uc010yip.2:exon7:c.G1117T:p.A373S, UNKNOWN Het;G>T 431;16|20 Hom;G>T 1200;0|42 N N - 2 152500449 152500449 C G snp nonsynonymous SNV G7839C K2613N polar,hydrophilic,charged(+) polar,hydrophilic,neutral NEB Neb ENSG00000183091 nebulin chr2:152341850-152591001 This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009] Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity. Striated Muscle Contraction GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS http://www.genecards.org/index.php?path=/Search/keyword/NEB https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=161650 http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB rs13013209 0.293331 0.3498 0.4150 0.62 8 13 exonic exonic exonic NEB NEB ENSG00000183091 nonsynonymous SNV nonsynonymous SNV unknown NEB:NM_001271208:exon57:c.G7839C:p.K2613N,NEB:NM_004543:exon57:c.G7839C:p.K2613N,NEB:NM_001164508:exon57:c.G7839C:p.K2613N,NEB:NM_001164507:exon57:c.G7839C:p.K2613N, NEB:uc010fnx.3:exon57:c.G7839C:p.K2613N,NEB:uc031rpp.1:exon57:c.G7839C:p.K2613N,NEB:uc021vrc.1:exon57:c.G7839C:p.K2613N,NEB:uc021vrd.1:exon57:c.G7839C:p.K2613N,NEB:uc002txu.3:exon57:c.G7839C:p.K2613N,NEB:uc021vrb.1:exon55:c.G7839C:p.K2613N, UNKNOWN Het;C>G 270;8|12 Hom;C>G 1035;0|34 N N - 2 152527572 152527572 C T snp nonsynonymous SNV G4471A V1491M aliphatic,hydrophobic,neutral hydrophobic,neutral NEB Neb ENSG00000183091 nebulin chr2:152341850-152591001 This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009] Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity. Striated Muscle Contraction GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS http://www.genecards.org/index.php?path=/Search/keyword/NEB https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=161650 http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB rs7426114 0.533147 0.6615 0.7386 0.46 6 13 exonic exonic exonic NEB NEB ENSG00000183091 nonsynonymous SNV nonsynonymous SNV unknown NEB:NM_001271208:exon38:c.G4471A:p.V1491M,NEB:NM_004543:exon38:c.G4471A:p.V1491M,NEB:NM_001164508:exon38:c.G4471A:p.V1491M,NEB:NM_001164507:exon38:c.G4471A:p.V1491M, NEB:uc010fnx.3:exon38:c.G4471A:p.V1491M,NEB:uc031rpp.1:exon38:c.G4471A:p.V1491M,NEB:uc021vrc.1:exon38:c.G4471A:p.V1491M,NEB:uc021vrd.1:exon38:c.G4471A:p.V1491M,NEB:uc002txu.3:exon38:c.G4471A:p.V1491M,NEB:uc021vrb.1:exon36:c.G4471A:p.V1491M, UNKNOWN Het;C>T 989;55|51 Hom;C>T 2730;2|97 N N - 2 152531077 152531077 A G snp nonsynonymous SNV T3901C Y1301H aromatic,polar,hydrophobic aromatic,polar,hydrophilic,charged(+) NEB Neb ENSG00000183091 nebulin chr2:152341850-152591001 This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009] Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity. Striated Muscle Contraction GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS http://www.genecards.org/index.php?path=/Search/keyword/NEB https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=161650 http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB rs6711382 0.716054 0.8178 0.8265 0.15 2 13 exonic exonic exonic NEB NEB ENSG00000183091 nonsynonymous SNV nonsynonymous SNV unknown NEB:NM_001271208:exon36:c.T3901C:p.Y1301H,NEB:NM_004543:exon36:c.T3901C:p.Y1301H,NEB:NM_001164508:exon36:c.T3901C:p.Y1301H,NEB:NM_001164507:exon36:c.T3901C:p.Y1301H, NEB:uc010fnx.3:exon36:c.T3901C:p.Y1301H,NEB:uc031rpp.1:exon36:c.T3901C:p.Y1301H,NEB:uc021vrc.1:exon36:c.T3901C:p.Y1301H,NEB:uc021vrd.1:exon36:c.T3901C:p.Y1301H,NEB:uc002txu.3:exon36:c.T3901C:p.Y1301H,NEB:uc021vrb.1:exon34:c.T3901C:p.Y1301H, UNKNOWN Het;A>G 1436;76|69 Hom;A>G 2584;0|92 N N - 2 152536498 152536498 T A snp nonsynonymous SNV A3081T K1027N polar,hydrophilic,charged(+) polar,hydrophilic,neutral NEB Neb ENSG00000183091 nebulin chr2:152341850-152591001 This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009] Type 2 Diabetes| edema | rosiglitazone; Waist-Hip Ratio; Waist Circumference; Body Height Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity. Striated Muscle Contraction GO:0007517;muscle organ development;TAS|GO:0007525;somatic muscle development;NAS|GO:0030049;muscle filament sliding;TAS|GO:0030832;regulation of actin filament length;NAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA|GO:0043292;contractile fiber;IEA|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008307;structural constituent of muscle;TAS http://www.genecards.org/index.php?path=/Search/keyword/NEB https://hpo.jax.org/app/browse/search?q=NEB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=161650 http://www.informatics.jax.org/searchtool/Search.do?query=NEB&submit=Quick%0D%14920ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEB rs6735208 0.583466 0.6986 0.7499 0.38 5 13 exonic exonic exonic NEB NEB ENSG00000183091 nonsynonymous SNV nonsynonymous SNV unknown NEB:NM_001271208:exon31:c.A3081T:p.K1027N,NEB:NM_004543:exon31:c.A3081T:p.K1027N,NEB:NM_001164508:exon31:c.A3081T:p.K1027N,NEB:NM_001164507:exon31:c.A3081T:p.K1027N, NEB:uc010fnx.3:exon31:c.A3081T:p.K1027N,NEB:uc031rpp.1:exon31:c.A3081T:p.K1027N,NEB:uc021vrc.1:exon31:c.A3081T:p.K1027N,NEB:uc021vrd.1:exon31:c.A3081T:p.K1027N,NEB:uc002txu.3:exon31:c.A3081T:p.K1027N,NEB:uc021vrb.1:exon29:c.A3081T:p.K1027N, UNKNOWN Het;T>A 1697;55|76 Hom;T>A 3812;0|135 N N - 2 160676427 160676427 C A snp nonsynonymous SNV G3963T K1321N polar,hydrophilic,charged(+) polar,hydrophilic,neutral LY75 Ly75 ENSG00000054219 lymphocyte antigen 75 chr2:160628362-160761260 Mice homozygous for a knock-out allele display abnormalities in CD8-positive T cell morphology and cytotoxic T cell physiology. GO:0006897;endocytosis;IEA|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007165;signal transduction;IEA GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LY75 https://www.uniprot.org/uniprot/O60449 https://www.ncbi.nlm.nih.gov/omim/?term=604524 http://www.informatics.jax.org/searchtool/Search.do?query=LY75&submit=Quick%0D%970ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LY75 rs12692566 0.845447 0.8487 0.8241 0.17 2 12 exonic exonic exonic LY75,LY75-CD302 LY75,LY75-CD302 ENSG00000054219,ENSG00000248672 nonsynonymous SNV nonsynonymous SNV unknown LY75-CD302:NM_001198759:exon29:c.G3963T:p.K1321N,LY75-CD302:NM_001198760:exon29:c.G3963T:p.K1321N,LY75:NM_002349:exon29:c.G3963T:p.K1321N, LY75-CD302:uc010fos.3:exon29:c.G3963T:p.K1321N,LY75:uc002ubc.4:exon29:c.G3963T:p.K1321N,LY75-CD302:uc002ubb.4:exon29:c.G3963T:p.K1321N, UNKNOWN Het;C>A 871;24|37 Hom;C>A 1504;0|57 N N - 2 163208893 163208893 T G snp nonsynonymous SNV T238G S80A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral GCA Gca ENSG00000115271 grancalcin chr2:163175350-163228105 This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016] multiple sclerosis; Multiple Sclerosis; longevity; Fibrinogen Mice homozygous for disruptions in this gene are essentially normal. However they do demonstrate an increased resistance to endotoxic shock. Neutrophil degranulation GO:0006508;proteolysis;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0061025;membrane fusion;TAS GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004198;calcium-dependent cysteine-type endopeptidase activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCA https://www.uniprot.org/uniprot/P28676 https://www.ncbi.nlm.nih.gov/omim/?term=607030 http://www.informatics.jax.org/searchtool/Search.do?query=GCA&submit=Quick%0D%4572ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCA rs17783344 0.0521166 0.1066 0.1068 0.33 4 12 exonic exonic exonic GCA GCA ENSG00000115271 nonsynonymous SNV nonsynonymous SNV unknown GCA:NM_012198:exon3:c.T238G:p.S80A, GCA:uc002ucg.3:exon3:c.T238G:p.S80A, UNKNOWN Het;T>G 1974;100|97 Hom;T>G 5518;4|211 N N - 2 165476253 165476253 A T snp nonsynonymous SNV T268A F90I aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GRB14 Grb14 ENSG00000115290 growth factor receptor bound protein 14 chr2:165349322-165478358 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Forced Expiratory Volume; Triglycerides; Tobacco Use Disorder; Waist-Hip Ratio; Erythrocyte Count; smoking; Diabetes Mellitus, Type 2 Homozygous mutation of this gene results in improved glucose tolerance, lower circulating insulin levels and increased incorporation of glucose into glycogen in the liver and skeletal muscle of males. Both males and females exhibit a decrease in body size. Tie2 Signaling GO:0007165;signal transduction;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0050900;leukocyte migration;TAS GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0042802;identical protein binding;IMP|GO:0042803;protein homodimerization activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/GRB14 https://www.uniprot.org/uniprot/Q14449 https://www.ncbi.nlm.nih.gov/omim/?term=601524 http://www.informatics.jax.org/searchtool/Search.do?query=GRB14&submit=Quick%0D%4578ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRB14 rs61748245 0.443091 0.5238 0.6060 0.23 3 13 exonic exonic exonic GRB14 GRB14 ENSG00000115290 nonsynonymous SNV nonsynonymous SNV unknown GRB14:NM_004490:exon2:c.T268A:p.F90I, GRB14:uc002ucl.3:exon2:c.T268A:p.F90I, UNKNOWN Het;A>T 983;60|48 Hom;A>T 2583;2|98 N N - 2 166618262 166618262 C T snp splicing 266+1G>A GALNT3 Galnt3 ENSG00000115339 polypeptide N-acetylgalactosaminyltransferase 3 chr2:166604101-166651192 This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008] diabetes, type 1 Mice homozygous for a knock-out allele exhibit decreased circulating alkaline phosphatase, hypercalcemia, hyperphosphatemia, decreased circulating parathyroid hormone, and male specific postnatal growth retardation, infertility, and increase in bone density. O-linked glycosylation of mucins GO:0005975;carbohydrate metabolic process;NAS|GO:0006486;protein glycosylation;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS|GO:0018242;protein O-linked glycosylation via serine;IDA|GO:0018243;protein O-linked glycosylation via threonine;IDA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS|GO:0032580;Golgi cisterna membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030145;manganese ion binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT3 https://www.uniprot.org/uniprot/Q14435 https://hpo.jax.org/app/browse/search?q=GALNT3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601756 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT3&submit=Quick%0D%4587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT3 rs1968294 0.398962 0 0.5273 1 0 0 intronic intronic splicing GALNT3 GALNT3 ENSG00000115339(ENST00000437849:exon4:c.266+1G>A) Na Na Na Na Na Na Het;C>T 55;4|3 Hom;C>T 150;0|5 N N - 2 170003432 170003432 T G snp nonsynonymous SNV A12628C I4210L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral LRP2 Lrp2 ENSG00000081479 LDL receptor related protein 2 chr2:169983619-170219195 The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009] Tobacco Use Disorder; Anorexia Nervosa; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; Alzheimer's disease ; Cholesterol; Alzheimer's disease; Hypercholesterolemia; Hyperlipidemias; Alcoholism; longevity; prostate cancer; cisplatin toxicity; null; Type 2 Diabetes| edema | rosiglitazone; Uric Acid Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality. Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0003281;ventricular septum development;IEA|GO:0006629;lipid metabolic process;TAS|GO:0006766;vitamin metabolic process;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007507;heart development;IEA|GO:0008283;cell proliferation;IEA|GO:0030900;forebrain development;IEA|GO:0035904;aorta development;IEA|GO:0042359;vitamin D metabolic process;TAS|GO:0042953;lipoprotein transport;IEA|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS GO:0005764;lysosome;TAS|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005903;brush border;IEA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030139;endocytic vesicle;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0031526;brush border membrane;IEA|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0042954;lipoprotein transporter activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRP2 https://www.uniprot.org/uniprot/P98164 https://hpo.jax.org/app/browse/search?q=LRP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600073 http://www.informatics.jax.org/searchtool/Search.do?query=LRP2&submit=Quick%0D%1773ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRP2 rs4667591 0.555911 0.6045 0.7176 0.69 9 13 exonic exonic exonic LRP2 LRP2 ENSG00000081479 nonsynonymous SNV nonsynonymous SNV unknown LRP2:NM_004525:exon69:c.A12628C:p.I4210L, LRP2:uc002ues.3:exon69:c.A12628C:p.I4210L, UNKNOWN Het;T>G 1690;79|75 Hom;T>G 3983;0|139 N N - 2 170493103 170493103 T A snp nonsynonymous SNV T1335A D445E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) PPIG Ppig ENSG00000138398 peptidylprolyl isomerase G chr2:170440850-170497916 Autism GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA|GO:0008380;RNA splicing;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016363;nuclear matrix;IEA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IDA|GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016018;cyclosporin A binding;TAS|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPIG https://www.uniprot.org/uniprot/Q13427 https://www.ncbi.nlm.nih.gov/omim/?term=606093 http://www.informatics.jax.org/searchtool/Search.do?query=PPIG&submit=Quick%0D%7723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPIG rs1050354 0.584265 0.6204 0.5724 0.38 5 13 exonic exonic exonic PPIG PPIG ENSG00000138398 nonsynonymous SNV nonsynonymous SNV unknown PPIG:NM_004792:exon14:c.T1335A:p.D445E, PPIG:uc002uez.3:exon14:c.T1335A:p.D445E,PPIG:uc002ufd.3:exon13:c.T1326A:p.D442E,PPIG:uc010fpy.3:exon11:c.T1314A:p.D438E,PPIG:uc002ufb.3:exon14:c.T1335A:p.D445E,PPIG:uc010fpx.3:exon13:c.T1290A:p.D430E, UNKNOWN Het;T>A 538;34|24 Hom;T>A 2103;0|77 N N - 2 171260787 171260787 G A snp nonsynonymous SNV G2308A V770I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MYO3B Myo3b ENSG00000071909 myosin IIIB chr2:171034655-171511681 This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] Tobacco Use Disorder; Hemoglobins; Cholesterol; Body Weight; Body Height GO:0006468;protein phosphorylation;IEA|GO:0007601;visual perception;IEA|GO:0016310;phosphorylation;IEA|GO:0050896;response to stimulus;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0016459;myosin complex;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO3B https://www.uniprot.org/uniprot/Q8WXR4 https://www.ncbi.nlm.nih.gov/omim/?term=610040 http://www.informatics.jax.org/searchtool/Search.do?query=MYO3B&submit=Quick%0D%1410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO3B rs6736609 0.780152 0.8445 0.8507 0.23 3 13 exonic exonic exonic MYO3B MYO3B ENSG00000071909 nonsynonymous SNV nonsynonymous SNV unknown MYO3B:NM_138995:exon20:c.G2308A:p.V770I,MYO3B:NM_001083615:exon20:c.G2308A:p.V770I, MYO3B:uc002ufv.4:exon20:c.G2308A:p.V770I,MYO3B:uc002ufy.3:exon20:c.G2308A:p.V770I,MYO3B:uc002ufz.3:exon20:c.G2308A:p.V770I, UNKNOWN Het;G>A 1187;66|55 Hom;G>A 3871;0|111 N N - 2 172411273 172411273 G A snp nonsynonymous SNV G797A S266N polar,hydrophilic,neutral polar,hydrophilic,neutral CYBRD1 Cybrd1 ENSG00000071967 cytochrome b reductase 1 chr2:172378757-172414643 This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008] null; Coronary Disease|Coronary heart disease|Myocardial Infarction; iron levels; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Abortion, Spontaneous Mice homozygous for a knock-out allele show alterations in liver weight and liver iron content when fed an iron-deficient diet. Iron uptake and transport GO:0006879;cellular iron ion homeostasis;TAS|GO:0010039;response to iron ion;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005765;lysosomal membrane;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0000293;ferric-chelate reductase activity;IDA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016722;oxidoreductase activity, oxidizing metal ions;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYBRD1 https://www.uniprot.org/uniprot/Q53TN4 https://www.ncbi.nlm.nih.gov/omim/?term=605745 http://www.informatics.jax.org/searchtool/Search.do?query=CYBRD1&submit=Quick%0D%1411ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYBRD1 rs10455 0.683107 0.7339 0.6517 0.15 2 13 exonic exonic exonic CYBRD1 CYBRD1 ENSG00000071967 nonsynonymous SNV nonsynonymous SNV unknown CYBRD1:NM_024843:exon4:c.G797A:p.S266N,CYBRD1:NM_001256909:exon4:c.G623A:p.S208N, CYBRD1:uc031rqa.1:exon4:c.G623A:p.S208N,CYBRD1:uc002ugy.4:exon4:c.G797A:p.S266N, UNKNOWN Het;G>A 1023;67|56 Hom;G>A 3042;0|112 N N - 2 185800905 185800905 A T snp nonsynonymous SNV A782T Q261L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ZNF804A Zfp804a ENSG00000170396 zinc finger protein 804A chr2:185463093-185804219 The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015] Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A https://www.ncbi.nlm.nih.gov/omim/?term=612282 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A rs12476147 0.619209 0.5777 0.6448 0.08 1 13 exonic exonic exonic ZNF804A ZNF804A ENSG00000170396 nonsynonymous SNV nonsynonymous SNV unknown ZNF804A:NM_194250:exon4:c.A782T:p.Q261L, ZNF804A:uc002uph.3:exon4:c.A782T:p.Q261L, UNKNOWN Het;A>T 1920;59|85 Hom;A>T 3209;0|118 N N - 2 185801747 185801747 G A snp nonsynonymous SNV G1624A E542K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) ZNF804A Zfp804a ENSG00000170396 zinc finger protein 804A chr2:185463093-185804219 The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015] Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A https://www.ncbi.nlm.nih.gov/omim/?term=612282 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A rs4667001 0.490216 0.4303 0.5776 0.15 2 13 exonic exonic exonic ZNF804A ZNF804A ENSG00000170396 nonsynonymous SNV nonsynonymous SNV unknown ZNF804A:NM_194250:exon4:c.G1624A:p.E542K, ZNF804A:uc002uph.3:exon4:c.G1624A:p.E542K, UNKNOWN Het;G>A 1230;44|58 Hom;G>A 4181;0|95 N N - 2 185802211 185802211 C CACA indel nonframeshift substitution 2088_2088delinsCACA ZNF804A Zfp804a ENSG00000170396 zinc finger protein 804A chr2:185463093-185804219 The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015] Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A https://www.ncbi.nlm.nih.gov/omim/?term=612282 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A rs3046266 0.490415 0.4287 0.5768 1 0 0 exonic exonic exonic ZNF804A ZNF804A ENSG00000170396 nonframeshift substitution nonframeshift substitution unknown ZNF804A:NM_194250:exon4:c.2088_2088delinsCACA, ZNF804A:uc002uph.3:exon4:c.2088_2088delinsCACA, UNKNOWN Het;+ACA 1301;39|34 Hom;+ACA 4020;0|89 N N - 2 185802243 185802243 C A snp nonsynonymous SNV C2120A T707K polar,hydrophilic,neutral polar,hydrophilic,charged(+) ZNF804A Zfp804a ENSG00000170396 zinc finger protein 804A chr2:185463093-185804219 The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015] Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A https://www.ncbi.nlm.nih.gov/omim/?term=612282 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A rs1366842 0.490016 0.4288 0.5777 0.08 1 13 exonic exonic exonic ZNF804A ZNF804A ENSG00000170396 nonsynonymous SNV nonsynonymous SNV unknown ZNF804A:NM_194250:exon4:c.C2120A:p.T707K, ZNF804A:uc002uph.3:exon4:c.C2120A:p.T707K, UNKNOWN Het;C>A 814;41|37 Hom;C>A 3063;0|108 N N - 2 185802363 185802363 A G snp nonsynonymous SNV A2240G H747R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ZNF804A Zfp804a ENSG00000170396 zinc finger protein 804A chr2:185463093-185804219 The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015] Psychosis; null; Tobacco Use Disorder; psychosis; Schizophrenia; schizophrenia GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF804A https://www.ncbi.nlm.nih.gov/omim/?term=612282 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF804A&submit=Quick%0D%12695ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF804A rs12477430 0.704273 0.6846 0.7139 0.08 1 13 exonic exonic exonic ZNF804A ZNF804A ENSG00000170396 nonsynonymous SNV nonsynonymous SNV unknown ZNF804A:NM_194250:exon4:c.A2240G:p.H747R, ZNF804A:uc002uph.3:exon4:c.A2240G:p.H747R, UNKNOWN Het;A>G 1103;77|52 Hom;A>G 3732;0|130 N N - 2 186668714 186668714 A T snp nonsynonymous SNV A14948T K4983I polar,hydrophilic,charged(+) aliphatic,hydrophobic,neutral FSIP2 Fsip2 ENSG00000188738 fibrous sheath interacting protein 2 chr2:186603355-186698017 This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific to spermatogenic cells. Copy number variation in this gene may be associated with testicular germ cell tumors. Pseudogenes associated with this gene are reported on chromosomes 2 and X. [provided by RefSeq, Aug 2016] GO:0005739;mitochondrion;IEA http://www.genecards.org/index.php?path=/Search/keyword/FSIP2 https://hpo.jax.org/app/browse/search?q=FSIP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615796 http://www.informatics.jax.org/searchtool/Search.do?query=FSIP2&submit=Quick%0D%16097ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FSIP2 rs17826419 0.029353 0 0.0572 0.60 6 10 exonic exonic exonic FSIP2 FSIP2 ENSG00000188738 nonsynonymous SNV nonsynonymous SNV unknown FSIP2:NM_173651:exon17:c.A14948T:p.K4983I, FSIP2:uc002upl.3:exon17:c.A14948T:p.K4983I, UNKNOWN Het;A>T 1158;44|54 Hom;A>T 2383;0|88 N N - 2 187559047 187559047 G GCAA indel nonframeshift substitution 147_147delinsGCAA FAM171B Fam171b ENSG00000144369 family with sequence similarity 171 member B chr2:187558698-187630685 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM171B https://www.uniprot.org/uniprot/Q6P995 http://www.informatics.jax.org/searchtool/Search.do?query=FAM171B&submit=Quick%0D%8600ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM171B rs144403657 0.519569 0.5316 0.4639 1 0 0 exonic exonic exonic FAM171B FAM171B ENSG00000144369 nonframeshift substitution nonframeshift substitution unknown FAM171B:NM_177454:exon1:c.147_147delinsGCAA, FAM171B:uc002ups.3:exon1:c.147_147delinsGCAA,FAM171B:uc002upr.1:exon1:c.147_147delinsGCAA, UNKNOWN Het;+CAA 168;32|13 Hom;+CAA 560;0|16 N N - 2 191161622 191161622 T C snp nonsynonymous SNV A136G T46A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral HIBCH Hibch ENSG00000198130 3-hydroxyisobutyryl-CoA hydrolase chr2:191054461-191208919 This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Monocyte Chemoattractant Protein-1; Body Mass Index; HIV Infections|[X]Human immunodeficiency virus disease; Acquired Immunodeficiency Syndrome|Disease Progression Branched-chain amino acid catabolism GO:0006574;valine catabolic process;IEA|GO:0009083;branched-chain amino acid catabolic process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0070062;extracellular exosome;IDA GO:0003860;3-hydroxyisobutyryl-CoA hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HIBCH https://hpo.jax.org/app/browse/search?q=HIBCH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610690 http://www.informatics.jax.org/searchtool/Search.do?query=HIBCH&submit=Quick%0D%16825ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HIBCH rs1058180 0.684305 0.7242 0.7393 0.23 3 13 exonic exonic exonic HIBCH HIBCH ENSG00000198130 nonsynonymous SNV nonsynonymous SNV unknown HIBCH:NM_014362:exon3:c.A136G:p.T46A,HIBCH:NM_198047:exon3:c.A136G:p.T46A, HIBCH:uc002uru.3:exon3:c.A136G:p.T46A,HIBCH:uc002urv.3:exon3:c.A136G:p.T46A, UNKNOWN Het;T>C 1377;95|68 Hom;T>C 4300;0|163 N N - 2 191301368 191301368 A G snp nonsynonymous SNV A613G R205G polar,hydrophilic,charged(+) aliphatic,neutral MFSD6 Mfsd6 ENSG00000151690 major facilitator superfamily domain containing 6 chr2:191273081-191373931 Autism; Tobacco Use Disorder GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MFSD6 https://www.uniprot.org/uniprot/Q6ZSS7 https://www.ncbi.nlm.nih.gov/omim/?term=613476 http://www.informatics.jax.org/searchtool/Search.do?query=MFSD6&submit=Quick%0D%9455ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MFSD6 rs9646748 0.492412 0.4379 0.4853 0.23 3 13 exonic exonic exonic MFSD6 MFSD6 ENSG00000151690 nonsynonymous SNV nonsynonymous SNV unknown MFSD6:NM_017694:exon3:c.A613G:p.R205G, MFSD6:uc002urz.2:exon3:c.A613G:p.R205G, UNKNOWN Het;A>G 2835;117|114 Hom;A>G 5390;0|185 N N - 2 196822004 196822004 A G snp nonsynonymous SNV T3059C I1020T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral DNAH7 Dnah7c ENSG00000118997 dynein axonemal heavy chain 7 chr2:196602427-196933536 DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008] Glomerular Filtration Rate; Creatinine; Tobacco Use Disorder; Neuroblastoma; Body Fat Distribution GO:0003341;cilium movement;IMP|GO:0007018;microtubule-based movement;IEA|GO:0036159;inner dynein arm assembly;IMP|GO:0060285;cilium-dependent cell motility;NAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005858;axonemal dynein complex;NAS|GO:0005874;microtubule;IEA|GO:0005929;cilium;IDA|GO:0030286;dynein complex;IEA|GO:0036156;inner dynein arm;IMP|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005509;calcium ion binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNAH7 https://www.uniprot.org/uniprot/Q8WXX0 https://www.ncbi.nlm.nih.gov/omim/?term=610061 http://www.informatics.jax.org/searchtool/Search.do?query=DNAH7&submit=Quick%0D%5027ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAH7 rs62623378 0.0477236 0.0875 0.0908 0.38 5 13 exonic exonic exonic DNAH7 DNAH7 ENSG00000118997 nonsynonymous SNV nonsynonymous SNV unknown DNAH7:NM_018897:exon19:c.T3059C:p.I1020T, DNAH7:uc002utj.4:exon19:c.T3059C:p.I1020T, UNKNOWN Het;A>G 272;26|15 Hom;A>G 952;2|38 N N - 2 204062061 204062061 A G snp nonsynonymous SNV A6988G I2330V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral NBEAL1 Nbeal1 ENSG00000144426 neurobeachin like 1 chr2:203879602-204091101 Alcoholism http://www.genecards.org/index.php?path=/Search/keyword/NBEAL1 https://www.uniprot.org/uniprot/Q6ZS30 https://www.ncbi.nlm.nih.gov/omim/?term=609816 http://www.informatics.jax.org/searchtool/Search.do?query=NBEAL1&submit=Quick%0D%8606ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NBEAL1 rs4675323 0.860823 0.8938 0.9359 0.23 3 13 exonic exonic exonic NBEAL1 NBEAL1 ENSG00000144426 nonsynonymous SNV nonsynonymous SNV unknown NBEAL1:NM_001114132:exon47:c.A6988G:p.I2330V, NBEAL1:uc002uzt.3:exon47:c.A6988G:p.I2330V, UNKNOWN Het;A>G 360;62|24 Hom;A>G 1958;0|73 N N - 2 204116690 204116690 C T snp nonsynonymous SNV C290T S97L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral CYP20A1 Cyp20a1 ENSG00000119004 cytochrome P450 family 20 subfamily A member 1 chr2:204103663-204163009 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008] Hearing Loss; Body Height; Chronic renal failure|Kidney Failure, Chronic GO:0055114;oxidation-reduction process;IEA GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP20A1 https://www.uniprot.org/uniprot/Q6UW02 http://www.informatics.jax.org/searchtool/Search.do?query=CYP20A1&submit=Quick%0D%5028ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP20A1 rs2043449 0.869409 0.8881 0.9364 0.15 2 13 exonic exonic exonic CYP20A1 CYP20A1 ENSG00000119004 nonsynonymous SNV nonsynonymous SNV unknown CYP20A1:NM_177538:exon4:c.C290T:p.S97L, CYP20A1:uc010zif.2:exon4:c.C290T:p.S97L,CYP20A1:uc002uzv.4:exon4:c.C290T:p.S97L, UNKNOWN Het;C>T 542;45|27 Hom;C>T 2446;0|88 N N - 2 205912403 205912403 T C snp nonsynonymous SNV T494C L165P aliphatic,hydrophobic,neutral hydrophobic,neutral PARD3B Pard3b ENSG00000116117 par-3 family cell polarity regulator beta chr2:205410516-206484886 Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Narcolepsy; Knee osteoarthritis; Tobacco Use Disorder GO:0007049;cell cycle;IEA|GO:0051301;cell division;IEA GO:0005923;bicellular tight junction;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA http://www.genecards.org/index.php?path=/Search/keyword/PARD3B https://www.uniprot.org/uniprot/Q8TEW8 http://www.informatics.jax.org/searchtool/Search.do?query=PARD3B&submit=Quick%0D%4702ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARD3B rs1510765 0.544728 0.6114 0.6182 0.15 2 13 exonic exonic exonic PARD3B PARD3B ENSG00000116117 nonsynonymous SNV nonsynonymous SNV unknown PARD3B:NM_152526:exon4:c.T494C:p.L165P,PARD3B:NM_001302769:exon4:c.T494C:p.L165P,PARD3B:NM_057177:exon4:c.T494C:p.L165P,PARD3B:NM_205863:exon4:c.T494C:p.L165P, PARD3B:uc002vap.2:exon4:c.T494C:p.L165P,PARD3B:uc010fub.2:exon4:c.T494C:p.L165P,PARD3B:uc002var.2:exon4:c.T494C:p.L165P,PARD3B:uc002vaq.2:exon4:c.T494C:p.L165P,PARD3B:uc002vao.2:exon4:c.T494C:p.L165P, UNKNOWN Het;T>C 480;29|22 Hom;T>C 1138;0|43 N N - 2 207169731 207169731 G A snp nonsynonymous SNV G479A R160K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ZDBF2 Zdbf2 ENSG00000283649 zinc finger DBF-type containing 2 chr2:207139387-207179148 This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015] Mice homozygous for a modified isoform encoding allele exhibit impaired methylation of the somatic differentially methylated region of the gene and decreased body weight and size when inherited paternally. GO:0003676;nucleic acid binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZDBF2 https://www.ncbi.nlm.nih.gov/omim/?term=617059 http://www.informatics.jax.org/searchtool/Search.do?query=ZDBF2&submit=Quick%0D%22764ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDBF2 rs10932150 0.405551 0.4602 0.4133 0.08 1 13 exonic exonic exonic ZDBF2 ZDBF2 ENSG00000204186 nonsynonymous SNV nonsynonymous SNV unknown ZDBF2:NM_020923:exon5:c.G479A:p.R160K,ZDBF2:NM_001285549:exon7:c.G473A:p.R158K, ZDBF2:uc031rqy.1:exon7:c.G473A:p.R158K,ZDBF2:uc002vbp.2:exon5:c.G479A:p.R160K, UNKNOWN Het;G>A 1982;108|91 Hom;G>A 4034;0|151 N N - 2 209190632 209190632 T G snp nonsynonymous SNV T3097G S1033A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral PIKFYVE Pikfyve ENSG00000115020 phosphoinositide kinase, FYVE-type zinc finger containing chr2:209130991-209223475 Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010] Fibrinogen; Tobacco Use Disorder; Cholesterol, LDL Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm. Synthesis of PIPs at the late endosome membrane GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0032288;myelin assembly;IEA|GO:0034504;protein localization to nucleus;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046488;phosphatidylinositol metabolic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:1904562;phosphatidylinositol 5-phosphate metabolic process;IC|GO:2000785;regulation of autophagosome assembly;IMP GO:0000139;Golgi membrane;TAS|GO:0005622;intracellular;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IEA|GO:0005911;cell-cell junction;IEA|GO:0010008;endosome membrane;IDA|GO:0012506;vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0031902;late endosome membrane;TAS|GO:0045121;membrane raft;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0000285;1-phosphatidylinositol-3-phosphate 5-kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016301;kinase activity;IEA|GO:0016307;phosphatidylinositol phosphate kinase activity;IEA|GO:0016308;1-phosphatidylinositol-4-phosphate 5-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0043813;phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIKFYVE https://www.uniprot.org/uniprot/Q9Y2I7 https://hpo.jax.org/app/browse/search?q=PIKFYVE&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609414 http://www.informatics.jax.org/searchtool/Search.do?query=PIKFYVE&submit=Quick%0D%4531ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIKFYVE rs999890 0.0990415 0.1412 0.1205 0.23 3 13 exonic exonic exonic PIKFYVE PIKFYVE ENSG00000115020 nonsynonymous SNV nonsynonymous SNV unknown PIKFYVE:NM_015040:exon20:c.T3097G:p.S1033A, PIKFYVE:uc010fun.1:exon19:c.T2140G:p.S714A,PIKFYVE:uc002vcy.1:exon19:c.T2929G:p.S977A,PIKFYVE:uc002vcz.3:exon20:c.T3097G:p.S1033A, UNKNOWN Het;T>G 877;54|42 Hom;T>G 1738;0|62 N N - 2 211060050 211060050 T G snp nonsynonymous SNV A997C K333Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral ACADL Acadl ENSG00000115361 acyl-CoA dehydrogenase, long chain chr2:211052663-211090215 The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008] Nonalcoholic Fatty Liver Disease; serum metabolites; plasma HDL cholesterol (HDL-C) levels; normal variation; Acquired Immunodeficiency Syndrome|Disease Progression; Type 2 Diabetes| edema | rosiglitazone Homozygous mutation of this gene results in reduced litter size, sudden death between 2-14 weeks of age, reduced serum glucose levels, lipid accumulation in the liver and heart, and cardiomyopathy. Heterozygous mutant animals exhibit reduced litter size. Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA GO:0001659;temperature homeostasis;ISS|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;TAS|GO:0008152;metabolic process;IEA|GO:0019254;carnitine metabolic process, CoA-linked;ISS|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IEA|GO:0042413;carnitine catabolic process;ISS|GO:0042758;long-chain fatty acid catabolic process;IEA|GO:0044242;cellular lipid catabolic process;ISS|GO:0045717;negative regulation of fatty acid biosynthetic process;ISS|GO:0046322;negative regulation of fatty acid oxidation;ISS|GO:0051289;protein homotetramerization;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0090181;regulation of cholesterol metabolic process;ISS GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0031966;mitochondrial membrane;IEA GO:0000062;fatty-acyl-CoA binding;IEA|GO:0003995;acyl-CoA dehydrogenase activity;TAS|GO:0004466;long-chain-acyl-CoA dehydrogenase activity;TAS|GO:0016401;palmitoyl-CoA oxidase activity;ISS|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACADL https://www.uniprot.org/uniprot/P28330 https://hpo.jax.org/app/browse/search?q=ACADL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609576 http://www.informatics.jax.org/searchtool/Search.do?query=ACADL&submit=Quick%0D%4591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACADL rs2286963 0.211062 0.2766 0.3011 0.69 9 13 exonic exonic exonic ACADL ACADL ENSG00000115361 nonsynonymous SNV nonsynonymous SNV unknown ACADL:NM_001608:exon9:c.A997C:p.K333Q, ACADL:uc002vdz.4:exon9:c.A997C:p.K333Q, UNKNOWN Het;T>G 1139;50|50 Hom;T>G 2154;1|79 N N - 2 219146803 219146803 G A snp nonsynonymous SNV C62T P21L hydrophobic,neutral aliphatic,hydrophobic,neutral TMBIM1 Tmbim1 ENSG00000135926 transmembrane BAX inhibitor motif containing 1 chr2:219138915-219157309 Mice homozygous for a knock-out allele exhibit susceptibility to cystic medial degeneration without inflammation or change in blood pressure and are prone to aortic dilation with age. Neutrophil degranulation GO:0043086;negative regulation of catalytic activity;ISS|GO:0043312;neutrophil degranulation;TAS|GO:0090005;negative regulation of establishment of protein localization to plasma membrane;IMP|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902045;negative regulation of Fas signaling pathway;IMP|GO:2000504;positive regulation of blood vessel remodeling;ISS GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0010008;endosome membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0005123;death receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TMBIM1 https://www.uniprot.org/uniprot/Q969X1 https://www.ncbi.nlm.nih.gov/omim/?term=610364 http://www.informatics.jax.org/searchtool/Search.do?query=TMBIM1&submit=Quick%0D%7249ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMBIM1 rs2292553 0.449481 0.4105 0.5587 0.23 3 13 exonic exonic exonic TMBIM1 TMBIM1 ENSG00000135926 nonsynonymous SNV nonsynonymous SNV unknown TMBIM1:NM_022152:exon2:c.C62T:p.P21L, TMBIM1:uc002vhp.1:exon2:c.C62T:p.P21L,TMBIM1:uc002vho.1:exon3:c.C62T:p.P21L, UNKNOWN Het;G>A 755;36|40 Hom;G>A 1615;2|63 N N - 2 220100787 220100787 C T snp nonsynonymous SNV C2027T P676L hydrophobic,neutral aliphatic,hydrophobic,neutral ANKZF1 Ankzf1 ENSG00000163516 ankyrin repeat and zinc finger domain containing 1 chr2:220094479-220101391 GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0071630;ubiquitin-dependent catabolism of misfolded proteins by nucleus-associated proteasome;IBA|GO:0072671;mitochondria-associated ubiquitin-dependent protein catabolic process;IBA GO:0016020;membrane;IDA|GO:0036266;Cdc48p-Npl4p-Vms1p AAA ATPase complex;IBA GO:0003676;nucleic acid binding;IEA|GO:0004843;thiol-dependent ubiquitin-specific protease activity;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANKZF1 https://www.ncbi.nlm.nih.gov/omim/?term=617541 http://www.informatics.jax.org/searchtool/Search.do?query=ANKZF1&submit=Quick%0D%10991ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKZF1 rs2293079 0.076278 0.1019 0.1048 0.08 1 13 exonic exonic exonic ANKZF1 ANKZF1 ENSG00000163516 nonsynonymous SNV nonsynonymous SNV unknown ANKZF1:NM_001042410:exon13:c.C2027T:p.P676L,ANKZF1:NM_001282792:exon10:c.C1397T:p.P466L,ANKZF1:NM_018089:exon13:c.C2027T:p.P676L, ANKZF1:uc002vkh.3:exon10:c.C1397T:p.P466L,ANKZF1:uc002vki.3:exon13:c.C2027T:p.P676L,ANKZF1:uc002vkg.3:exon13:c.C2027T:p.P676L, UNKNOWN Het;C>T 1976;89|100 Hom;C>T 3394;0|127 N N - 2 220197321 220197321 C T snp nonsynonymous SNV G157A E53K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) RESP18 Resp18 ENSG00000182698 regulated endocrine specific protein 18 chr2:220192131-220197899 Mice homozygous for a knock-out allele die prior to E9.5. GO:0001701;in utero embryonic development;IEA GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA http://www.genecards.org/index.php?path=/Search/keyword/RESP18 https://www.ncbi.nlm.nih.gov/omim/?term=612721 http://www.informatics.jax.org/searchtool/Search.do?query=RESP18&submit=Quick%0D%14840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RESP18 rs2385405 0.463458 0.4314 0.4077 0.08 1 12 exonic exonic exonic RESP18 RESP18 ENSG00000182698 nonsynonymous SNV nonsynonymous SNV unknown RESP18:NM_001007089:exon2:c.G157A:p.E53K, RESP18:uc002vlc.4:exon2:c.G157A:p.E53K, UNKNOWN Het;C>T 703;44|37 Hom;C>T 1322;0|50 N N - 2 220197388 220197388 C A snp nonsynonymous SNV G90T E30D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) RESP18 Resp18 ENSG00000182698 regulated endocrine specific protein 18 chr2:220192131-220197899 Mice homozygous for a knock-out allele die prior to E9.5. GO:0001701;in utero embryonic development;IEA GO:0005576;extracellular region;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA http://www.genecards.org/index.php?path=/Search/keyword/RESP18 https://www.ncbi.nlm.nih.gov/omim/?term=612721 http://www.informatics.jax.org/searchtool/Search.do?query=RESP18&submit=Quick%0D%14840ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RESP18 rs2385404 0.469649 0.4360 0.4146 0.30 3 10 exonic exonic exonic RESP18 RESP18 ENSG00000182698 nonsynonymous SNV nonsynonymous SNV unknown RESP18:NM_001007089:exon2:c.G90T:p.E30D, RESP18:uc002vlc.4:exon2:c.G90T:p.E30D, UNKNOWN Het;C>A 648;32|33 Hom;C>A 1378;0|52 N N - 2 220502367 220502367 A C snp nonsynonymous SNV A2681C D894A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral SLC4A3 Slc4a3 ENSG00000114923 solute carrier family 4 member 3 chr2:220492049-220506702 The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016] febrile seizures; epilepsy Homozygotes for one knock-out allele show inner retina defects including selective ERG b-wave depression, optic nerve and retinal vessel anomalies, sheathing of retinal vessels and late onset photoreceptor death. Homozygotes for another knock-out allele are more sensitive to seizure-inducing agents. Bicarbonate transporters GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006820;anion transport;IEA|GO:0015698;inorganic anion transport;IEA|GO:0015701;bicarbonate transport;TAS|GO:0051453;regulation of intracellular pH;IBA|GO:0098656;anion transmembrane transport;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA|GO:0005452;inorganic anion exchanger activity;TAS|GO:0008509;anion transmembrane transporter activity;IBA|GO:0015297;antiporter activity;IEA|GO:0015301;anion:anion antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC4A3 https://www.uniprot.org/uniprot/P48751 https://www.ncbi.nlm.nih.gov/omim/?term=106195 http://www.informatics.jax.org/searchtool/Search.do?query=SLC4A3&submit=Quick%0D%4519ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC4A3 rs635311 0.677516 0.6763 0.7442 0.08 1 13 exonic exonic exonic SLC4A3 SLC4A3 ENSG00000114923 nonsynonymous SNV nonsynonymous SNV unknown SLC4A3:NM_201574:exon17:c.A2681C:p.D894A,SLC4A3:NM_005070:exon17:c.A2600C:p.D867A, SLC4A3:uc002vmp.4:exon17:c.A2600C:p.D867A,SLC4A3:uc010fwn.1:exon11:c.A1127C:p.D376A,SLC4A3:uc002vmo.4:exon17:c.A2681C:p.D894A, UNKNOWN Het;A>C 1126;42|55 Hom;A>C 3412;0|124 N N - 2 223917983 223917983 T G snp nonsynonymous SNV T588G D196E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) KCNE4 Kcne4 ENSG00000152049 potassium voltage-gated channel subfamily E regulatory subunit 4 chr2:223916532-224063117 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008] atrial fibrillation; Blood Pressure; Waist Circumference; Acute lymphoblastic leukemia (childhood); Leukemia, Lymphoid; Body Mass Index Phase 2 - plateau phase GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNE4 https://www.uniprot.org/uniprot/Q8WWG9 https://www.ncbi.nlm.nih.gov/omim/?term=607775 http://www.informatics.jax.org/searchtool/Search.do?query=KCNE4&submit=Quick%0D%9496ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNE4 rs12621643 0.670927 0.6438 0.7033 0.20 2 10 exonic exonic exonic KCNE4 KCNE4 ENSG00000152049 nonsynonymous SNV nonsynonymous SNV unknown KCNE4:NM_080671:exon2:c.T588G:p.D196E, KCNE4:uc021vxi.1:exon1:c.T435G:p.D145E,KCNE4:uc002vnl.5:exon2:c.T588G:p.D196E, UNKNOWN Het;T>G 1397;45|60 Hom;T>G 3209;0|120 N N - 2 231042276 231042276 A G snp nonsynonymous SNV T1568C M523T hydrophobic,neutral polar,hydrophilic,neutral SP110 Sp110 ENSG00000135899 SP110 nuclear body protein chr2:231032009-231090444 The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008] Graft vs Host Disease; HIV Infections|[X]Human immunodeficiency virus disease; hepatitis C; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; Waist Circumference; Tuberculosis|Tuberculosis, Pulmonary; Leukemia, Lymphocytic, Chronic, B-Cell; tuberculosis; Chronic lymphocytic leukemia; Hepatitis C|Remission, Spontaneous GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0016032;viral process;IEA GO:0005634;nucleus;TAS GO:0003677;DNA binding;TAS|GO:0004871;signal transducer activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SP110 https://www.uniprot.org/uniprot/Q9HB58 https://hpo.jax.org/app/browse/search?q=SP110&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604457 http://www.informatics.jax.org/searchtool/Search.do?query=SP110&submit=Quick%0D%7236ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SP110 rs1135791 0.32488 0.4175 0.4256 0.08 1 13 exonic exonic exonic SP110 SP110 ENSG00000135899 nonsynonymous SNV nonsynonymous SNV unknown SP110:NM_004509:exon14:c.T1568C:p.M523T,SP110:NM_004510:exon14:c.T1568C:p.M523T,SP110:NM_080424:exon14:c.T1568C:p.M523T,SP110:NM_001185015:exon15:c.T1586C:p.M529T, SP110:uc002vqh.3:exon14:c.T1568C:p.M523T,SP110:uc010fxk.3:exon14:c.T1562C:p.M521T,SP110:uc010fxj.3:exon6:c.T497C:p.M166T,SP110:uc002vqg.3:exon14:c.T1568C:p.M523T,SP110:uc021vxx.1:exon15:c.T1586C:p.M529T,SP110:uc002vqi.4:exon14:c.T1568C:p.M523T, UNKNOWN Het;A>G 1419;91|67 Hom;A>G 4198;0|160 N N - 2 231406680 231406680 T C snp nonsynonymous SNV T2477C M826T hydrophobic,neutral polar,hydrophilic,neutral SP100 Sp100 ENSG00000067066 SP100 nuclear antigen chr2:231280657-231408805 This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011] cleft lip with cleft palate cleft lip without cleft palate cleft palate; Tobacco Use Disorder; longevity; Narcolepsy Interferon gamma signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000723;telomere maintenance;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006978;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;IDA|GO:0010596;negative regulation of endothelial cell migration;IMP|GO:0016032;viral process;IEA|GO:0034340;response to type I interferon;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0043392;negative regulation of DNA binding;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0045185;maintenance of protein location;IDA|GO:0045765;regulation of angiogenesis;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0046826;negative regulation of protein export from nucleus;IMP|GO:0051271;negative regulation of cellular component movement;IMP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060337;type I interferon signaling pathway;IC|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;IMP|GO:1902044;regulation of Fas signaling pathway;IMP GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0016605;PML body;IDA|GO:0030870;Mre11 complex;IDA GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0019900;kinase binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0070087;chromo shadow domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SP100 https://www.uniprot.org/uniprot/P23497 https://www.ncbi.nlm.nih.gov/omim/?term=604585 http://www.informatics.jax.org/searchtool/Search.do?query=SP100&submit=Quick%0D%1240ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SP100 rs836237 0.727436 0.8244 0.7995 0.08 1 12 exonic exonic exonic SP100 SP100 ENSG00000067066 nonsynonymous SNV nonsynonymous SNV unknown SP100:NM_001080391:exon28:c.T2477C:p.M826T, SP100:uc002vqu.1:exon28:c.T2477C:p.M826T,SP100:uc010fxp.1:exon7:c.T431C:p.M144T, UNKNOWN Het;T>C 1208;84|64 Hom;T>C 3142;0|115 N N - 2 233537125 233537125 A G snp nonsynonymous SNV A557G K186R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) EFHD1 Efhd1 ENSG00000115468 EF-hand domain family member D1 chr2:233470767-233547491 This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Acquired Immunodeficiency Syndrome|Disease Progression GO:0031175;neuron projection development;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFHD1 https://www.uniprot.org/uniprot/Q9BUP0 https://www.ncbi.nlm.nih.gov/omim/?term=611617 http://www.informatics.jax.org/searchtool/Search.do?query=EFHD1&submit=Quick%0D%4609ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFHD1 rs11550699 0.346446 0.3062 0.3797 0.08 1 13 exonic exonic exonic EFHD1 EFHD1 ENSG00000115468 nonsynonymous SNV nonsynonymous SNV unknown EFHD1:NM_025202:exon3:c.A557G:p.K186R,EFHD1:NM_001243252:exon3:c.A269G:p.K90R, EFHD1:uc002vtc.3:exon3:c.A557G:p.K186R,EFHD1:uc010fyf.3:exon3:c.A269G:p.K90R,EFHD1:uc002vtd.3:exon2:c.A221G:p.K74R, UNKNOWN Het;A>G 843;67|40 Hom;A>G 2403;0|86 N N - 2 233633460 233633460 G A snp nonsynonymous SNV C284T T95I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral KCNJ13 Kcnj13 ENSG00000115474 potassium voltage-gated channel subfamily J member 13 chr2:233631174-233641278 This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] Celiac Disease| Homozygous mutant null mice die shortly after birth, exhibit cleft palate and pulmonary abnormalities in embryonic lungs. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005242;inward rectifier potassium channel activity;NAS|GO:0005244;voltage-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNJ13 https://www.uniprot.org/uniprot/O60928 https://hpo.jax.org/app/browse/search?q=KCNJ13&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603208 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ13&submit=Quick%0D%4610ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ13 rs1801251 0.360024 0.3213 0.3548 0.15 2 13 exonic exonic exonic KCNJ13 KCNJ13 ENSG00000115474 nonsynonymous SNV nonsynonymous SNV unknown KCNJ13:NM_001172417:exon3:c.C284T:p.T95I,KCNJ13:NM_002242:exon3:c.C524T:p.T175I, KCNJ13:uc002vto.3:exon2:c.C524T:p.T175I,KCNJ13:uc021vyk.1:exon3:c.C284T:p.T95I,KCNJ13:uc002vtp.3:exon3:c.C524T:p.T175I, UNKNOWN Het;G>A 1280;59|63 Hom;G>A 3252;0|121 N N - 2 233899126 233899126 C A snp nonsynonymous SNV C502A H168N aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral NEU2 Neu2 ENSG00000115488 neuraminidase 2 chr2:233897382-233899767 This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008] longevity; Forced Vital Capacity Sialic acid metabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006689;ganglioside catabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;IDA|GO:0016042;lipid catabolic process;IEA|GO:0051692;cellular oligosaccharide catabolic process;IDA GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IBA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:1902494;catalytic complex;IDA GO:0004308;exo-alpha-sialidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0052794;exo-alpha-(2->3)-sialidase activity;IDA|GO:0052795;exo-alpha-(2->6)-sialidase activity;IEA|GO:0052796;exo-alpha-(2->8)-sialidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEU2 https://www.uniprot.org/uniprot/Q9Y3R4 https://www.ncbi.nlm.nih.gov/omim/?term=605528 http://www.informatics.jax.org/searchtool/Search.do?query=NEU2&submit=Quick%0D%4613ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEU2 rs2233391 0.232029 0.3884 0.3765 0.23 3 13 exonic exonic exonic NEU2 NEU2 ENSG00000115488 nonsynonymous SNV nonsynonymous SNV unknown NEU2:NM_005383:exon2:c.C502A:p.H168N, NEU2:uc010zmn.2:exon2:c.C502A:p.H168N, UNKNOWN Het;C>A 2611;157|132 Hom;C>A 6625;4|249 N N - 2 234725502 234725502 T C snp nonsynonymous SNV T2941C W981R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) MROH2A Mroh2a ENSG00000185038 maestro heat like repeat family member 2A chr2:234684370-234742069 This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016] Tobacco Use Disorder; Depressive Disorder, Major; Bilirubin http://www.genecards.org/index.php?path=/Search/keyword/MROH2A http://www.informatics.jax.org/searchtool/Search.do?query=MROH2A&submit=Quick%0D%15328ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2A rs726016 0.828874 0 0.8513 0.10 1 10 exonic intergenic exonic MROH2A DQ655968(dist=37074),HEATR7B1(dist=11699) ENSG00000185038 nonsynonymous SNV Na unknown MROH2A:NM_001287395:exon27:c.T2941C:p.W981R, Na UNKNOWN Het;T>C 570;36|28 Hom;T>C 1567;0|58 N N - 2 234728078 234728078 T C snp nonsynonymous SNV T3329C F1110S aromatic,hydrophobic,neutral polar,hydrophilic,neutral MROH2A Mroh2a ENSG00000185038 maestro heat like repeat family member 2A chr2:234684370-234742069 This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016] Tobacco Use Disorder; Depressive Disorder, Major; Bilirubin http://www.genecards.org/index.php?path=/Search/keyword/MROH2A http://www.informatics.jax.org/searchtool/Search.do?query=MROH2A&submit=Quick%0D%15328ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2A rs1500480 0.825879 0 0.8424 0.09 1 11 exonic intergenic exonic MROH2A DQ655968(dist=39650),HEATR7B1(dist=9123) ENSG00000185038 nonsynonymous SNV Na unknown MROH2A:NM_001287395:exon30:c.T3329C:p.F1110S, Na UNKNOWN Het;T>C 843;53|42 Hom;T>C 1755;0|63 N N - 2 234750542 234750542 G C snp nonsynonymous SNV C629G S210C polar,hydrophilic,neutral polar,hydrophobic,neutral HJURP Hjurp ENSG00000123485 Holliday junction recognition protein chr2:234742062-234763212 Deposition of new CENPA-containing nucleosomes at the centromere GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043254;regulation of protein complex assembly;IDA|GO:0051101;regulation of DNA binding;IDA GO:0000775;chromosome, centromeric region;IDA|GO:0000777;condensed chromosome kinetochore;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HJURP https://www.uniprot.org/uniprot/Q8NCD3 https://www.ncbi.nlm.nih.gov/omim/?term=612667 http://www.informatics.jax.org/searchtool/Search.do?query=HJURP&submit=Quick%0D%5533ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HJURP rs3732215 0.349641 0.4074 0.4694 0.08 1 13 exonic exonic exonic HJURP HJURP ENSG00000123485 nonsynonymous SNV nonsynonymous SNV unknown HJURP:NM_001282963:exon5:c.C629G:p.S210C,HJURP:NM_018410:exon8:c.C884G:p.S295C,HJURP:NM_001282962:exon6:c.C722G:p.S241C, HJURP:uc002vvg.3:exon8:c.C884G:p.S295C,HJURP:uc010znd.2:exon6:c.C701G:p.S234C,HJURP:uc010zne.2:exon5:c.C608G:p.S203C, UNKNOWN Het;G>C 1025;80|49 Hom;G>C 3516;0|124 N N - 2 234750831 234750831 T C snp nonsynonymous SNV A340G R114G polar,hydrophilic,charged(+) aliphatic,neutral HJURP Hjurp ENSG00000123485 Holliday junction recognition protein chr2:234742062-234763212 Deposition of new CENPA-containing nucleosomes at the centromere GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043254;regulation of protein complex assembly;IDA|GO:0051101;regulation of DNA binding;IDA GO:0000775;chromosome, centromeric region;IDA|GO:0000777;condensed chromosome kinetochore;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HJURP https://www.uniprot.org/uniprot/Q8NCD3 https://www.ncbi.nlm.nih.gov/omim/?term=612667 http://www.informatics.jax.org/searchtool/Search.do?query=HJURP&submit=Quick%0D%5533ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HJURP rs3806589 0.711661 0.6668 0.6395 0.08 1 13 exonic exonic exonic HJURP HJURP ENSG00000123485 nonsynonymous SNV nonsynonymous SNV unknown HJURP:NM_001282963:exon5:c.A340G:p.R114G,HJURP:NM_018410:exon8:c.A595G:p.R199G,HJURP:NM_001282962:exon6:c.A433G:p.R145G, HJURP:uc002vvg.3:exon8:c.A595G:p.R199G,HJURP:uc010znd.2:exon6:c.A412G:p.R138G,HJURP:uc010zne.2:exon5:c.A319G:p.R107G, UNKNOWN Het;T>C 923;52|39 Hom;T>C 2339;0|87 N N - 2 234761225 234761225 C T snp nonsynonymous SNV G226A E76K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) HJURP Hjurp ENSG00000123485 Holliday junction recognition protein chr2:234742062-234763212 Deposition of new CENPA-containing nucleosomes at the centromere GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0043254;regulation of protein complex assembly;IDA|GO:0051101;regulation of DNA binding;IDA GO:0000775;chromosome, centromeric region;IDA|GO:0000777;condensed chromosome kinetochore;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042393;histone binding;IDA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HJURP https://www.uniprot.org/uniprot/Q8NCD3 https://www.ncbi.nlm.nih.gov/omim/?term=612667 http://www.informatics.jax.org/searchtool/Search.do?query=HJURP&submit=Quick%0D%5533ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HJURP rs2286430 0.346046 0.3930 0.4553 0.08 1 13 exonic exonic exonic HJURP HJURP ENSG00000123485 nonsynonymous SNV nonsynonymous SNV unknown HJURP:NM_001282963:exon3:c.G226A:p.E76K,HJURP:NM_018410:exon3:c.G226A:p.E76K,HJURP:NM_001282962:exon3:c.G226A:p.E76K, HJURP:uc002vvg.3:exon3:c.G226A:p.E76K,HJURP:uc010znd.2:exon3:c.G205A:p.E69K,HJURP:uc010zne.2:exon3:c.G205A:p.E69K, UNKNOWN Het;C>T 492;57|28 Hom;C>T 1754;0|69 2_252.744_266.744 Chr2:235528138-241561721 0.223 2 238262021 238262021 G A snp nonsynonymous SNV C6035T P2012L hydrophobic,neutral aliphatic,hydrophobic,neutral COL6A3 Col6a3 ENSG00000163359 collagen type VI alpha 3 chain chr2:238232646-238323018 This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009] hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology. Collagen chain trimerization GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL6A3 https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120250 http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3 rs36117715 0.0740815 0.0830 0.0455 0.31 4 13 exonic exonic exonic COL6A3 COL6A3 ENSG00000163359 nonsynonymous SNV nonsynonymous SNV unknown COL6A3:NM_057167:exon24:c.C6035T:p.P2012L,COL6A3:NM_004369:exon25:c.C6653T:p.P2218L,COL6A3:NM_057166:exon22:c.C4832T:p.P1611L, COL6A3:uc002vwo.2:exon24:c.C6035T:p.P2012L,COL6A3:uc002vwl.2:exon25:c.C6653T:p.P2218L,COL6A3:uc002vwp.1:exon2:c.C116T:p.P39L,COL6A3:uc010znj.1:exon22:c.C4832T:p.P1611L, UNKNOWN Het;G>A 2408;101|117 Hom;G>A 5319;4|201 2_252.744_266.744 Chr2:235528138-241561721 0.223 2 239039057 239039057 A G snp nonsynonymous SNV A1702G I568V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ESPNL Espnl ENSG00000144488 espin like chr2:239008798-239041928 GO:0051017;actin filament bundle assembly;IBA GO:0005737;cytoplasm;IBA|GO:0031941;filamentous actin;IBA GO:0051015;actin filament binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ESPNL https://www.uniprot.org/uniprot/Q6ZVH7 http://www.informatics.jax.org/searchtool/Search.do?query=ESPNL&submit=Quick%0D%8615ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ESPNL rs13033248 0.394569 0.3828 0.4479 0.08 1 12 exonic exonic exonic ESPNL ESPNL ENSG00000144488 nonsynonymous SNV nonsynonymous SNV unknown ESPNL:NM_194312:exon9:c.A1702G:p.I568V, ESPNL:uc002vxq.4:exon9:c.A1702G:p.I568V,ESPNL:uc031rsa.1:exon4:c.A598G:p.I200V,ESPNL:uc010fyw.3:exon5:c.A790G:p.I264V, UNKNOWN Het;A>G 524;32|16 Hom;A>G 1849;0|50 2_252.744_266.744 Chr2:235528138-241561721 0.223 2 239039075 239039075 G T snp nonsynonymous SNV G1720T A574S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ESPNL Espnl ENSG00000144488 espin like chr2:239008798-239041928 GO:0051017;actin filament bundle assembly;IBA GO:0005737;cytoplasm;IBA|GO:0031941;filamentous actin;IBA GO:0051015;actin filament binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ESPNL https://www.uniprot.org/uniprot/Q6ZVH7 http://www.informatics.jax.org/searchtool/Search.do?query=ESPNL&submit=Quick%0D%8615ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ESPNL rs13006204 0.390176 0.3792 0.4480 0.08 1 13 exonic exonic exonic ESPNL ESPNL ENSG00000144488 nonsynonymous SNV nonsynonymous SNV unknown ESPNL:NM_194312:exon9:c.G1720T:p.A574S, ESPNL:uc002vxq.4:exon9:c.G1720T:p.A574S,ESPNL:uc031rsa.1:exon4:c.G616T:p.A206S,ESPNL:uc010fyw.3:exon5:c.G808T:p.A270S, UNKNOWN Het;G>T 618;26|20 Hom;G>T 1412;0|31 2_252.744_266.744 Chr2:235528138-241561721 0.223 2 239039841 239039841 A G snp nonsynonymous SNV A2486G Q829R polar,hydrophilic,neutral polar,hydrophilic,charged(+) ESPNL Espnl ENSG00000144488 espin like chr2:239008798-239041928 GO:0051017;actin filament bundle assembly;IBA GO:0005737;cytoplasm;IBA|GO:0031941;filamentous actin;IBA GO:0051015;actin filament binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ESPNL https://www.uniprot.org/uniprot/Q6ZVH7 http://www.informatics.jax.org/searchtool/Search.do?query=ESPNL&submit=Quick%0D%8615ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ESPNL rs10172220 0.530551 0.4429 0.5414 0.08 1 13 exonic exonic exonic ESPNL ESPNL ENSG00000144488 nonsynonymous SNV nonsynonymous SNV unknown ESPNL:NM_194312:exon9:c.A2486G:p.Q829R, ESPNL:uc002vxq.4:exon9:c.A2486G:p.Q829R,ESPNL:uc031rsa.1:exon4:c.A1382G:p.Q461R,ESPNL:uc010fyw.3:exon5:c.A1574G:p.Q525R, UNKNOWN Het;A>G 593;19|28 Hom;A>G 1676;1|61 2_252.744_266.744 Chr2:235528138-241561721 0.223 2 239049540 239049540 G A snp nonsynonymous SNV G145A G49S aliphatic,neutral polar,hydrophilic,neutral KLHL30 Klhl30 ENSG00000168427 kelch like family member 30 chr2:239047363-239061588 GO:0016567;protein ubiquitination;IEA GO:0031463;Cul3-RING ubiquitin ligase complex;IBA GO:0004842;ubiquitin-protein transferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KLHL30 http://www.informatics.jax.org/searchtool/Search.do?query=KLHL30&submit=Quick%0D%12267ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL30 rs2241985 0.386382 0.3876 0.4077 0.08 1 13 exonic exonic exonic KLHL30 KLHL30 ENSG00000168427 nonsynonymous SNV nonsynonymous SNV unknown KLHL30:NM_198582:exon2:c.G145A:p.G49S, KLHL30:uc002vxr.2:exon2:c.G145A:p.G49S, UNKNOWN Het;G>A 1636;55|78 Hom;G>A 2578;0|95 2_252.744_266.744 Chr2:235528138-241561721 0.223 2 241390516 241390516 C T snp nonsynonymous SNV G53A R18Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral PP14571 rs3828336 0.211861 0 0.2941 1 0 0 ncRNA_exonic exonic ncRNA_exonic PP14571 PP14571 ENSG00000255735 Na nonsynonymous SNV Na Na PP14571:uc002vyy.1:exon2:c.G53A:p.R18Q, Na Het;C>T 2405;107|104 Hom;C>T 6363;2|230 2_252.744_266.744 Chr2:235528138-241561721 0.223 2 241405528 241405528 A G snp nonsynonymous SNV A1498G S500G polar,hydrophilic,neutral aliphatic,neutral GPC1 Gpc1 ENSG00000063660 glypican 1 chr2:241375088-241407493 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction) Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPC1 https://www.uniprot.org/uniprot/P35052 https://www.ncbi.nlm.nih.gov/omim/?term=600395 http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1 rs2228331 0.664337 0.7734 0.6642 0.08 1 12 exonic exonic exonic GPC1 GPC1 ENSG00000063660 nonsynonymous SNV nonsynonymous SNV unknown GPC1:NM_002081:exon9:c.A1498G:p.S500G, GPC1:uc002vyw.4:exon9:c.A1498G:p.S500G, UNKNOWN Het;A>G 628;50|34 Hom;A>G 2052;0|78 N N - 2 241621869 241621869 G A snp nonsynonymous SNV C386T T129M polar,hydrophilic,neutral hydrophobic,neutral AQP12B Aqp12 ENSG00000185176 aquaporin 12B chr2:241615835-241622323 Mice deficient for this marker have elevated total cholesterol levels and show an increased susceptibility to caerulein induced acute pancreatitis. GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AQP12B http://www.informatics.jax.org/searchtool/Search.do?query=AQP12B&submit=Quick%0D%15359ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP12B rs74882485 0 0 0.2091 0.33 4 12 exonic exonic exonic AQP12B AQP12B ENSG00000185176 nonsynonymous SNV nonsynonymous SNV unknown AQP12B:NM_001102467:exon1:c.C386T:p.T129M, AQP12B:uc010fzj.3:exon1:c.C386T:p.T129M, UNKNOWN Het;G>A 565;46|30 Hom;G>A 1687;2|63 N N - 2 241631413 241631413 T G snp nonsynonymous SNV T83G L28R aliphatic,hydrophobic,neutral polar,hydrophilic,charged(+) AQP12A Aqp12 ENSG00000184945 aquaporin 12A chr2:241631262-241637900 Hemoglobin A, Glycosylated Mice deficient for this marker have elevated total cholesterol levels and show an increased susceptibility to caerulein induced acute pancreatitis. Passive transport by Aquaporins GO:0006810;transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AQP12A https://www.ncbi.nlm.nih.gov/omim/?term=609789 http://www.informatics.jax.org/searchtool/Search.do?query=AQP12A&submit=Quick%0D%15301ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AQP12A rs71428454 0.19988 0 0.2781 0.54 7 13 exonic exonic exonic AQP12A AQP12A ENSG00000184945 nonsynonymous SNV nonsynonymous SNV unknown AQP12A:NM_198998:exon1:c.T83G:p.L28R, AQP12A:uc002vzu.3:exon1:c.T83G:p.L28R, UNKNOWN Het;T>G 1820;171|94 Hom;T>G 4199;6|160 N N - 2 241808314 241808314 C T snp nonsynonymous SNV C32T P11L hydrophobic,neutral aliphatic,hydrophobic,neutral AGXT Agxt ENSG00000172482 alanine-glyoxylate aminotransferase chr2:241807896-241819919 This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008] hyperoxaluria, primary, type 1; hperoxaluria, primary, type 1; Colorectal Neoplasms|Nervous System Diseases; hyperoxaluias; null; Chronic renal failure|Kidney Failure, Chronic; hyperoxaluria; Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones. Glyoxylate metabolism and glycine degradation GO:0007219;Notch signaling pathway;IEA|GO:0009436;glyoxylate catabolic process;IDA|GO:0019265;glycine biosynthetic process, by transamination of glyoxylate;IDA|GO:0019448;L-cysteine catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0042853;L-alanine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0046487;glyoxylate metabolic process;IMP|GO:0046724;oxalic acid secretion;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003824;catalytic activity;IEA|GO:0004760;serine-pyruvate transaminase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008453;alanine-glyoxylate transaminase activity;TAS|GO:0008483;transaminase activity;IDA|GO:0016597;amino acid binding;IDA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA http://www.genecards.org/index.php?path=/Search/keyword/AGXT https://hpo.jax.org/app/browse/search?q=AGXT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604285 http://www.informatics.jax.org/searchtool/Search.do?query=AGXT&submit=Quick%0D%13174ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGXT rs34116584 0.0808706 0.1553 0.1545 0.85 11 13 exonic exonic exonic AGXT AGXT ENSG00000172482 nonsynonymous SNV nonsynonymous SNV unknown AGXT:NM_000030:exon1:c.C32T:p.P11L, AGXT:uc010zoi.1:exon1:c.C32T:p.P11L,AGXT:uc002waa.4:exon1:c.C32T:p.P11L, UNKNOWN Het;C>T 1314;65|66 Hom;C>T 3291;0|117 N N - 2 241817516 241817516 A G snp nonsynonymous SNV A1020G I340M aliphatic,hydrophobic,neutral hydrophobic,neutral AGXT Agxt ENSG00000172482 alanine-glyoxylate aminotransferase chr2:241807896-241819919 This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008] hyperoxaluria, primary, type 1; hperoxaluria, primary, type 1; Colorectal Neoplasms|Nervous System Diseases; hyperoxaluias; null; Chronic renal failure|Kidney Failure, Chronic; hyperoxaluria; Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones. Glyoxylate metabolism and glycine degradation GO:0007219;Notch signaling pathway;IEA|GO:0009436;glyoxylate catabolic process;IDA|GO:0019265;glycine biosynthetic process, by transamination of glyoxylate;IDA|GO:0019448;L-cysteine catabolic process;IDA|GO:0034641;cellular nitrogen compound metabolic process;TAS|GO:0042853;L-alanine catabolic process;IDA|GO:0042866;pyruvate biosynthetic process;IEA|GO:0046487;glyoxylate metabolic process;IMP|GO:0046724;oxalic acid secretion;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051591;response to cAMP;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003824;catalytic activity;IEA|GO:0004760;serine-pyruvate transaminase activity;IEA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0008453;alanine-glyoxylate transaminase activity;TAS|GO:0008483;transaminase activity;IDA|GO:0016597;amino acid binding;IDA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0043621;protein self-association;IDA http://www.genecards.org/index.php?path=/Search/keyword/AGXT https://hpo.jax.org/app/browse/search?q=AGXT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604285 http://www.informatics.jax.org/searchtool/Search.do?query=AGXT&submit=Quick%0D%13174ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGXT rs4426527 0.111222 0.1592 0.1653 0.15 2 13 exonic exonic exonic AGXT AGXT ENSG00000172482 nonsynonymous SNV nonsynonymous SNV unknown AGXT:NM_000030:exon10:c.A1020G:p.I340M, AGXT:uc002waa.4:exon10:c.A1020G:p.I340M,AGXT:uc002wab.4:exon2:c.A654G:p.I218M, UNKNOWN Het;A>G 1632;54|74 Hom;A>G 2233;0|80 N N - 2 242573211 242573211 T C snp nonsynonymous SNV A361G S121G polar,hydrophilic,neutral aliphatic,neutral THAP4 Thap4 ENSG00000176946 THAP domain containing 4 chr2:242523820-242576864 Brain structure GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/THAP4 https://www.ncbi.nlm.nih.gov/omim/?term=612533 http://www.informatics.jax.org/searchtool/Search.do?query=THAP4&submit=Quick%0D%13942ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THAP4 rs7424328 0.610024 0.4708 0.5362 0.15 2 13 exonic exonic exonic THAP4 THAP4 ENSG00000176946 nonsynonymous SNV nonsynonymous SNV unknown THAP4:NM_015963:exon2:c.A361G:p.S121G, THAP4:uc002wbt.3:exon2:c.A361G:p.S121G, UNKNOWN Het;T>C 1737;83|76 Hom;T>C 4245;0|150 N N - 2 242610773 242610773 T A snp nonsynonymous SNV T1061A L354Q aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ATG4B Atg4b ENSG00000168397 autophagy related 4B cysteine peptidase chr2:242576628-242613272 Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning. Macroautophagy GO:0000045;autophagosome assembly;IGI|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IDA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IDA|GO:0015031;protein transport;IEA|GO:0016236;macroautophagy;TAS|GO:0044804;nucleophagy;IBA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0051697;protein delipidation;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0004175;endopeptidase activity;IDA|GO:0004197;cysteine-type endopeptidase activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IDA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATG4B https://www.ncbi.nlm.nih.gov/omim/?term=611338 http://www.informatics.jax.org/searchtool/Search.do?query=ATG4B&submit=Quick%0D%12260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4B rs7601000 0.879393 0.8346 0.8153 0.08 1 13 exonic exonic exonic ATG4B ATG4B ENSG00000168397 nonsynonymous SNV nonsynonymous SNV unknown ATG4B:NM_013325:exon12:c.T1061A:p.L354Q,ATG4B:NM_178326:exon12:c.T1061A:p.L354Q, ATG4B:uc010zoz.2:exon9:c.T839A:p.L280Q,ATG4B:uc002wbu.3:exon13:c.T839A:p.L280Q,ATG4B:uc002wbw.3:exon12:c.T1061A:p.L354Q,ATG4B:uc010zoy.2:exon13:c.T839A:p.L280Q,ATG4B:uc002wbv.3:exon12:c.T1061A:p.L354Q,ATG4B:uc010fzp.3:exon12:c.T1061A:p.L354Q,ATG4B:uc010zox.2:exon13:c.T1019A:p.L340Q, UNKNOWN Het;T>A 1623;81|78 Hom;T>A 5051;0|191 N N - 2 24524958 24524958 C T snp nonsynonymous SNV G871A V291I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ITSN2 Itsn2 ENSG00000198399 intersectin 2 chr2:24425733-24583583 This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Parkinson Disease; coronary spastic angina; Memory, Short-Term Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. Mice lacking the long isoform exhibit delayed recovery from LPS-induced kidney injury. Clathrin-mediated endocytosis GO:0006897;endocytosis;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0030154;cell differentiation;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:1903861;positive regulation of dendrite extension;IDA GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0070062;extracellular exosome;IDA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ITSN2 https://www.ncbi.nlm.nih.gov/omim/?term=604464 http://www.informatics.jax.org/searchtool/Search.do?query=ITSN2&submit=Quick%0D%16886ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITSN2 rs7603997 0.292133 0.3617 0.3046 0.23 3 13 exonic exonic exonic ITSN2 ITSN2 ENSG00000198399 nonsynonymous SNV nonsynonymous SNV unknown ITSN2:NM_147152:exon10:c.G871A:p.V291I,ITSN2:NM_019595:exon10:c.G871A:p.V291I,ITSN2:NM_006277:exon10:c.G871A:p.V291I, ITSN2:uc002rff.2:exon10:c.G871A:p.V291I,ITSN2:uc010eyd.2:exon11:c.G946A:p.V316I,ITSN2:uc002rfg.3:exon10:c.G871A:p.V291I,ITSN2:uc002rfe.2:exon10:c.G871A:p.V291I, UNKNOWN Het;C>T 818;57|40 Hom;C>T 2628;2|97 N N - 2 27887034 27887034 C A snp nonsynonymous SNV C415A P139T hydrophobic,neutral polar,hydrophilic,neutral SLC4A1AP Slc4a1ap ENSG00000163798 solute carrier family 4 member 1 adaptor protein chr2:27886338-27917840 Alzheimer Disease GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003729;mRNA binding;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SLC4A1AP https://www.ncbi.nlm.nih.gov/omim/?term=602655 http://www.informatics.jax.org/searchtool/Search.do?query=SLC4A1AP&submit=Quick%0D%11091ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC4A1AP rs9678851 0.339058 0.4770 0.4731 0.08 1 13 exonic exonic exonic SLC4A1AP SLC4A1AP ENSG00000163798 nonsynonymous SNV nonsynonymous SNV unknown SLC4A1AP:NM_018158:exon1:c.C415A:p.P139T, SLC4A1AP:uc002rlk.4:exon1:c.C415A:p.P139T, UNKNOWN Het;C>A 1571;37|66 Hom;C>A 3324;0|118 N N - 2 32961858 32961858 A G snp nonsynonymous SNV A1427G Y476C aromatic,polar,hydrophobic polar,hydrophobic,neutral TTC27 Ttc27 ENSG00000018699 tetratricopeptide repeat domain 27 chr2:32853099-33046118 Calcium; Tobacco Use Disorder; Eosinophils GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TTC27 https://www.uniprot.org/uniprot/Q6P3X3 http://www.informatics.jax.org/searchtool/Search.do?query=TTC27&submit=Quick%0D%642ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC27 rs2273660 0.128395 0.1334 0.1166 0.62 8 13 exonic exonic exonic TTC27 TTC27 ENSG00000018699 nonsynonymous SNV nonsynonymous SNV unknown TTC27:NM_017735:exon12:c.A1427G:p.Y476C,TTC27:NM_001193509:exon12:c.A1277G:p.Y426C, TTC27:uc002rom.3:exon12:c.A1427G:p.Y476C,TTC27:uc010ymx.2:exon12:c.A1277G:p.Y426C, UNKNOWN Het;A>G 878;52|46 Hom;A>G 3548;0|129 N N - 2 38298203 38298203 C G snp nonsynonymous SNV G1294C V432L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CYP1B1 Cyp1b1 ENSG00000138061 cytochrome P450 family 1 subfamily B member 1 chr2:38294116-38337044 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008] ovarian cancer; estrogens; prenatal environment exposure; lung cancer ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Osteoporosis, Postmenopausal; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; mamographic density; androgens estradiol estrogens hot flashes progesterone; drug-related genes ; glaucoma, primary congenital; 1-hyrdoxypyrene glucuronide concentrations; Pulmonary Disease, Chronic Obstructive; hot flashes; bladder cancer leukemia, myeloid lung cancer; breast and lung cancer; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; menarche; breast cancer; ovarian cancer ; lymphoma, Non-Hodgkin's; Colorectal Neoplasms; glaucoma; menopause; phenanthrene metabolite ratios, urinary; Cardiovascular Diseases|Lung Diseases|Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms; sex hormones; Hearing Loss; pharmacogenetic studies; DNA Damage|Neoplasms; Adenoma|Colorectal Neoplasms; Lung Neoplasms|Neoplasm of lung ; cancer; alcohol abuse; smoking behavior; Leiomyoma|Uterine Neoplasms; Hydrophthalmos; 2,3,7,8-Tetrachlorodibenzo-p-dioxin; pharmacokinetics; liver cancer; Glaucoma; lung cancer; hormone disturbance; Glaucoma, Open-Angle; chronic obstructive pulmonary disease; Cleft Lip|Cleft Palate; kidney cancer; Parkinson's disease; Autism; Lymphoma, Non-Hodgkin; longevity; bladder cancer; Carcinoma|Endometrial Neoplasms; chronic benzene poisoning; Carcinoma, Hepatocellular|Liver Neoplasms; pregnancy loss; PAH-DNA adducts; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; glaucoma, early-onset; pregnancy loss, recurrent; glaucoma, primary open-angle; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Lupus Erythematosus, Systemic; mammographic density; Asthma|; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; glaucoma, primary open-angle; glaucoma, primary congenital; brain cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Hot Flashes; testosterone; estradiol; androstenedione; DHEA; progesterone; endometriosis; Bone Mineral Density; mammographic density ; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Tobacco Use Disorder; breast cancer; endometrial cancer; human spermatogenic defect; metabolism of benzo[a]pyrene (B[a]P); breast cancer|prostate cancer; esophageal adenocarcinoma; catecholestrogen formation; catecholestrogen metabolism; breast cancer ; pancreatic cancer; prostate cancer; Endometriosis|; puberty onset; glaucoma, primary open-angle ocular hypertension; mental development; Chronic renal failure|Kidney Failure, Chronic; testicular cancer; menarche menopause; null; Cholestasis, Intrahepatic|Pregnancy Complications; estradiol urinary estrogen metabolites; Multiple Myeloma; Endometrial Neoplasms; Type 2 Diabetes| edema | rosiglitazone; testicular germ cell tumor; hypertension; breast cancer paclitaxel pharmacokinetics; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Laryngeal Neoplasms; Glaucoma, Open-Angle|Hydrophthalmos; Maduromycosis|Mycetoma; normal variation; Adenocarcinoma|Pancreatic Neoplasms; urinary estrogen metabolites; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Stomach Neoplasms; nucleotide excision repair; endometrial cancer; estrogen levels; primary congenital glaucoma Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) GO:0001525;angiogenesis;IEA|GO:0002930;trabecular meshwork development;IEA|GO:0006725;cellular aromatic compound metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008202;steroid metabolic process;IDA|GO:0008210;estrogen metabolic process;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009404;toxin metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0016125;sterol metabolic process;TAS|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IEA|GO:0042572;retinol metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043542;endothelial cell migration;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046466;membrane lipid catabolic process;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA|GO:0061304;retinal blood vessel morphogenesis;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071603;endothelial cell-cell adhesion;IEA|GO:0097267;omega-hydroxylase P450 pathway;TAS|GO:2000377;regulation of reactive oxygen species metabolic process;IEA GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP1B1 https://www.uniprot.org/uniprot/Q16678 https://hpo.jax.org/app/browse/search?q=CYP1B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601771 http://www.informatics.jax.org/searchtool/Search.do?query=CYP1B1&submit=Quick%0D%7658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP1B1 rs1056836 0.614816 0.4456 0.6195 1 0 0 exonic exonic exonic CYP1B1 CYP1B1 ENSG00000138061 nonsynonymous SNV nonsynonymous SNV unknown CYP1B1:NM_000104:exon3:c.G1294C:p.V432L, CYP1B1:uc002rqo.2:exon3:c.G1294C:p.V432L, UNKNOWN Het;C>G 1352;74|63 Hom;C>G 3383;0|115 N N - 2 38302177 38302177 C A snp nonsynonymous SNV G355T A119S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral CYP1B1 Cyp1b1 ENSG00000138061 cytochrome P450 family 1 subfamily B member 1 chr2:38294116-38337044 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008] ovarian cancer; estrogens; prenatal environment exposure; lung cancer ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Osteoporosis, Postmenopausal; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; mamographic density; androgens estradiol estrogens hot flashes progesterone; drug-related genes ; glaucoma, primary congenital; 1-hyrdoxypyrene glucuronide concentrations; Pulmonary Disease, Chronic Obstructive; hot flashes; bladder cancer leukemia, myeloid lung cancer; breast and lung cancer; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; menarche; breast cancer; ovarian cancer ; lymphoma, Non-Hodgkin's; Colorectal Neoplasms; glaucoma; menopause; phenanthrene metabolite ratios, urinary; Cardiovascular Diseases|Lung Diseases|Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms; sex hormones; Hearing Loss; pharmacogenetic studies; DNA Damage|Neoplasms; Adenoma|Colorectal Neoplasms; Lung Neoplasms|Neoplasm of lung ; cancer; alcohol abuse; smoking behavior; Leiomyoma|Uterine Neoplasms; Hydrophthalmos; 2,3,7,8-Tetrachlorodibenzo-p-dioxin; pharmacokinetics; liver cancer; Glaucoma; lung cancer; hormone disturbance; Glaucoma, Open-Angle; chronic obstructive pulmonary disease; Cleft Lip|Cleft Palate; kidney cancer; Parkinson's disease; Autism; Lymphoma, Non-Hodgkin; longevity; bladder cancer; Carcinoma|Endometrial Neoplasms; chronic benzene poisoning; Carcinoma, Hepatocellular|Liver Neoplasms; pregnancy loss; PAH-DNA adducts; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; glaucoma, early-onset; pregnancy loss, recurrent; glaucoma, primary open-angle; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Lupus Erythematosus, Systemic; mammographic density; Asthma|; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; glaucoma, primary open-angle; glaucoma, primary congenital; brain cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Hot Flashes; testosterone; estradiol; androstenedione; DHEA; progesterone; endometriosis; Bone Mineral Density; mammographic density ; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Tobacco Use Disorder; breast cancer; endometrial cancer; human spermatogenic defect; metabolism of benzo[a]pyrene (B[a]P); breast cancer|prostate cancer; esophageal adenocarcinoma; catecholestrogen formation; catecholestrogen metabolism; breast cancer ; pancreatic cancer; prostate cancer; Endometriosis|; puberty onset; glaucoma, primary open-angle ocular hypertension; mental development; Chronic renal failure|Kidney Failure, Chronic; testicular cancer; menarche menopause; null; Cholestasis, Intrahepatic|Pregnancy Complications; estradiol urinary estrogen metabolites; Multiple Myeloma; Endometrial Neoplasms; Type 2 Diabetes| edema | rosiglitazone; testicular germ cell tumor; hypertension; breast cancer paclitaxel pharmacokinetics; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Laryngeal Neoplasms; Glaucoma, Open-Angle|Hydrophthalmos; Maduromycosis|Mycetoma; normal variation; Adenocarcinoma|Pancreatic Neoplasms; urinary estrogen metabolites; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Stomach Neoplasms; nucleotide excision repair; endometrial cancer; estrogen levels; primary congenital glaucoma Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) GO:0001525;angiogenesis;IEA|GO:0002930;trabecular meshwork development;IEA|GO:0006725;cellular aromatic compound metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008202;steroid metabolic process;IDA|GO:0008210;estrogen metabolic process;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009404;toxin metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0016125;sterol metabolic process;TAS|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IEA|GO:0042572;retinol metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043542;endothelial cell migration;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046466;membrane lipid catabolic process;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA|GO:0061304;retinal blood vessel morphogenesis;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071603;endothelial cell-cell adhesion;IEA|GO:0097267;omega-hydroxylase P450 pathway;TAS|GO:2000377;regulation of reactive oxygen species metabolic process;IEA GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP1B1 https://www.uniprot.org/uniprot/Q16678 https://hpo.jax.org/app/browse/search?q=CYP1B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601771 http://www.informatics.jax.org/searchtool/Search.do?query=CYP1B1&submit=Quick%0D%7658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP1B1 rs1056827 0.36242 0.3365 0.4120 0.10 1 10 exonic exonic exonic CYP1B1 CYP1B1 ENSG00000138061 nonsynonymous SNV nonsynonymous SNV unknown CYP1B1:NM_000104:exon2:c.G355T:p.A119S, CYP1B1:uc002rqo.2:exon2:c.G355T:p.A119S, UNKNOWN Het;C>A 862;27|39 Hom;C>A 2705;0|106 N N - 2 38302390 38302390 G C snp nonsynonymous SNV C142G R48G polar,hydrophilic,charged(+) aliphatic,neutral CYP1B1 Cyp1b1 ENSG00000138061 cytochrome P450 family 1 subfamily B member 1 chr2:38294116-38337044 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008] ovarian cancer; estrogens; prenatal environment exposure; lung cancer ; Genomic Instability|Mesothelioma|Pleural Neoplasms; Osteoporosis, Postmenopausal; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; mamographic density; androgens estradiol estrogens hot flashes progesterone; drug-related genes ; glaucoma, primary congenital; 1-hyrdoxypyrene glucuronide concentrations; Pulmonary Disease, Chronic Obstructive; hot flashes; bladder cancer leukemia, myeloid lung cancer; breast and lung cancer; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; menarche; breast cancer; ovarian cancer ; lymphoma, Non-Hodgkin's; Colorectal Neoplasms; glaucoma; menopause; phenanthrene metabolite ratios, urinary; Cardiovascular Diseases|Lung Diseases|Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms; sex hormones; Hearing Loss; pharmacogenetic studies; DNA Damage|Neoplasms; Adenoma|Colorectal Neoplasms; Lung Neoplasms|Neoplasm of lung ; cancer; alcohol abuse; smoking behavior; Leiomyoma|Uterine Neoplasms; Hydrophthalmos; 2,3,7,8-Tetrachlorodibenzo-p-dioxin; pharmacokinetics; liver cancer; Glaucoma; lung cancer; hormone disturbance; Glaucoma, Open-Angle; chronic obstructive pulmonary disease; Cleft Lip|Cleft Palate; kidney cancer; Parkinson's disease; Autism; Lymphoma, Non-Hodgkin; longevity; bladder cancer; Carcinoma|Endometrial Neoplasms; chronic benzene poisoning; Carcinoma, Hepatocellular|Liver Neoplasms; pregnancy loss; PAH-DNA adducts; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; glaucoma, early-onset; pregnancy loss, recurrent; glaucoma, primary open-angle; Glaucoma, Angle-Closure|Glaucoma, Open-Angle; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; Lupus Erythematosus, Systemic; mammographic density; Asthma|; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; glaucoma, primary open-angle; glaucoma, primary congenital; brain cancer; Leukemia, Lymphocytic, Chronic, B-Cell; Hot Flashes; testosterone; estradiol; androstenedione; DHEA; progesterone; endometriosis; Bone Mineral Density; mammographic density ; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Tobacco Use Disorder; breast cancer; endometrial cancer; human spermatogenic defect; metabolism of benzo[a]pyrene (B[a]P); breast cancer|prostate cancer; esophageal adenocarcinoma; catecholestrogen formation; catecholestrogen metabolism; breast cancer ; pancreatic cancer; prostate cancer; Endometriosis|; puberty onset; glaucoma, primary open-angle ocular hypertension; mental development; Chronic renal failure|Kidney Failure, Chronic; testicular cancer; menarche menopause; null; Cholestasis, Intrahepatic|Pregnancy Complications; estradiol urinary estrogen metabolites; Multiple Myeloma; Endometrial Neoplasms; Type 2 Diabetes| edema | rosiglitazone; testicular germ cell tumor; hypertension; breast cancer paclitaxel pharmacokinetics; Carcinoma, Squamous Cell|Hypopharyngeal Neoplasms|Laryngeal Neoplasms; Glaucoma, Open-Angle|Hydrophthalmos; Maduromycosis|Mycetoma; normal variation; Adenocarcinoma|Pancreatic Neoplasms; urinary estrogen metabolites; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; Stomach Neoplasms; nucleotide excision repair; endometrial cancer; estrogen levels; primary congenital glaucoma Mice homozygous for a knock-out allele are protected from the acute bone marrow cytotoxic and preleukemic effects of DMBA, show a decreased incidence of DMBA-induced lymphomas, and display background-sensitive ocular abnormalities. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) GO:0001525;angiogenesis;IEA|GO:0002930;trabecular meshwork development;IEA|GO:0006725;cellular aromatic compound metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IDA|GO:0006809;nitric oxide biosynthetic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;TAS|GO:0008202;steroid metabolic process;IDA|GO:0008210;estrogen metabolic process;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;IEA|GO:0009404;toxin metabolic process;IEA|GO:0009636;response to toxic substance;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0016125;sterol metabolic process;TAS|GO:0019369;arachidonic acid metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0030199;collagen fibril organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IEA|GO:0033629;negative regulation of cell adhesion mediated by integrin;IEA|GO:0042572;retinol metabolic process;IDA|GO:0042574;retinal metabolic process;IDA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043542;endothelial cell migration;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0046427;positive regulation of JAK-STAT cascade;IEA|GO:0046466;membrane lipid catabolic process;IEA|GO:0048514;blood vessel morphogenesis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0061298;retina vasculature development in camera-type eye;IEA|GO:0061304;retinal blood vessel morphogenesis;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071407;cellular response to organic cyclic compound;IDA|GO:0071603;endothelial cell-cell adhesion;IEA|GO:0097267;omega-hydroxylase P450 pathway;TAS|GO:2000377;regulation of reactive oxygen species metabolic process;IEA GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP1B1 https://www.uniprot.org/uniprot/Q16678 https://hpo.jax.org/app/browse/search?q=CYP1B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601771 http://www.informatics.jax.org/searchtool/Search.do?query=CYP1B1&submit=Quick%0D%7658ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP1B1 rs10012 0.3748 0.3499 0.3777 0.10 1 10 exonic exonic exonic CYP1B1 CYP1B1 ENSG00000138061 nonsynonymous SNV nonsynonymous SNV unknown CYP1B1:NM_000104:exon2:c.C142G:p.R48G, CYP1B1:uc002rqo.2:exon2:c.C142G:p.R48G, UNKNOWN Het;G>C 774;30|34 Hom;G>C 1635;0|58 N N - 2 42990101 42990101 G C snp nonsynonymous SNV C1219G L407V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OXER1 ENSG00000162881 oxoeicosanoid receptor 1 chr2:42989642-42991401 ADHD | attention-deficit hyperactivity disorder; hyperactive-impulsive symptoms G alpha (i) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0030817;regulation of cAMP biosynthetic process;IDA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0050646;5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050647;5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS|GO:0050648;5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/OXER1 http://www.informatics.jax.org/searchtool/Search.do?query=OXER1&submit=Quick%0D%10820ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OXER1 rs2278586 0.334864 0.2167 0.2734 0.25 3 12 exonic exonic exonic OXER1 OXER1 ENSG00000162881 nonsynonymous SNV nonsynonymous SNV unknown OXER1:NM_148962:exon1:c.C1219G:p.L407V, OXER1:uc002rss.3:exon1:c.C1219G:p.L407V, UNKNOWN Het;G>C 2132;85|100 Hom;G>C 3046;2|111 N N - 2 43015704 43015704 T A snp nonsynonymous SNV A124T T42S polar,hydrophilic,neutral polar,hydrophilic,neutral HAAO Haao ENSG00000162882 3-hydroxyanthranilate 3,4-dioxygenase chr2:42994229-43019733 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008] Amyotrophic Lateral Sclerosis; Heart Rate; Alcoholism; Celiac Disease|; Multiple Sclerosis; Hemoglobin A, Glycosylated Mice homozygous for a knock-out allele exhibit reduced LPS-induced depressive behaviors and altered kynurenine metabolism. Tryptophan catabolism GO:0006569;tryptophan catabolic process;TAS|GO:0009435;NAD biosynthetic process;IEA|GO:0010043;response to zinc ion;IDA|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019805;quinolinate biosynthetic process;NAS|GO:0046686;response to cadmium ion;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070050;neuron cellular homeostasis;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0000334;3-hydroxyanthranilate 3,4-dioxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008198;ferrous iron binding;IDA|GO:0009055;electron carrier activity;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HAAO https://hpo.jax.org/app/browse/search?q=HAAO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604521 http://www.informatics.jax.org/searchtool/Search.do?query=HAAO&submit=Quick%0D%10821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAAO rs3816182 0.314696 0.2304 0.2845 0.23 3 13 exonic exonic exonic HAAO HAAO ENSG00000162882 nonsynonymous SNV nonsynonymous SNV unknown HAAO:NM_012205:exon2:c.A124T:p.T42S, HAAO:uc010ynw.1:exon2:c.A124T:p.T42S,HAAO:uc002rst.4:exon2:c.A124T:p.T42S, UNKNOWN Het;T>A 586;18|29 Hom;T>A 1015;0|40 N N - 2 43015719 43015719 T C snp nonsynonymous SNV A109G I37V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HAAO Haao ENSG00000162882 3-hydroxyanthranilate 3,4-dioxygenase chr2:42994229-43019733 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008] Amyotrophic Lateral Sclerosis; Heart Rate; Alcoholism; Celiac Disease|; Multiple Sclerosis; Hemoglobin A, Glycosylated Mice homozygous for a knock-out allele exhibit reduced LPS-induced depressive behaviors and altered kynurenine metabolism. Tryptophan catabolism GO:0006569;tryptophan catabolic process;TAS|GO:0009435;NAD biosynthetic process;IEA|GO:0010043;response to zinc ion;IDA|GO:0019363;pyridine nucleotide biosynthetic process;IEA|GO:0019805;quinolinate biosynthetic process;NAS|GO:0046686;response to cadmium ion;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070050;neuron cellular homeostasis;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0000334;3-hydroxyanthranilate 3,4-dioxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008198;ferrous iron binding;IDA|GO:0009055;electron carrier activity;NAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HAAO https://hpo.jax.org/app/browse/search?q=HAAO&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604521 http://www.informatics.jax.org/searchtool/Search.do?query=HAAO&submit=Quick%0D%10821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HAAO rs3816183 0.859625 0.7936 0.8061 0.15 2 13 exonic exonic exonic HAAO HAAO ENSG00000162882 nonsynonymous SNV nonsynonymous SNV unknown HAAO:NM_012205:exon2:c.A109G:p.I37V, HAAO:uc010ynw.1:exon2:c.A109G:p.I37V,HAAO:uc002rst.4:exon2:c.A109G:p.I37V, UNKNOWN Het;T>C 683;16|33 Hom;T>C 1001;0|39 N N - 2 68385097 68385097 A G snp nonsynonymous SNV A31G R11G polar,hydrophilic,charged(+) aliphatic,neutral PNO1 Pno1 ENSG00000115946 partner of NOB1 homolog chr2:68384976-68403370 Mice homozygous for a knock-out allele exhibit eombryonic lethality between E3.5 and E6.5. Major pathway of rRNA processing in the nucleolus and cytosol GO:0006364;rRNA processing;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;TAS GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PNO1 https://www.uniprot.org/uniprot/Q9NRX1 http://www.informatics.jax.org/searchtool/Search.do?query=PNO1&submit=Quick%0D%4679ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNO1 rs2044693 0.768371 0.7406 0.7064 0.08 1 12 exonic exonic exonic PNO1 PNO1 ENSG00000115946,ENSG00000273398 nonsynonymous SNV nonsynonymous SNV unknown PNO1:NM_020143:exon1:c.A31G:p.R11G, PNO1:uc002seh.3:exon1:c.A31G:p.R11G, UNKNOWN Het;A>G 1464;70|70 Hom;A>G 2932;0|107 N N - 2 69173570 69173570 C T snp nonsynonymous SNV G338A S113N polar,hydrophilic,neutral polar,hydrophilic,neutral GKN2 Gkn2 ENSG00000183607 gastrokine 2 chr2:69172364-69180102 The secretory protein encoded by this gene is produced in gastric surface mucous cells, where it can bind trefoil factor family peptide 1 or gastrokine-1. This gene may be a tumor suppressor gene, as its expression is markedly decreased in gastric cancer tissues. The encoded protein interacts with gastrokine-1 and regulates homeostasis of the gastric mucosa. [provided by RefSeq, Dec 2015] Lung Neoplasms GO:0042127;regulation of cell proliferation;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0045178;basal part of cell;IEA http://www.genecards.org/index.php?path=/Search/keyword/GKN2 http://www.informatics.jax.org/searchtool/Search.do?query=GKN2&submit=Quick%0D%15022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GKN2 rs1128272 0.313099 0.2103 0.1726 0.08 1 13 exonic exonic exonic GKN2 GKN2 ENSG00000183607 nonsynonymous SNV nonsynonymous SNV unknown GKN2:NM_182536:exon5:c.G338A:p.S113N, GKN2:uc002sfa.3:exon5:c.G338A:p.S113N,GKN2:uc002sfb.4:exon5:c.G338A:p.S113N, UNKNOWN Het;C>T 1585;82|77 Hom;C>T 3722;3|145 N N - 2 75099477 75099477 A T snp nonsynonymous SNV A426T Q142H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) HK2 Hk2 ENSG00000159399 hexokinase 2 chr2:75061108-75120486 Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009] diabetes, type 2; Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; Acquired Immunodeficiency Syndrome|Disease Progression Embryos homozygous for a knock-out mutation are severely growth retarded and die around E8.5. Interestingly, heterozygous mutant mice are viable and fertile, develop normally and do not exhibit impaired insulin action or glucose tolerance even when challenged with a high-fat diet. Glycolysis GO:0001678;cellular glucose homeostasis;IBA|GO:0002931;response to ischemia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006006;glucose metabolic process;IEA|GO:0006096;glycolytic process;TAS|GO:0007595;lactation;IEA|GO:0008152;metabolic process;IEA|GO:0008637;apoptotic mitochondrial changes;IDA|GO:0015758;glucose transport;TAS|GO:0016310;phosphorylation;IEA|GO:0019318;hexose metabolic process;IEA|GO:0035795;negative regulation of mitochondrial membrane permeability;IEA|GO:0046324;regulation of glucose import;IEA|GO:0046835;carbohydrate phosphorylation;IEA|GO:0051156;glucose 6-phosphate metabolic process;IEA|GO:0061621;canonical glycolysis;TAS|GO:0072655;establishment of protein localization to mitochondrion;IMP|GO:0072656;maintenance of protein location in mitochondrion;IMP|GO:1904925;positive regulation of mitophagy in response to mitochondrial depolarization;IMP|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA GO:0005623;cell;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;NAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004340;glucokinase activity;TAS|GO:0004396;hexokinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005536;glucose binding;IEA|GO:0008865;fructokinase activity;IBA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0019158;mannokinase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/HK2 https://www.ncbi.nlm.nih.gov/omim/?term=601125 http://www.informatics.jax.org/searchtool/Search.do?query=HK2&submit=Quick%0D%10334ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HK2 rs2229621 0.179513 0.1908 0.1828 0.31 4 13 exonic exonic exonic HK2 HK2 ENSG00000159399 nonsynonymous SNV nonsynonymous SNV unknown HK2:NM_000189:exon4:c.A426T:p.Q142H, HK2:uc002snd.3:exon4:c.A426T:p.Q142H, UNKNOWN Het;A>T 834;52|41 Hom;A>T 2433;0|93 N N - 3 10044626 10044626 T C snp nonsynonymous SNV T176C M59T hydrophobic,neutral polar,hydrophilic,neutral AK125558 rs13088350 0.243411 0 0.2231 1 0 0 ncRNA_exonic exonic ncRNA_exonic EMC3-AS1 AK125558,AX747493 ENSG00000180385 Na nonsynonymous SNV Na Na AX747493:uc003buq.1:exon2:c.T176C:p.M59T,AK125558:uc003bup.1:exon4:c.T176C:p.M59T, Na Het;T>C 1221;82|60 Hom;T>C 3012;4|105 N N - 3 10049287 10049287 T C snp nonsynonymous SNV A98G H33R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) LOC401052 rs2272118 0.35623 0.3724 0.2706 1 0 0 exonic exonic ncRNA_exonic LOC401052 LOC401052 ENSG00000206567 nonsynonymous SNV nonsynonymous SNV Na LOC401052:NM_001008737:exon4:c.A98G:p.H33R, LOC401052:uc003bur.1:exon4:c.A98G:p.H33R, Na Het;T>C 1125;37|57 Hom;T>C 2677;2|106 N N - 3 10106532 10106532 C T snp nonsynonymous SNV C2141T P714L hydrophobic,neutral aliphatic,hydrophobic,neutral FANCD2 Fancd2 ENSG00000144554 Fanconi anemia complementation group D2 chr3:10068098-10143614 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] epithelial ovarian cancer ; breast cancer ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; prostate cancer; Colorectal Neoplasms; bladder cancer; Adenocarcinoma|Pancreatic Neoplasms; Tobacco Use Disorder; breast cancer Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia. TP53 Regulates Transcription of DNA Repair Genes GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007129;synapsis;IEA|GO:0007276;gamete generation;IEA|GO:0010332;response to gamma radiation;IDA|GO:0034599;cellular response to oxidative stress;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA GO:0005515;protein binding;IPI|GO:0070182;DNA polymerase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCD2 https://www.uniprot.org/uniprot/Q9BXW9 https://hpo.jax.org/app/browse/search?q=FANCD2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613984 http://www.informatics.jax.org/searchtool/Search.do?query=FANCD2&submit=Quick%0D%8620ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCD2 rs3864017 0 0 0.1545 0.08 1 13 exonic exonic exonic FANCD2 FANCD2 ENSG00000144554 nonsynonymous SNV nonsynonymous SNV unknown FANCD2:NM_033084:exon23:c.C2141T:p.P714L,FANCD2:NM_001018115:exon23:c.C2141T:p.P714L, FANCD2:uc003buw.3:exon23:c.C2141T:p.P714L,FANCD2:uc003bux.1:exon23:c.C2141T:p.P714L,FANCD2:uc003buy.1:exon23:c.C2141T:p.P714L, UNKNOWN Het;C>T 1061;97|55 Hom;C>T 2284;2|86 N N - 3 108159977 108159977 G A snp nonsynonymous SNV C2846T T949I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral MYH15 Myh15 ENSG00000144821 myosin heavy chain 15 chr3:108099216-108248169 Body Composition; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Coronary Disease|Coronary heart disease; Anticoagulants Translocation of GLUT4 to the plasma membrane GO:0005737;cytoplasm;IEA|GO:0016459;myosin complex;IEA|GO:0030016;myofibril;IEA|GO:0032982;myosin filament;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYH15 https://www.uniprot.org/uniprot/Q9Y2K3 https://www.ncbi.nlm.nih.gov/omim/?term=609929 http://www.informatics.jax.org/searchtool/Search.do?query=MYH15&submit=Quick%0D%8665ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH15 rs12638212 0.188698 0.0444 0.1244 0.58 7 12 exonic exonic exonic MYH15 MYH15 ENSG00000144821 nonsynonymous SNV nonsynonymous SNV unknown MYH15:NM_014981:exon24:c.C2846T:p.T949I, MYH15:uc003dxa.1:exon24:c.C2846T:p.T949I, UNKNOWN Het;G>A 1258;36|59 Hom;G>A 2238;0|85 N N - 3 112727184 112727184 A T snp nonsynonymous SNV T1069A F357I aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C3orf17 Nepro rs2306857 0.496206 0.6134 0.6698 0.08 1 13 exonic exonic exonic C3orf17 C3orf17 ENSG00000163608 nonsynonymous SNV nonsynonymous SNV unknown C3orf17:NM_015412:exon8:c.T1069A:p.F357I, C3orf17:uc010hqg.3:exon7:c.T544A:p.F182I,C3orf17:uc003dzr.3:exon8:c.T1069A:p.F357I,C3orf17:uc011bia.2:exon7:c.T460A:p.F154I,C3orf17:uc003dzs.3:exon7:c.T661A:p.F221I,C3orf17:uc011bib.2:exon7:c.T736A:p.F246I,C3orf17:uc003dzu.3:exon6:c.T856A:p.F286I,C3orf17:uc011bic.2:exon5:c.T568A:p.F190I,C3orf17:uc003dzt.3:exon7:c.T778A:p.F260I, UNKNOWN Het;A>T 639;37|33 Hom;A>T 1839;0|67 N N - 3 113146130 113146130 T C snp nonsynonymous SNV A157G K53E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) CFAP44 Cfap44 rs59722850 0.272564 0.1913 0.2714 0.17 2 12 exonic exonic exonic CFAP44 WDR52 ENSG00000206530 nonsynonymous SNV nonsynonymous SNV unknown CFAP44:NM_018338:exon3:c.A157G:p.K53E,CFAP44:NM_001164496:exon3:c.A157G:p.K53E, WDR52:uc003eae.2:exon3:c.A157G:p.K53E,WDR52:uc003ead.2:exon3:c.A157G:p.K53E, UNKNOWN Het;T>C 2665;82|70 Hom;T>C 4269;0|114 N N - 3 119133183 119133183 G A snp nonsynonymous SNV G2407A G803S aliphatic,neutral polar,hydrophilic,neutral ARHGAP31 Arhgap31 ENSG00000031081 Rho GTPase activating protein 31 chr3:119013220-119139561 This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008] Coronary Artery Disease; Celiac Disease Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA GO:0005096;GTPase activator activity;TAS|GO:0017124;SH3 domain binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP31 https://www.uniprot.org/uniprot/Q2M1Z3 https://hpo.jax.org/app/browse/search?q=ARHGAP31&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610911 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP31&submit=Quick%0D%742ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP31 rs3732413 0.845647 0.8316 0.8083 0.08 1 13 exonic exonic exonic ARHGAP31 ARHGAP31 ENSG00000031081 nonsynonymous SNV nonsynonymous SNV unknown ARHGAP31:NM_020754:exon12:c.G2407A:p.G803S, ARHGAP31:uc003ecj.4:exon12:c.G2407A:p.G803S, UNKNOWN Het;G>A 816;53|36 Hom;G>A 2123;0|79 N N - 3 121825197 121825197 G A snp nonsynonymous SNV G535A V179I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CD86 Cd86 ENSG00000114013 CD86 molecule chr3:121774213-121839983 This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011] Coronary Artery Disease; asthma atopy; respiratory syncytial virus bronchiolitis; rheumatoid arthritis; liver transplant; Atherosclerosis|; multiple sclerosis; lung cancer; Pemphigus; cervical intraepithelial neoplasia grade 3; Hepatitis C|Remission, Spontaneous; systemic lupus erythematosus; subacute sclerosing panencephalitis; diabetes, type 1; Erythrocyte Count; celiac disease; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; rheumatoid arthritis; systemic lupus erythematosus; chronic obstructive pulmonary disease; Hepatitis B|Recurrence; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; sarcoidosis; colorectal cancer; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|; Multiple Sclerosis; lung cancer ; Neoplasms; sclerosis, systemic; bladder cancer; Chronic renal failure|Kidney Failure, Chronic; antibiotic-induced cutaneous allergic reactions; Type 2 Diabetes| edema | rosiglitazone Homozygous null mice on an NOD background display a phenotype similar to human Guillain-Barre Syndrome, exhibiting severe peripheral nervous system inflammation, sciatic nerve demyelination, elevated auto-antibodies to myelin protein zero, hindlimb paralysis, and weak forelimb grip. PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling GO:0001878;response to yeast;IEA|GO:0002224;toll-like receptor signaling pathway;IEA|GO:0002250;adaptive immune response;IEA|GO:0002309;T cell proliferation involved in immune response;IEA|GO:0002376;immune system process;IEA|GO:0002668;negative regulation of T cell anergy;IEA|GO:0006955;immune response;TAS|GO:0007267;cell-cell signaling;IC|GO:0007568;aging;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0016032;viral process;IEA|GO:0031295;T cell costimulation;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0034138;toll-like receptor 3 signaling pathway;IEA|GO:0034341;response to interferon-gamma;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0042110;T cell activation;IC|GO:0042113;B cell activation;IEA|GO:0042493;response to drug;IEA|GO:0043011;myeloid dendritic cell differentiation;IEA|GO:0043017;positive regulation of lymphotoxin A biosynthetic process;NAS|GO:0045086;positive regulation of interleukin-2 biosynthetic process;NAS|GO:0045404;positive regulation of interleukin-4 biosynthetic process;NAS|GO:0045630;positive regulation of T-helper 2 cell differentiation;NAS|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0046718;viral entry into host cell;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0051607;defense response to virus;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071248;cellular response to metal ion;IEA|GO:0071345;cellular response to cytokine stimulus;IEA GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IC|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0005102;receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0015026;coreceptor activity;NAS|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CD86 https://www.uniprot.org/uniprot/P42081 https://www.ncbi.nlm.nih.gov/omim/?term=601020 http://www.informatics.jax.org/searchtool/Search.do?query=CD86&submit=Quick%0D%4423ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD86 rs2681417 0.868011 0.8483 0.9138 0.08 1 13 exonic exonic exonic CD86 CD86 ENSG00000114013 nonsynonymous SNV nonsynonymous SNV unknown CD86:NM_006889:exon4:c.G535A:p.V179I,CD86:NM_001206925:exon3:c.G307A:p.V103I,CD86:NM_175862:exon4:c.G553A:p.V185I,CD86:NM_176892:exon4:c.G535A:p.V179I,CD86:NM_001206924:exon3:c.G217A:p.V73I, CD86:uc021xcz.1:exon4:c.G535A:p.V179I,CD86:uc003eeu.3:exon4:c.G535A:p.V179I,CD86:uc003eet.3:exon4:c.G553A:p.V185I,CD86:uc011bjp.2:exon3:c.G217A:p.V73I,CD86:uc011bjo.2:exon3:c.G307A:p.V103I, UNKNOWN Het;G>A 1822;99|87 Hom;G>A 5108;0|195 N N - 3 128720487 128720487 A G snp nonsynonymous SNV A16G T6A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral EFCC1 Efcc1 ENSG00000114654 EF-hand and coiled-coil domain containing 1 chr3:128720472-128759585 GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFCC1 https://www.uniprot.org/uniprot/Q9HA90 http://www.informatics.jax.org/searchtool/Search.do?query=EFCC1&submit=Quick%0D%4487ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCC1 rs1871951 0.695487 0 0.6770 0.11 1 9 exonic exonic exonic EFCC1 EFCC1 ENSG00000114654 nonsynonymous SNV nonsynonymous SNV unknown EFCC1:NM_024768:exon1:c.A16G:p.T6A, EFCC1:uc011bkt.2:exon1:c.A16G:p.T6A, UNKNOWN Het;A>G 102;4|5 Hom;A>G 210;0|8 N N - 3 128755953 128755953 G A snp nonsynonymous SNV G1583A R528Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral EFCC1 Efcc1 ENSG00000114654 EF-hand and coiled-coil domain containing 1 chr3:128720472-128759585 GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFCC1 https://www.uniprot.org/uniprot/Q9HA90 http://www.informatics.jax.org/searchtool/Search.do?query=EFCC1&submit=Quick%0D%4487ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCC1 rs3732430 0.323083 0.4017 0.3994 0.60 6 10 exonic exonic exonic EFCC1 EFCC1 ENSG00000114654 nonsynonymous SNV nonsynonymous SNV unknown EFCC1:NM_024768:exon6:c.G1583A:p.R528Q, EFCC1:uc011bkt.2:exon6:c.G1583A:p.R528Q, UNKNOWN Het;G>A 391;38|22 Hom;G>A 2438;0|93 N N - 3 130368069 130368069 A G snp nonsynonymous SNV A5396G H1799R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) COL6A6 Col6a6 ENSG00000206384 collagen type VI alpha 6 chain chr3:130279178-130396999 Collagen chain trimerization GO:0007155;cell adhesion;IEA|GO:0030574;collagen catabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL6A6 https://www.ncbi.nlm.nih.gov/omim/?term=616613 http://www.informatics.jax.org/searchtool/Search.do?query=COL6A6&submit=Quick%0D%17673ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A6 rs7614116 0.572085 0.4304 0.4830 0.25 3 12 exonic exonic exonic COL6A6 COL6A6 ENSG00000206384 nonsynonymous SNV nonsynonymous SNV unknown COL6A6:NM_001102608:exon32:c.A5396G:p.H1799R, COL6A6:uc010htl.3:exon32:c.A5396G:p.H1799R, UNKNOWN Het;A>G 1223;74|56 Hom;A>G 3387;0|120 N N - 3 137786442 137786442 T C snp nonsynonymous SNV A1933G K645E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) DZIP1L Dzip1l ENSG00000158163 DAZ interacting zinc finger protein 1 like chr3:137780832-137834660 Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background. GO:0060271;cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L rs442800 0.553115 0.5933 0.6457 0.08 1 13 exonic exonic exonic DZIP1L DZIP1L ENSG00000158163 nonsynonymous SNV nonsynonymous SNV unknown DZIP1L:NM_173543:exon14:c.A1933G:p.K645E, DZIP1L:uc003erq.3:exon14:c.A1933G:p.K645E, UNKNOWN Het;T>C 767;44|36 Hom;T>C 1211;2|45 N N - 3 137787047 137787047 C T snp nonsynonymous SNV G1778A R593H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) DZIP1L Dzip1l ENSG00000158163 DAZ interacting zinc finger protein 1 like chr3:137780832-137834660 Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background. GO:0060271;cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L rs374045 0.628794 0.7237 0.7718 0.15 2 13 exonic exonic exonic DZIP1L DZIP1L ENSG00000158163 nonsynonymous SNV nonsynonymous SNV unknown DZIP1L:NM_173543:exon13:c.G1778A:p.R593H, DZIP1L:uc003erq.3:exon13:c.G1778A:p.R593H, UNKNOWN Het;C>T 993;52|48 Hom;C>T 1361;0|51 N N - 3 137787192 137787192 T C snp nonsynonymous SNV A1633G T545A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral DZIP1L Dzip1l ENSG00000158163 DAZ interacting zinc finger protein 1 like chr3:137780832-137834660 Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background. GO:0060271;cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L rs446644 0.628794 0.7241 0.7717 0.08 1 13 exonic exonic exonic DZIP1L DZIP1L ENSG00000158163 nonsynonymous SNV nonsynonymous SNV unknown DZIP1L:NM_173543:exon13:c.A1633G:p.T545A, DZIP1L:uc003erq.3:exon13:c.A1633G:p.T545A, UNKNOWN Het;T>C 847;54|42 Hom;T>C 1019;0|36 N N - 3 137807259 137807259 G A snp nonsynonymous SNV C961T R321W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral DZIP1L Dzip1l ENSG00000158163 DAZ interacting zinc finger protein 1 like chr3:137780832-137834660 Mice homozygous for an ENU-induced mutation exhibit early onset, progressive cystic kidney disease, polydactyly, facial clefting, eye defects, and prenatal lethality. Craniofacial defects and lethality are ameliorated in mice with an outbred genetic background. GO:0060271;cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DZIP1L https://hpo.jax.org/app/browse/search?q=DZIP1L&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=DZIP1L&submit=Quick%0D%10177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DZIP1L rs2724693 0.536941 0.5690 0.6386 0.38 5 13 exonic exonic exonic DZIP1L DZIP1L ENSG00000158163 nonsynonymous SNV nonsynonymous SNV unknown DZIP1L:NM_173543:exon6:c.C961T:p.R321W,DZIP1L:NM_001170538:exon7:c.C961T:p.R321W, DZIP1L:uc003err.1:exon7:c.C961T:p.R321W,DZIP1L:uc003erq.3:exon6:c.C961T:p.R321W, UNKNOWN Het;G>A 858;77|49 Hom;G>A 2750;0|110 N N - 3 137843476 137843476 G T snp nonsynonymous SNV C653A A218D aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) A4GNT A4gnt ENSG00000118017 alpha-1,4-N-acetylglucosaminyltransferase chr3:137842560-137851229 This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008] Stomach Neoplasms; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit gastric adenocarcinoma with increased cell proliferation, angiogenesis, inflammation and gastric mucosal thickness. O-linked glycosylation of mucins GO:0005975;carbohydrate metabolic process;TAS|GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;TAS|GO:0009101;glycoprotein biosynthetic process;IDA|GO:0016266;O-glycan processing;TAS|GO:0050680;negative regulation of epithelial cell proliferation;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;TAS GO:0008375;acetylglucosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/A4GNT https://www.uniprot.org/uniprot/Q9UNA3 https://www.ncbi.nlm.nih.gov/omim/?term=616709 http://www.informatics.jax.org/searchtool/Search.do?query=A4GNT&submit=Quick%0D%4937ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=A4GNT rs2246945 0.653754 0.6605 0.6523 0.15 2 13 exonic exonic exonic A4GNT A4GNT ENSG00000118017 nonsynonymous SNV nonsynonymous SNV unknown A4GNT:NM_016161:exon3:c.C653A:p.A218D, A4GNT:uc003ers.2:exon3:c.C653A:p.A218D, UNKNOWN Het;G>T 1367;69|64 Hom;G>T 3847;0|143 N N - 3 138289221 138289221 C T snp nonsynonymous SNV G404A S135N polar,hydrophilic,neutral polar,hydrophilic,neutral CEP70 Cep70 ENSG00000114107 centrosomal protein 70 chr3:138213186-138313380 Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP70 https://www.uniprot.org/uniprot/Q8NHQ1 https://www.ncbi.nlm.nih.gov/omim/?term=614310 http://www.informatics.jax.org/searchtool/Search.do?query=CEP70&submit=Quick%0D%4432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP70 rs1673607 0.690695 0.5668 0.6241 0.08 1 13 exonic exonic exonic CEP70 CEP70 ENSG00000114107 nonsynonymous SNV nonsynonymous SNV unknown CEP70:NM_001288966:exon6:c.G404A:p.S135N,CEP70:NM_001288964:exon6:c.G350A:p.S117N,CEP70:NM_001288965:exon5:c.G344A:p.S115N,CEP70:NM_024491:exon6:c.G404A:p.S135N, CEP70:uc003esl.3:exon6:c.G404A:p.S135N,CEP70:uc011bml.2:exon6:c.G350A:p.S117N,CEP70:uc011bmk.2:exon5:c.G344A:p.S115N,CEP70:uc003esn.3:exon5:c.G404A:p.S135N,CEP70:uc003esm.3:exon6:c.G404A:p.S135N, UNKNOWN Het;C>T 1263;79|60 Hom;C>T 3062;0|116 N N - 3 155485302 155485302 C T snp nonsynonymous SNV G350A S117N polar,hydrophilic,neutral polar,hydrophilic,neutral C3orf33 E130311K13Rik ENSG00000174928 chromosome 3 open reading frame 33 chr3:155480401-155524140 Body Height; Body Weight GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/C3orf33 http://www.informatics.jax.org/searchtool/Search.do?query=C3orf33&submit=Quick%0D%13601ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf33 rs358733 0.841054 0.7947 0.8240 0.15 2 13 exonic exonic exonic C3orf33 C3orf33 ENSG00000174928 nonsynonymous SNV nonsynonymous SNV unknown C3orf33:NM_173657:exon5:c.G350A:p.S117N, C3orf33:uc003fam.1:exon4:c.G479A:p.S160N,C3orf33:uc003fal.1:exon5:c.G350A:p.S117N, UNKNOWN Het;C>T 747;46|39 Hom;C>T 1997;0|79 N N - 3 155520356 155520356 C T snp nonsynonymous SNV G10A A4T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral C3orf33 E130311K13Rik ENSG00000174928 chromosome 3 open reading frame 33 chr3:155480401-155524140 Body Height; Body Weight GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/C3orf33 http://www.informatics.jax.org/searchtool/Search.do?query=C3orf33&submit=Quick%0D%13601ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3orf33 rs9853408 0.0830671 0.0608 0.0302 0.31 4 13 exonic exonic exonic C3orf33 C3orf33 ENSG00000174928 nonsynonymous SNV nonsynonymous SNV unknown C3orf33:NM_173657:exon3:c.G10A:p.A4T, C3orf33:uc003fam.1:exon2:c.G139A:p.A47T,C3orf33:uc003fal.1:exon3:c.G10A:p.A4T, UNKNOWN Het;C>T 467;30|25 Hom;C>T 1019;1|41 N N - 3 157155314 157155314 C A snp nonsynonymous SNV C143A A48D aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) PTX3 Ptx3 ENSG00000163661 pentraxin 3 chr3:157154578-157161417 This gene encodes a member of the pentraxin protein family. The expression of this protein is induced by inflammatory cytokines in response to inflammatory stimuli in several mesenchymal and epithelial cell types, particularly endothelial cells and mononuclear phagocytes. The protein promotes fibrocyte differentiation and is involved in regulating inflammation and complement activation. It also plays a role in angiogenesis and tissue remodeling. The protein serves as a biomarker for several inflammatory conditions. [provided by RefSeq, Jun 2016] PTX3 production and fertility; Lymphadenitis|Mycobacterium Infections|Periodontitis; Type 2 Diabetes| edema | rosiglitazone; tuberculosis Homozygous mutant mice display female subfertility due to abnormalities of the cumulus oophorus and are susceptible to invasive pulmonary aspergillosis associated with defective recognition of conidia by alveolar macrophages and dendritic cells and impaired induction of adaptive type 2 responses. Neutrophil degranulation GO:0001878;response to yeast;IEA|GO:0006954;inflammatory response;TAS|GO:0008228;opsonization;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044869;negative regulation by host of viral exo-alpha-sialidase activity;IDA|GO:0044871;negative regulation by host of viral glycoprotein metabolic process;IDA|GO:0045087;innate immune response;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0046597;negative regulation of viral entry into host cell;IDA|GO:0050766;positive regulation of phagocytosis;IEA|GO:1903016;negative regulation of exo-alpha-sialidase activity;IDA|GO:1903019;negative regulation of glycoprotein metabolic process;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0035580;specific granule lumen;TAS|GO:1904724;tertiary granule lumen;TAS GO:0001849;complement component C1q binding;IDA|GO:0001872;(1->3)-beta-D-glucan binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046790;virion binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PTX3 https://www.ncbi.nlm.nih.gov/omim/?term=602492 http://www.informatics.jax.org/searchtool/Search.do?query=PTX3&submit=Quick%0D%11050ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTX3 rs3816527 0.714657 0.6321 0.6566 0.23 3 13 exonic exonic exonic PTX3 PTX3 ENSG00000163661 nonsynonymous SNV nonsynonymous SNV unknown PTX3:NM_002852:exon2:c.C143A:p.A48D, PTX3:uc003fbl.4:exon2:c.C143A:p.A48D, UNKNOWN Het;C>A 583;41|31 Hom;C>A 1711;0|64 N N - 3 167189607 167189607 A C snp nonsynonymous SNV T16G L6V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SERPINI2 Serpini2 ENSG00000114204 serpin family I member 2 chr3:167159577-167196792 The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013] esophageal adenocarcinoma Mice homozygous for a transgene insertion/deletion encompassing this gene display pancreatic insufficiency characterized by progressive apoptosis of pancreatic acinar cells, postnatal growth retardation, immunological anomalies, and premature death. GO:0006928;movement of cell or subcellular component;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030155;regulation of cell adhesion;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0070062;extracellular exosome;IDA GO:0004867;serine-type endopeptidase inhibitor activity;TAS|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SERPINI2 https://www.uniprot.org/uniprot/O75830 https://www.ncbi.nlm.nih.gov/omim/?term=605587 http://www.informatics.jax.org/searchtool/Search.do?query=SERPINI2&submit=Quick%0D%4442ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPINI2 rs17246389 0.167732 0.2008 0.2265 0.23 3 13 exonic exonic exonic SERPINI2 SERPINI2 ENSG00000114204 nonsynonymous SNV nonsynonymous SNV unknown SERPINI2:NM_006217:exon2:c.T16G:p.L6V,SERPINI2:NM_001012303:exon3:c.T46G:p.L16V, SERPINI2:uc003fer.2:exon1:c.T16G:p.L6V,SERPINI2:uc003fes.2:exon3:c.T46G:p.L16V,SERPINI2:uc003fet.2:exon2:c.T16G:p.L6V, UNKNOWN Het;A>C 693;20|32 Hom;A>C 1921;1|72 N N - 3 174951756 174951756 T C snp nonsynonymous SNV T581C M194T hydrophobic,neutral polar,hydrophilic,neutral NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs4371530 0.638778 0.7005 0.6928 0.15 2 13 exonic exonic exonic NAALADL2 NAALADL2 ENSG00000177694 nonsynonymous SNV nonsynonymous SNV unknown NAALADL2:NM_207015:exon3:c.T581C:p.M194T, NAALADL2:uc003fiu.1:exon3:c.T560C:p.M187T,NAALADL2:uc010hwy.2:exon3:c.T2C:p.M1T,NAALADL2:uc003fit.3:exon3:c.T581C:p.M194T, UNKNOWN Het;T>C 799;32|37 Hom;T>C 2153;0|73 N N - 3 175473047 175473047 T C snp nonsynonymous SNV T2030C L677S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral NAALADL2 Naaladl2 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 chr3:174156363-175523428 Kawasaki disease; Tobacco Use Disorder; Mucocutaneous Lymph Node Syndrome GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAALADL2 https://www.ncbi.nlm.nih.gov/omim/?term=608806 http://www.informatics.jax.org/searchtool/Search.do?query=NAALADL2&submit=Quick%0D%14076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAALADL2 rs9826737 0.980232 0.9533 0.9536 0.15 2 13 exonic exonic exonic NAALADL2 NAALADL2 ENSG00000177694 nonsynonymous SNV nonsynonymous SNV unknown NAALADL2:NM_207015:exon13:c.T2030C:p.L677S, NAALADL2:uc003fit.3:exon13:c.T2030C:p.L677S, UNKNOWN Het;T>C 844;30|39 Hom;T>C 1467;0|54 N N - 3 183558402 183558402 C G snp nonsynonymous SNV G784C V262L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PARL Parl ENSG00000175193 presenilin associated rhomboid like chr3:183547173-183602721 This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016] Optic Atrophy, Hereditary, Leber; insulin; Acquired Immunodeficiency Syndrome|Disease Progression; metabolic syndrome; diabetes, type 2; Glaucoma, Open-Angle Homozygous null mice show stunted growth, lymphocyte and neuron apoptosis, faster apoptotic cristae remodeling and cytochrome c release from mitochondria, dyspnea, cryptorchism, reduced testes and epididymi, kyphosis and premature death due to progressive cachexia sustained by multisystemic atrophy. Processing of SMDT1 GO:0006508;proteolysis;IGI|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0010821;regulation of mitochondrion organization;IMP|GO:0030162;regulation of proteolysis;IGI|GO:0033619;membrane protein proteolysis;NAS|GO:1903214;regulation of protein targeting to mitochondrion;IGI|GO:2000377;regulation of reactive oxygen species metabolic process;IMP GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004175;endopeptidase activity;IGI|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARL https://www.ncbi.nlm.nih.gov/omim/?term=607858 http://www.informatics.jax.org/searchtool/Search.do?query=PARL&submit=Quick%0D%13653ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARL rs3732581 0.455471 0.4865 0.4680 0.23 3 13 exonic exonic exonic PARL PARL ENSG00000175193 nonsynonymous SNV nonsynonymous SNV unknown PARL:NM_018622:exon7:c.G784C:p.V262L,PARL:NM_001037639:exon6:c.G634C:p.V212L, PARL:uc003fme.3:exon6:c.G634C:p.V212L,PARL:uc003fmd.3:exon7:c.G784C:p.V262L, UNKNOWN Het;C>G 883;50|44 Hom;C>G 1951;0|75 N N - 3 183754294 183754294 G C snp nonsynonymous SNV G107C G36A aliphatic,neutral aliphatic,hydrophobic,neutral HTR3D ENSG00000186090 5-hydroxytryptamine receptor 3D chr3:183749332-183757157 The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone Ligand-gated ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HTR3D https://www.ncbi.nlm.nih.gov/omim/?term=610122 http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D rs6443930 0.533746 0.5159 0.4616 0.18 2 11 exonic;splicing exonic;splicing exonic;splicing HTR3D;HTR3D(NM_001163646:exon4:c.511+1G>C) HTR3D;HTR3D(uc011bqv.2:exon4:c.511+1G>C) ENSG00000186090;ENSG00000186090(ENST00000382489:exon4:c.511+1G>C) nonsynonymous SNV nonsynonymous SNV unknown HTR3D:NM_182537:exon3:c.G107C:p.G36A,HTR3D:NM_001145143:exon4:c.G329C:p.G110A, HTR3D:uc003fmj.3:exon3:c.G107C:p.G36A,HTR3D:uc011bqu.2:exon4:c.G329C:p.G110A, UNKNOWN Het;G>C 1301;127|66 Hom;G>C 4002;0|143 N N - 3 183755822 183755822 G A snp nonsynonymous SNV G674A R225H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) HTR3D ENSG00000186090 5-hydroxytryptamine receptor 3D chr3:183749332-183757157 The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone Ligand-gated ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HTR3D https://www.ncbi.nlm.nih.gov/omim/?term=610122 http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D rs1000952 0.763978 0.6988 0.6623 0.42 5 12 exonic exonic exonic HTR3D HTR3D ENSG00000186090 nonsynonymous SNV nonsynonymous SNV unknown HTR3D:NM_001163646:exon6:c.G674A:p.R225H,HTR3D:NM_182537:exon4:c.G155A:p.R52H,HTR3D:NM_001145143:exon6:c.G530A:p.R177H, HTR3D:uc003fmj.3:exon4:c.G155A:p.R52H,HTR3D:uc011bqv.2:exon6:c.G674A:p.R225H,HTR3D:uc010hxp.3:exon2:c.G17A:p.R6H,HTR3D:uc011bqu.2:exon6:c.G530A:p.R177H, UNKNOWN Het;G>A 552;23|28 Hom;G>A 1133;0|45 N N - 3 183756702 183756702 G A snp nonsynonymous SNV G1304A R435H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) HTR3D ENSG00000186090 5-hydroxytryptamine receptor 3D chr3:183749332-183757157 The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] Nausea|Pregnancy Complications; Breast Neoplasms|Mammary Neoplasms|Nausea|Vomiting; Sleep Apnea, Obstructive; schizophrenia; Type 2 Diabetes| edema | rosiglitazone Ligand-gated ion channel transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0098655;cation transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005515;protein binding;IPI|GO:0022850;serotonin-gated cation-selective channel activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HTR3D https://www.ncbi.nlm.nih.gov/omim/?term=610122 http://www.informatics.jax.org/searchtool/Search.do?query=HTR3D&submit=Quick%0D%15563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR3D rs6789754 0.678514 0.6539 0.6006 0.31 4 13 exonic exonic exonic HTR3D HTR3D ENSG00000186090 nonsynonymous SNV nonsynonymous SNV unknown HTR3D:NM_001163646:exon8:c.G1304A:p.R435H,HTR3D:NM_182537:exon6:c.G779A:p.R260H,HTR3D:NM_001145143:exon8:c.G1154A:p.R385H, HTR3D:uc003fmj.3:exon6:c.G779A:p.R260H,HTR3D:uc011bqv.2:exon8:c.G1304A:p.R435H,HTR3D:uc010hxp.3:exon4:c.G641A:p.R214H,HTR3D:uc011bqu.2:exon8:c.G1154A:p.R385H, UNKNOWN Het;G>A 1365;63|62 Hom;G>A 3619;0|137 N N - 3 184071063 184071063 G C snp nonsynonymous SNV C1871G T624S polar,hydrophilic,neutral polar,hydrophilic,neutral CLCN2 Clcn2 ENSG00000114859 chloride voltage-gated channel 2 chr3:184063973-184079439 This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] epilepsy; cystic fibrosis; Epilepsy, Generalized Mice homozygous for a null allele exhibit abnormal brain morphology, male infertility, and abnormal eye morphology. Stimuli-sensing channels GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0060041;retina development in camera-type eye;IEA|GO:0060689;cell differentiation involved in salivary gland development;IEA|GO:1902476;chloride transmembrane transport;IBA|GO:1903959;regulation of anion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005247;voltage-gated chloride channel activity;TAS|GO:0005254;chloride channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLCN2 https://www.uniprot.org/uniprot/P51788 https://hpo.jax.org/app/browse/search?q=CLCN2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600570 http://www.informatics.jax.org/searchtool/Search.do?query=CLCN2&submit=Quick%0D%4514ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLCN2 rs9820367 0.461262 0.5938 0.4896 0.23 3 13 exonic exonic exonic CLCN2 CLCN2 ENSG00000114859 nonsynonymous SNV nonsynonymous SNV unknown CLCN2:NM_001171088:exon16:c.C1871G:p.T624S,CLCN2:NM_001171089:exon17:c.C2003G:p.T668S,CLCN2:NM_001171087:exon17:c.C1952G:p.T651S,CLCN2:NM_004366:exon17:c.C2003G:p.T668S, CLCN2:uc003foi.4:exon17:c.C2003G:p.T668S,CLCN2:uc011brm.3:exon16:c.C1871G:p.T624S,CLCN2:uc011brl.3:exon17:c.C2003G:p.T668S,CLCN2:uc003foh.4:exon7:c.C575G:p.T192S,CLCN2:uc010hya.3:exon17:c.C1952G:p.T651S, UNKNOWN Het;G>C 801;47|38 Hom;G>C 2324;0|84 N N - 3 187088656 187088656 C T snp nonsynonymous SNV C236T T79I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral RTP4 Rtp4 ENSG00000136514 receptor transporter protein 4 chr3:187086120-187089864 Echocardiography Olfactory Signaling Pathway GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IDA|GO:0006612;protein targeting to membrane;IDA|GO:0051205;protein insertion into membrane;IBA GO:0005737;cytoplasm;IDA|GO:0009986;cell surface;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0031849;olfactory receptor binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RTP4 https://www.uniprot.org/uniprot/Q96DX8 https://www.ncbi.nlm.nih.gov/omim/?term=609350 http://www.informatics.jax.org/searchtool/Search.do?query=RTP4&submit=Quick%0D%7356ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RTP4 rs1047584 0.179712 0.2216 0.2037 0.38 5 13 exonic exonic exonic RTP4 RTP4 ENSG00000136514 nonsynonymous SNV nonsynonymous SNV unknown RTP4:NM_022147:exon2:c.C236T:p.T79I, RTP4:uc003frm.3:exon2:c.C236T:p.T79I, UNKNOWN Het;C>T 957;54|44 Hom;C>T 2985;2|113 N N - 3 187416719 187416719 T C snp nonsynonymous SNV A245G Q82R polar,hydrophilic,neutral polar,hydrophilic,charged(+) RTP2 Rtp2 ENSG00000198471 receptor transporter protein 2 chr3:187416047-187420345 Mice homozygous for a knock-out allele exhibit infertility. Olfactory Signaling Pathway GO:0001580;detection of chemical stimulus involved in sensory perception of bitter taste;IBA|GO:0006612;protein targeting to membrane;IBA|GO:0051205;protein insertion into membrane;IDA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0031849;olfactory receptor binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/RTP2 https://www.ncbi.nlm.nih.gov/omim/?term=609138 http://www.informatics.jax.org/searchtool/Search.do?query=RTP2&submit=Quick%0D%16903ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RTP2 rs11707167 0.496805 0.4633 0.5998 0.08 1 13 exonic exonic exonic RTP2 RTP2 ENSG00000198471 nonsynonymous SNV nonsynonymous SNV unknown RTP2:NM_001004312:exon2:c.A245G:p.Q82R, RTP2:uc003fro.1:exon2:c.A245G:p.Q82R, UNKNOWN Het;T>C 1421;44|65 Hom;T>C 2680;0|96 N N - 3 191097966 191097966 T C snp nonsynonymous SNV T995C M332T hydrophobic,neutral polar,hydrophilic,neutral CCDC50 Ccdc50 ENSG00000152492 coiled-coil domain containing 50 chr3:191046866-191116459 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Echocardiography GO:0007605;sensory perception of sound;IMP GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC50 https://www.uniprot.org/uniprot/Q8IVM0 https://hpo.jax.org/app/browse/search?q=CCDC50&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611051 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC50&submit=Quick%0D%9558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC50 rs293813 0.644569 0.5726 0.5372 0.08 1 13 exonic exonic exonic CCDC50 CCDC50 ENSG00000152492 nonsynonymous SNV nonsynonymous SNV unknown CCDC50:NM_178335:exon7:c.T995C:p.M332T,CCDC50:NM_174908:exon6:c.T467C:p.M156T, CCDC50:uc003fsv.3:exon7:c.T995C:p.M332T,CCDC50:uc003fsw.3:exon6:c.T467C:p.M156T, UNKNOWN Het;T>C 1701;82|82 Hom;T>C 4161;0|154 N N - 3 191179193 191179193 A G snp nonsynonymous SNV A242G Q81R polar,hydrophilic,neutral polar,hydrophilic,charged(+) PYDC2 ENSG00000253548 pyrin domain containing 2 chr3:191178952-191179245 Cholesterol; Heart Rate; Body Mass Index; Body Weight; Echocardiography; Stroke; Pancreatic Neoplasms; Benzodiazepines GO:0002376;immune system process;IEA|GO:0006954;inflammatory response;IEA|GO:0009968;negative regulation of signal transduction;IEA|GO:0010804;negative regulation of tumor necrosis factor-mediated signaling pathway;IMP|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0042347;negative regulation of NF-kappaB import into nucleus;IMP|GO:0045087;innate immune response;IEA|GO:0050713;negative regulation of interleukin-1 beta secretion;IMP|GO:0050728;negative regulation of inflammatory response;IMP|GO:1900226;negative regulation of NLRP3 inflammasome complex assembly;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PYDC2 https://www.ncbi.nlm.nih.gov/omim/?term=615701 http://www.informatics.jax.org/searchtool/Search.do?query=PYDC2&submit=Quick%0D%20029ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PYDC2 rs293833 0.629992 0.7544 0.6885 0.10 1 10 exonic exonic exonic PYDC2 PYDC2 ENSG00000253548 nonsynonymous SNV nonsynonymous SNV unknown PYDC2:NM_001083308:exon1:c.A242G:p.Q81R, PYDC2:uc011bso.2:exon1:c.A242G:p.Q81R, UNKNOWN Het;A>G 1588;89|78 Hom;A>G 3834;0|142 N N - 3 195495916 195495916 G C snp nonsynonymous SNV C798G N266K polar,hydrophilic,neutral polar,hydrophilic,charged(+) MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2550240 0.428714 0.3588 0.4455 0.38 5 13 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_004532:exon6:c.C798G:p.N266K,MUC4:NM_138297:exon5:c.C645G:p.N215K,MUC4:NM_018406:exon7:c.C13506G:p.N4502K, MUC4:uc021xjm.1:exon6:c.C33G:p.N11K,MUC4:uc003fvb.3:exon6:c.C143G:p.T48S,MUC4:uc021xjn.1:exon6:c.C573G:p.N191K,MUC4:uc021xjj.1:exon7:c.C198G:p.N66K,MUC4:uc003fuz.3:exon3:c.C389G:p.T130S,MUC4:uc003fve.3:exon6:c.C143G:p.T48S,MUC4:uc003fvp.3:exon5:c.C645G:p.N215K,MUC4:uc021xjk.1:exon7:c.C729G:p.N243K,MUC4:uc021xji.1:exon7:c.C198G:p.N66K,MUC4:uc003fvo.3:exon6:c.C798G:p.N266K,MUC4:uc021xjp.1:exon7:c.C13506G:p.N4502K, UNKNOWN Het;G>C 815;39|39 Hom;G>C 2120;0|75 N N - 3 195497174 195497174 C G snp nonsynonymous SNV G603C M201I hydrophobic,neutral aliphatic,hydrophobic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2259102 0.828275 0.8714 0.7996 0.08 1 13 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_004532:exon5:c.G603C:p.M201I,MUC4:NM_138297:exon4:c.G450C:p.M150I,MUC4:NM_018406:exon6:c.G13311C:p.M4437I, MUC4:uc021xjj.1:exon6:c.G3C:p.M1I,MUC4:uc003fvp.3:exon4:c.G450C:p.M150I,MUC4:uc021xjk.1:exon6:c.G534C:p.M178I,MUC4:uc021xji.1:exon6:c.G3C:p.M1I,MUC4:uc003fvo.3:exon5:c.G603C:p.M201I,MUC4:uc021xjp.1:exon6:c.G13311C:p.M4437I, UNKNOWN Het;C>G 369;28|23 Hom;C>G 2454;0|88 N N - 3 195505664 195505664 G A snp nonsynonymous SNV C12787T P4263S hydrophobic,neutral polar,hydrophilic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2688513 0.789537 0.8743 0.8052 0.08 1 12 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_018406:exon2:c.C12787T:p.P4263S, MUC4:uc021xjn.1:exon2:c.C10T:p.P4S,MUC4:uc021xjk.1:exon2:c.C10T:p.P4S,MUC4:uc021xjp.1:exon2:c.C12787T:p.P4263S, UNKNOWN Het;G>A 943;35|44 Hom;G>A 2094;0|78 N N - 3 195505788 195505788 G C snp nonsynonymous SNV C12663G H4221Q aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral MUC4 Muc4 ENSG00000278468 mucin 4, cell surface associated chr3:195473636-195539148 The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] invitro fertilization; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma; atopy Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. GO:0007160;cell-matrix adhesion;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/MUC4 https://www.ncbi.nlm.nih.gov/omim/?term=158372 http://www.informatics.jax.org/searchtool/Search.do?query=MUC4&submit=Quick%0D%22055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC4 rs2550253 0.143371 0 0.3368 0.08 1 12 exonic exonic exonic MUC4 MUC4 ENSG00000145113 nonsynonymous SNV nonsynonymous SNV unknown MUC4:NM_018406:exon2:c.C12663G:p.H4221Q, MUC4:uc021xjp.1:exon2:c.C12663G:p.H4221Q, UNKNOWN Het;G>C 514;12|19 Hom;G>C 1053;0|35 N N - 3 196054439 196054439 T G snp nonsynonymous SNV A23C Q8P polar,hydrophilic,neutral hydrophobic,neutral TM4SF19 Tm4sf19 ENSG00000145107 transmembrane 4 L six family member 19 chr3:196046213-196065374 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TM4SF19 https://www.uniprot.org/uniprot/Q96DZ7 http://www.informatics.jax.org/searchtool/Search.do?query=TM4SF19&submit=Quick%0D%8699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TM4SF19 rs6785339 0.630791 0.5436 0.6194 0.23 3 13 exonic exonic exonic TM4SF19 TM4SF19,TM4SF19-TCTEX1D2 ENSG00000145107,ENSG00000273331 nonsynonymous SNV nonsynonymous SNV unknown TM4SF19:NM_001204898:exon2:c.A23C:p.Q8P,TM4SF19:NM_138461:exon2:c.A23C:p.Q8P,TM4SF19:NM_001204897:exon2:c.A23C:p.Q8P, TM4SF19-TCTEX1D2:uc010iad.2:exon2:c.A23C:p.Q8P,TM4SF19:uc003fwl.2:exon2:c.A23C:p.Q8P,TM4SF19:uc011btv.2:exon2:c.A23C:p.Q8P,TM4SF19:uc021xjs.1:exon2:c.A23C:p.Q8P, UNKNOWN Het;T>G 698;36|34 Hom;T>G 2012;0|73 N N - 3 197495334 197495334 G A snp nonsynonymous SNV G260A R87H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) FYTTD1 Fyttd1 ENSG00000122068 forty-two-three domain containing 1 chr3:197464050-197514467 mRNA 3'-end processing GO:0006406;mRNA export from nucleus;IEA|GO:0006810;transport;IEA|GO:0051028;mRNA transport;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0016607;nuclear speck;IDA GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FYTTD1 https://www.uniprot.org/uniprot/Q96QD9 https://www.ncbi.nlm.nih.gov/omim/?term=616933 http://www.informatics.jax.org/searchtool/Search.do?query=FYTTD1&submit=Quick%0D%5380ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FYTTD1 rs3205525 0.751997 0.7151 0.8182 0.23 3 13 exonic exonic exonic FYTTD1 FYTTD1 ENSG00000122068 nonsynonymous SNV nonsynonymous SNV unknown FYTTD1:NM_032288:exon3:c.G260A:p.R87H,FYTTD1:NM_001011537:exon4:c.G182A:p.R61H, FYTTD1:uc011bui.1:exon4:c.G182A:p.R61H,FYTTD1:uc003fyi.2:exon3:c.G260A:p.R87H,FYTTD1:uc011buk.1:exon3:c.G59A:p.R20H, UNKNOWN Het;G>A 785;72|43 Hom;G>A 3239;0|122 N N - 3 19930130 19930130 A T snp nonsynonymous SNV T1739A M580K hydrophobic,neutral polar,hydrophilic,charged(+) EFHB Efhb ENSG00000163576 EF-hand domain family member B chr3:19920964-19988517 Tobacco Use Disorder GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFHB http://www.informatics.jax.org/searchtool/Search.do?query=EFHB&submit=Quick%0D%11013ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFHB rs76305623 0.119808 0.1166 0.1609 0.08 1 13 exonic exonic exonic EFHB EFHB ENSG00000163576 nonsynonymous SNV nonsynonymous SNV unknown EFHB:NM_144715:exon10:c.T1739A:p.M580K, EFHB:uc003cbl.4:exon10:c.T1739A:p.M580K,EFHB:uc003cbm.3:exon12:c.T1349A:p.M450K, UNKNOWN Het;A>T 464;31|23 Hom;A>T 1642;0|60 N N - 3 21447799 21447799 T C snp nonsynonymous SNV T193C S65P polar,hydrophilic,neutral hydrophobic,neutral VENTXP7 rs430387 0.769968 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic VENTXP7 VENTXP7 ENSG00000236380 Na nonsynonymous SNV Na Na VENTXP7:uc003ccd.4:exon1:c.T193C:p.S65P, Na Het;T>C 399;37|21 Hom;T>C 1429;0|50 N N - 3 21447896 21447896 A G snp nonsynonymous SNV A290G H97R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) VENTXP7 rs800605 0.769369 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic VENTXP7 VENTXP7 ENSG00000236380 Na nonsynonymous SNV Na Na VENTXP7:uc003ccd.4:exon1:c.A290G:p.H97R, Na Het;A>G 746;61|37 Hom;A>G 4050;0|105 N N - 3 33877626 33877626 G A snp nonsynonymous SNV G940A A314T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral PDCD6IP Pdcd6ip ENSG00000170248 programmed cell death 6 interacting protein chr3:33839844-33911194 This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012] longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus. Uptake and function of anthrax toxins GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP https://www.ncbi.nlm.nih.gov/omim/?term=608074 http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP rs3792594 0.327276 0.2758 0.3074 0.15 2 13 exonic exonic exonic PDCD6IP PDCD6IP ENSG00000170248 nonsynonymous SNV nonsynonymous SNV unknown PDCD6IP:NM_001162429:exon8:c.G940A:p.A314T,PDCD6IP:NM_013374:exon8:c.G925A:p.A309T, PDCD6IP:uc003cfx.4:exon8:c.G925A:p.A309T,PDCD6IP:uc011axw.3:exon2:c.G268A:p.A90T,PDCD6IP:uc003cfy.4:exon8:c.G940A:p.A314T, UNKNOWN Het;G>A 1546;52|77 Hom;G>A 2730;0|100 N N - 3 33905566 33905566 C T snp nonsynonymous SNV C2204T S735L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral PDCD6IP Pdcd6ip ENSG00000170248 programmed cell death 6 interacting protein chr3:33839844-33911194 This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012] longevity; Tobacco Use Disorder; Stroke; Hemoglobin A, Glycosylated; Body Fat Distribution; Blood Pressure Determination; Diabetes Mellitus, Type 2; Cholesterol, LDL; Hip Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus. Uptake and function of anthrax toxins GO:0000281;mitotic cytokinesis;IDA|GO:0000915;actomyosin contractile ring assembly;ISS|GO:0000920;cell separation after cytokinesis;IMP|GO:0006810;transport;IEA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0019058;viral life cycle;TAS|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;IGI|GO:0045199;maintenance of epithelial cell apical/basal polarity;ISS|GO:0046755;viral budding;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;ISS|GO:0090559;regulation of membrane permeability;ISS|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP GO:0001772;immunological synapse;IDA|GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005923;bicellular tight junction;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0042470;melanosome;IEA|GO:0042641;actomyosin;ISS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:0070971;endoplasmic reticulum exit site;IMP|GO:0090543;Flemming body;IDA|GO:1903561;extracellular vesicle;IDA GO:0005515;protein binding;IPI|GO:0031871;proteinase activated receptor binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046983;protein dimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PDCD6IP https://www.ncbi.nlm.nih.gov/omim/?term=608074 http://www.informatics.jax.org/searchtool/Search.do?query=PDCD6IP&submit=Quick%0D%12656ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD6IP rs1127732 0.247804 0.1542 0.2204 0.38 5 13 exonic exonic exonic PDCD6IP PDCD6IP ENSG00000170248 nonsynonymous SNV nonsynonymous SNV unknown PDCD6IP:NM_001162429:exon16:c.C2204T:p.S735L,PDCD6IP:NM_013374:exon16:c.C2189T:p.S730L, PDCD6IP:uc003cfx.4:exon16:c.C2189T:p.S730L,PDCD6IP:uc011axw.3:exon10:c.C1532T:p.S511L,PDCD6IP:uc003cfy.4:exon16:c.C2204T:p.S735L, UNKNOWN Het;C>T 1059;46|54 Hom;C>T 2520;0|96 N N - 3 38442504 38442504 G A snp nonsynonymous SNV G1327A A443T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral XYLB Xylb ENSG00000093217 xylulokinase chr3:38388251-38462839 The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. [provided by RefSeq, Aug 2009] Electrocardiography; Tobacco Use Disorder Catabolism of glucuronate to xylulose-5-phosphate GO:0005975;carbohydrate metabolic process;TAS|GO:0005997;xylulose metabolic process;IDA|GO:0005998;xylulose catabolic process;TAS|GO:0006091;generation of precursor metabolites and energy;TAS|GO:0016310;phosphorylation;IEA|GO:0019640;glucuronate catabolic process to xylulose 5-phosphate;TAS|GO:0042732;D-xylose metabolic process;IEA|GO:0046835;carbohydrate phosphorylation;IEA GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004856;xylulokinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA http://www.genecards.org/index.php?path=/Search/keyword/XYLB https://www.uniprot.org/uniprot/O75191 https://www.ncbi.nlm.nih.gov/omim/?term=604049 http://www.informatics.jax.org/searchtool/Search.do?query=XYLB&submit=Quick%0D%2219ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XYLB rs2234628 0.0928514 0.0442 0.0708 1 0 0 intronic exonic intronic XYLB XYLB ENSG00000093217 Na nonsynonymous SNV Na Na XYLB:uc003cid.1:exon16:c.G1327A:p.A443T, Na Het;G>A 807;49|41 Hom;G>A 1997;0|73 N N - 3 39180263 39180263 G A snp nonsynonymous SNV G3803A R1268K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) TTC21A Ttc21a ENSG00000168026 tetratricopeptide repeat domain 21A chr3:39149152-39180394 Thyrotropin Mice homozygous for a knock-out allele exhibit male infertility and asthenoteratospermia characterized by reduced sperm motility and multiple sperm malformations affecting the flagella and the connecting piece. GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTC21A https://www.ncbi.nlm.nih.gov/omim/?term=611430 http://www.informatics.jax.org/searchtool/Search.do?query=TTC21A&submit=Quick%0D%12177ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC21A rs704959 0.546126 0.5351 0.6450 0.23 3 13 exonic exonic exonic TTC21A TTC21A ENSG00000168026 nonsynonymous SNV nonsynonymous SNV unknown TTC21A:NM_001105513:exon28:c.G3803A:p.R1268K,TTC21A:NM_145755:exon29:c.G3947A:p.R1316K, TTC21A:uc031ryv.1:exon11:c.G1310A:p.R437K,TTC21A:uc003cjf.2:exon10:c.G1310A:p.R437K,TTC21A:uc011ayx.1:exon28:c.G3803A:p.R1268K,TTC21A:uc003cjc.2:exon29:c.G3947A:p.R1316K, UNKNOWN Het;G>A 840;47|41 Hom;G>A 2078;0|73 N N - 3 39184959 39184959 C T snp nonsynonymous SNV G1357A V453I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CSRNP1 Csrnp1 ENSG00000144655 cysteine and serine rich nuclear protein 1 chr3:39183346-39196053 This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Diabetes Mellitus Mice homozygous for a gene trapped allele exhibit postnatal lethality and skeletal and craniofacial defects. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048705;skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA|GO:0060325;face morphogenesis;IEA GO:0005634;nucleus;IEA GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CSRNP1 https://www.uniprot.org/uniprot/Q96S65 https://www.ncbi.nlm.nih.gov/omim/?term=606458 http://www.informatics.jax.org/searchtool/Search.do?query=CSRNP1&submit=Quick%0D%8639ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSRNP1 rs1274958 0.784545 0.7709 0.7698 0.08 1 13 exonic exonic exonic CSRNP1 CSRNP1 ENSG00000144655 nonsynonymous SNV nonsynonymous SNV unknown CSRNP1:NM_033027:exon5:c.G1357A:p.V453I, CSRNP1:uc003cjh.3:exon5:c.G1357A:p.V453I,CSRNP1:uc003cjg.3:exon5:c.G1357A:p.V453I, UNKNOWN Het;C>T 694;77|38 Hom;C>T 1836;0|65 N N - 3 41925398 41925398 C T snp nonsynonymous SNV G1624A A542T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ULK4 Ulk4 ENSG00000168038 unc-51 like kinase 4 chr3:41288090-42003922 This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016] Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow. GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ULK4 https://www.ncbi.nlm.nih.gov/omim/?term=617010 http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4 rs1052501 0.688498 0.6831 0.7885 0.08 1 13 exonic exonic exonic ULK4 ULK4 ENSG00000168038 nonsynonymous SNV nonsynonymous SNV unknown ULK4:NM_017886:exon17:c.G1624A:p.A542T, ULK4:uc003ckw.2:exon17:c.G1624A:p.A542T,ULK4:uc003ckx.1:exon17:c.G1624A:p.A542T,ULK4:uc003ckv.4:exon17:c.G1624A:p.A542T, UNKNOWN Het;C>T 1296;75|67 Hom;C>T 3932;2|152 N N - 3 41960006 41960006 T C snp nonsynonymous SNV A670G I224V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ULK4 Ulk4 ENSG00000168038 unc-51 like kinase 4 chr3:41288090-42003922 This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016] Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow. GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ULK4 https://www.ncbi.nlm.nih.gov/omim/?term=617010 http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4 rs1716975 0.679912 0.6747 0.7847 0.08 1 13 exonic exonic exonic ULK4 ULK4 ENSG00000168038 nonsynonymous SNV nonsynonymous SNV unknown ULK4:NM_017886:exon7:c.A670G:p.I224V, ULK4:uc003ckw.2:exon7:c.A670G:p.I224V,ULK4:uc003ckx.1:exon7:c.A670G:p.I224V,ULK4:uc003ckv.4:exon7:c.A670G:p.I224V, UNKNOWN Het;T>C 436;29|24 Hom;T>C 1179;0|45 N N - 3 41996136 41996136 T C snp nonsynonymous SNV A116G K39R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ULK4 Ulk4 ENSG00000168038 unc-51 like kinase 4 chr3:41288090-42003922 This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016] Blood Pressure; Insulin; Brain; Diastolic blood pressure; Tobacco Use Disorder; Tunica Media; Eosinophils; Multiple Myeloma; hypertension; C-Reactive Protein Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow. GO:0000226;microtubule cytoskeleton organization;IMP|GO:0006468;protein phosphorylation;IEA|GO:0010975;regulation of neuron projection development;IMP|GO:0016310;phosphorylation;IEA|GO:0043408;regulation of MAPK cascade;IMP|GO:0046328;regulation of JNK cascade;IMP|GO:0090036;regulation of protein kinase C signaling;IMP|GO:1900744;regulation of p38MAPK cascade;IMP|GO:2001222;regulation of neuron migration;IMP GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ULK4 https://www.ncbi.nlm.nih.gov/omim/?term=617010 http://www.informatics.jax.org/searchtool/Search.do?query=ULK4&submit=Quick%0D%12180ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ULK4 rs2272007 0.682109 0.6784 0.7869 0.31 4 13 exonic exonic exonic ULK4 ULK4 ENSG00000168038 nonsynonymous SNV nonsynonymous SNV unknown ULK4:NM_017886:exon2:c.A116G:p.K39R, ULK4:uc003ckw.2:exon2:c.A116G:p.K39R,ULK4:uc003ckx.1:exon2:c.A116G:p.K39R,ULK4:uc003ckv.4:exon2:c.A116G:p.K39R, UNKNOWN Het;T>C 671;19|30 Hom;T>C 944;0|31 N N - 3 43095245 43095245 A G snp nonsynonymous SNV A1442G Q481R polar,hydrophilic,neutral polar,hydrophilic,charged(+) FAM198A Fam198a ENSG00000144649 family with sequence similarity 198 member A chr3:43020759-43101703 Tobacco Use Disorder GO:0005576;extracellular region;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/FAM198A https://www.uniprot.org/uniprot/Q9UFP1 http://www.informatics.jax.org/searchtool/Search.do?query=FAM198A&submit=Quick%0D%8638ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM198A rs2280565 0.319489 0 0.4827 1 0 0 intronic exonic intronic FAM198A FAM198A ENSG00000144649,ENSG00000273291 Na nonsynonymous SNV Na Na FAM198A:uc010hih.3:exon3:c.A1442G:p.Q481R,FAM198A:uc010hii.3:exon2:c.A236G:p.Q79R, Na Het;A>G 360;18|13 Hom;A>G 592;0|18 N N - 3 44929287 44929287 G C snp nonsynonymous SNV G300C E100D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) TGM4 Tgm4 ENSG00000281886 transglutaminase 4 chr3:44916100-44956482 Body Height Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired. GO:0018149;peptide cross-linking;IEA GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGM4 https://www.ncbi.nlm.nih.gov/omim/?term=600585 http://www.informatics.jax.org/searchtool/Search.do?query=TGM4&submit=Quick%0D%22346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM4 rs2271087 0.427117 0.2543 0.3792 0.42 5 12 exonic exonic exonic TGM4 TGM4 ENSG00000163810 nonsynonymous SNV nonsynonymous SNV unknown TGM4:NM_003241:exon3:c.G300C:p.E100D, TGM4:uc003coa.2:exon3:c.G300C:p.E100D,TGM4:uc003coc.4:exon3:c.G300C:p.E100D, UNKNOWN Het;G>C 2225;127|114 Hom;G>C 7257;0|275 N N - 3 44943389 44943389 G A snp nonsynonymous SNV G937A E313K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) TGM4 Tgm4 ENSG00000281886 transglutaminase 4 chr3:44916100-44956482 Body Height Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired. GO:0018149;peptide cross-linking;IEA GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGM4 https://www.ncbi.nlm.nih.gov/omim/?term=600585 http://www.informatics.jax.org/searchtool/Search.do?query=TGM4&submit=Quick%0D%22346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM4 rs1995641 0.555112 0.4330 0.4899 0.15 2 13 exonic exonic exonic TGM4 TGM4 ENSG00000163810 nonsynonymous SNV nonsynonymous SNV unknown TGM4:NM_003241:exon8:c.G937A:p.E313K, TGM4:uc003coc.4:exon8:c.G937A:p.E313K, UNKNOWN Het;G>A 1027;85|56 Hom;G>A 3526;0|129 N N - 3 44948479 44948479 C T snp nonsynonymous SNV C1114T R372C polar,hydrophilic,charged(+) polar,hydrophobic,neutral TGM4 Tgm4 ENSG00000281886 transglutaminase 4 chr3:44916100-44956482 Body Height Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired. GO:0018149;peptide cross-linking;IEA GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGM4 https://www.ncbi.nlm.nih.gov/omim/?term=600585 http://www.informatics.jax.org/searchtool/Search.do?query=TGM4&submit=Quick%0D%22346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM4 rs3749195 0.674521 0.5324 0.5714 0.42 5 12 exonic exonic exonic TGM4 TGM4 ENSG00000163810 nonsynonymous SNV nonsynonymous SNV unknown TGM4:NM_003241:exon10:c.C1114T:p.R372C, TGM4:uc003coc.4:exon10:c.C1114T:p.R372C, UNKNOWN Het;C>T 317;26|15 Hom;C>T 1351;0|44 N N - 3 44948590 44948590 G A snp nonsynonymous SNV G1225A V409I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TGM4 Tgm4 ENSG00000281886 transglutaminase 4 chr3:44916100-44956482 Body Height Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired. GO:0018149;peptide cross-linking;IEA GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGM4 https://www.ncbi.nlm.nih.gov/omim/?term=600585 http://www.informatics.jax.org/searchtool/Search.do?query=TGM4&submit=Quick%0D%22346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM4 rs9876921 0.619409 0.4700 0.5521 0.08 1 13 exonic exonic exonic TGM4 TGM4 ENSG00000163810 nonsynonymous SNV nonsynonymous SNV unknown TGM4:NM_003241:exon10:c.G1225A:p.V409I, TGM4:uc003coc.4:exon10:c.G1225A:p.V409I, UNKNOWN Het;G>A 1725;76|85 Hom;G>A 3225;0|126 N N - 3 45052775 45052775 G C snp nonsynonymous SNV G820C V274L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral EXOSC7 Exosc7 ENSG00000075914 exosome component 7 chr3:45016733-45077558 Major pathway of rRNA processing in the nucleolus and cytosol GO:0006364;rRNA processing;TAS|GO:0006401;RNA catabolic process;NAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000175;3'-5'-exoribonuclease activity;TAS|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EXOSC7 https://www.uniprot.org/uniprot/Q15024 https://www.ncbi.nlm.nih.gov/omim/?term=606488 http://www.informatics.jax.org/searchtool/Search.do?query=EXOSC7&submit=Quick%0D%1568ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOSC7 rs6794 0.705871 0.5690 0.5940 0.08 1 13 exonic exonic exonic EXOSC7 EXOSC7 ENSG00000075914 nonsynonymous SNV nonsynonymous SNV unknown EXOSC7:NM_015004:exon8:c.G820C:p.V274L, EXOSC7:uc003coh.1:exon8:c.G625C:p.V209L,EXOSC7:uc010his.1:exon6:c.G577C:p.V193L,EXOSC7:uc003coi.2:exon8:c.G820C:p.V274L, UNKNOWN Het;G>C 494;49|28 Hom;G>C 2358;0|84 N N - 3 45077123 45077123 G A snp nonsynonymous SNV G316A G106S aliphatic,neutral polar,hydrophilic,neutral CLEC3B Clec3b ENSG00000163815 C-type lectin domain family 3 member B chr3:45043040-45077563 osteoarthritis Mice homozygous for a null allele develop pronounced cervical lordosis and thoracic kyphosis associated with wedge-shaped deformities of the vertebrae, growth plate irregularities, and an Platelet degranulation GO:0001503;ossification;IEP|GO:0002576;platelet degranulation;TAS|GO:0010756;positive regulation of plasminogen activation;ISS|GO:0030282;bone mineralization;IDA|GO:0071310;cellular response to organic substance;IEP|GO:0071560;cellular response to transforming growth factor beta stimulus;IEP GO:0001652;granular component;IDA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0031012;extracellular matrix;ISS|GO:0031089;platelet dense granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IDA|GO:0008201;heparin binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0036143;kringle domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLEC3B https://www.ncbi.nlm.nih.gov/omim/?term=187520 http://www.informatics.jax.org/searchtool/Search.do?query=CLEC3B&submit=Quick%0D%11100ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC3B rs13963 0.563498 0.3992 0.4854 0.15 2 13 exonic exonic exonic CLEC3B CLEC3B ENSG00000163815 nonsynonymous SNV nonsynonymous SNV unknown CLEC3B:NM_003278:exon3:c.G316A:p.G106S, CLEC3B:uc003cok.4:exon3:c.G316A:p.G106S, UNKNOWN Het;G>A 1991;62|87 Hom;G>A 2770;1|101 N N - 3 69230061 69230061 G A snp nonsynonymous SNV C2840T S947L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral FRMD4B Frmd4b ENSG00000114541 FERM domain containing 4B chr3:69219141-69591734 This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014] Celiac disease; Albumins; Potassium; Tobacco Use Disorder; Hip; Celiac Disease; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Cardiomyopathies|Heart Failure; Body Mass Index GO:0090162;establishment of epithelial cell polarity;IEA GO:0001726;ruffle;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/FRMD4B https://www.uniprot.org/uniprot/Q9Y2L6 https://www.ncbi.nlm.nih.gov/omim/?term=617467 http://www.informatics.jax.org/searchtool/Search.do?query=FRMD4B&submit=Quick%0D%4476ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRMD4B rs9831516 0.770367 0.8826 0.9032 0.69 9 13 exonic exonic exonic FRMD4B FRMD4B ENSG00000114541 nonsynonymous SNV nonsynonymous SNV unknown FRMD4B:NM_015123:exon21:c.C2840T:p.S947L, FRMD4B:uc011bga.1:exon16:c.C2372T:p.S791L,FRMD4B:uc003dnv.2:exon21:c.C2840T:p.S947L,FRMD4B:uc003dnu.2:exon11:c.C1796T:p.S599L, UNKNOWN Het;G>A 843;63|43 Hom;G>A 2830;0|104 N N - 3 75786662 75786662 A T snp nonsynonymous SNV T2112A N704K polar,hydrophilic,neutral polar,hydrophilic,charged(+) ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs202184453 0 0 0.3537 0.25 3 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon5:c.T2112A:p.N704K,ZNF717:NM_001290209:exon5:c.T1962A:p.N654K,ZNF717:NM_001128223:exon5:c.T2112A:p.N704K, ZNF717:uc011bgi.2:exon5:c.T2112A:p.N704K, UNKNOWN Het;A>T 1718;11|43 Hom;A>T 917;0|20 N N - 3 75786672 75786672 C T snp nonsynonymous SNV G2102A S701N polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs200017345 0 0 0.3735 0.08 1 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon5:c.G2102A:p.S701N,ZNF717:NM_001290209:exon5:c.G1952A:p.S651N,ZNF717:NM_001128223:exon5:c.G2102A:p.S701N, ZNF717:uc011bgi.2:exon5:c.G2102A:p.S701N, UNKNOWN Het;C>T 2116;10|51 Hom;C>T 1592;0|35 N N - 3 75786681 75786681 G A snp nonsynonymous SNV C2093T P698L hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs111677009 0 0 0.4014 0.17 2 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon5:c.C2093T:p.P698L,ZNF717:NM_001290209:exon5:c.C1943T:p.P648L,ZNF717:NM_001128223:exon5:c.C2093T:p.P698L, ZNF717:uc011bgi.2:exon5:c.C2093T:p.P698L, UNKNOWN Het;G>A 2415;12|58 Hom;G>A 1907;0|43 N N - 3 75786684 75786684 G T snp nonsynonymous SNV C2090A T697K polar,hydrophilic,neutral polar,hydrophilic,charged(+) ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs201345045 0 0 0.4071 0.33 4 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon5:c.C2090A:p.T697K,ZNF717:NM_001290209:exon5:c.C1940A:p.T647K,ZNF717:NM_001128223:exon5:c.C2090A:p.T697K, ZNF717:uc011bgi.2:exon5:c.C2090A:p.T697K, UNKNOWN Het;G>T 2415;12|60 Hom;G>T 1932;0|44 N N - 3 75786737 75786737 A T snp nonsynonymous SNV T2037A N679K polar,hydrophilic,neutral polar,hydrophilic,charged(+) ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs78297221 0 0 0.5127 0.33 4 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon5:c.T2037A:p.N679K,ZNF717:NM_001290209:exon5:c.T1887A:p.N629K,ZNF717:NM_001128223:exon5:c.T2037A:p.N679K, ZNF717:uc011bgi.2:exon5:c.T2037A:p.N679K, UNKNOWN Het;A>T 5234;37|127 Hom;A>T 4247;0|95 N N - 3 75786748 75786748 C T snp nonsynonymous SNV G2026A D676N polar,hydrophilic,charged(-) polar,hydrophilic,neutral ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs112332186 0 0 0.5129 0.08 1 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon5:c.G2026A:p.D676N,ZNF717:NM_001290209:exon5:c.G1876A:p.D626N,ZNF717:NM_001128223:exon5:c.G2026A:p.D676N, ZNF717:uc011bgi.2:exon5:c.G2026A:p.D676N, UNKNOWN Het;C>T 5879;37|139 Hom;C>T 4775;0|103 N N - 3 75786760 75786761 TC T indel frameshift substitution 2013_2014A ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs145576551 0 0.4547 0.4946 1 0 0 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 frameshift substitution frameshift substitution unknown ZNF717:NM_001290208:exon5:c.2013_2014A,ZNF717:NM_001290209:exon5:c.1863_1864A,ZNF717:NM_001128223:exon5:c.2013_2014A, ZNF717:uc011bgi.2:exon5:c.2013_2014A, UNKNOWN Het;-C 5995;45|150 Hom;-C 4896;0|112 N N - 3 75786888 75786888 C T snp nonsynonymous SNV G1886A R629H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs1615736 0 0 0.5067 0.08 1 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon5:c.G1886A:p.R629H,ZNF717:NM_001290209:exon5:c.G1736A:p.R579H,ZNF717:NM_001128223:exon5:c.G1886A:p.R629H, ZNF717:uc011bgi.2:exon5:c.G1886A:p.R629H, UNKNOWN Het;C>T 1702;14|46 Hom;C>T 2061;0|50 N N - 3 75786894 75786895 GT G indel frameshift substitution 1879_1880C ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs144168413 0 0.4346 0.5047 1 0 0 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 frameshift substitution frameshift substitution unknown ZNF717:NM_001290208:exon5:c.1879_1880C,ZNF717:NM_001290209:exon5:c.1729_1730C,ZNF717:NM_001128223:exon5:c.1879_1880C, ZNF717:uc011bgi.2:exon5:c.1879_1880C, UNKNOWN Het;-T 1662;13|42 Hom;-T 2008;0|45 N N - 3 75788105 75788105 C T snp nonsynonymous SNV G669A M223I hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs796745611 0 0 0 0.08 1 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon5:c.G669A:p.M223I,ZNF717:NM_001290209:exon5:c.G519A:p.M173I,ZNF717:NM_001128223:exon5:c.G669A:p.M223I, ZNF717:uc011bgi.2:exon5:c.G669A:p.M223I, UNKNOWN Het;C>T 271;40|9 Hom;C>T 197;0|5 N N - 3 75788109 75788109 G A snp nonsynonymous SNV C665T A222V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs796849627 0 0 0 0.17 2 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon5:c.C665T:p.A222V,ZNF717:NM_001290209:exon5:c.C515T:p.A172V,ZNF717:NM_001128223:exon5:c.C665T:p.A222V, ZNF717:uc011bgi.2:exon5:c.C665T:p.A222V, UNKNOWN Het;G>A 268;40|10 Hom;G>A 197;0|5 N N - 3 75788130 75788130 C T snp nonsynonymous SNV G644A G215E aliphatic,neutral polar,hydrophilic,charged(-) ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs113708852 0 0 0.0018 0.25 3 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon5:c.G644A:p.G215E,ZNF717:NM_001290209:exon5:c.G494A:p.G165E,ZNF717:NM_001128223:exon5:c.G644A:p.G215E, ZNF717:uc011bgi.2:exon5:c.G644A:p.G215E, UNKNOWN Het;C>T 223;56|10 Hom;C>T 197;0|5 N N - 3 75788137 75788137 C T snp nonsynonymous SNV G637A E213K polar,hydrophilic,charged(-) polar,hydrophilic,charged(+) ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs199883677 0 0 0.0016 0.08 1 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon5:c.G637A:p.E213K,ZNF717:NM_001290209:exon5:c.G487A:p.E163K,ZNF717:NM_001128223:exon5:c.G637A:p.E213K, ZNF717:uc011bgi.2:exon5:c.G637A:p.E213K, UNKNOWN Het;C>T 214;58|10 Hom;C>T 197;0|5 N N - 3 75788152 75788152 T C snp nonsynonymous SNV A622G T208A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs76179262 0 0 0.0001 0.08 1 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon5:c.A622G:p.T208A,ZNF717:NM_001290209:exon5:c.A472G:p.T158A,ZNF717:NM_001128223:exon5:c.A622G:p.T208A, ZNF717:uc011bgi.2:exon5:c.A622G:p.T208A, UNKNOWN Het;T>C 191;67|10 Hom;T>C 197;0|5 N N - 3 75790478 75790478 G T snp nonsynonymous SNV C226A Q76K polar,hydrophilic,neutral polar,hydrophilic,charged(+) ZNF717 Zfp39 ENSG00000227124 zinc finger protein 717 chr3:75758794-75834734 This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016] Fibrinogen; Eosinophils; Erythrocyte Indices; Hypertrophy, Left Ventricular; Frontal Lobe; Cell Adhesion Molecules; Calcium-Binding Proteins; Diabetes Mellitus; Cholesterol, LDL; Blood Pressure; Memory; Cholesterol; Hippocampus; Carotid Artery Diseases Generic Transcription Pathway GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF717 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF717&submit=Quick%0D%18741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF717 rs142265598 0 0 0.0314 0.33 4 12 exonic exonic exonic ZNF717 ZNF717 ENSG00000227124 nonsynonymous SNV nonsynonymous SNV unknown ZNF717:NM_001290208:exon4:c.C226A:p.Q76K,ZNF717:NM_001290209:exon4:c.C76A:p.Q26K,ZNF717:NM_001290210:exon4:c.C226A:p.Q76K,ZNF717:NM_001128223:exon4:c.C226A:p.Q76K, ZNF717:uc011bgi.2:exon4:c.C226A:p.Q76K, UNKNOWN Het;G>T 31;2|3 Hom;G>T 71;0|4 N N - 3 8675539 8675539 G A snp nonsynonymous SNV C86T P29L hydrophobic,neutral aliphatic,hydrophobic,neutral SSUH2 Ssu2 ENSG00000125046 ssu-2 homolog (C. elegans) chr3:8661086-8786726 Heart Rate Mice heterozygous or homozygous for a knock-in allele exhibit abnormal tooth morphology, narrowed pulp cavity, increased dentin thickness, abnormal tooth attrition and collagenous attachment to the gum. GO:0042476;odontogenesis;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA http://www.genecards.org/index.php?path=/Search/keyword/SSUH2 https://www.uniprot.org/uniprot/Q9Y2M2 https://www.ncbi.nlm.nih.gov/omim/?term=617479 http://www.informatics.jax.org/searchtool/Search.do?query=SSUH2&submit=Quick%0D%5736ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SSUH2 rs2276800 0.333666 0.3185 0.2289 0.08 1 13 exonic exonic exonic SSUH2 SSUH2 ENSG00000125046 nonsynonymous SNV nonsynonymous SNV unknown SSUH2:NM_015931:exon4:c.C86T:p.P29L, SSUH2:uc003bqz.4:exon10:c.C86T:p.P29L,SSUH2:uc003bqy.4:exon11:c.C86T:p.P29L,SSUH2:uc003bqu.4:exon4:c.C86T:p.P29L, UNKNOWN Het;G>A 1958;82|91 Hom;G>A 4492;1|166 N N - 3 88189341 88189341 T C snp nonsynonymous SNV T881C I294T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ZNF654 Zfp654 ENSG00000175105 zinc finger protein 654 chr3:88188254-88193815 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF654 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF654&submit=Quick%0D%13636ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF654 rs7653652 0.783147 0.7868 0.8426 0.15 2 13 exonic exonic exonic ZNF654 ZNF654 ENSG00000175105 nonsynonymous SNV nonsynonymous SNV unknown ZNF654:NM_018293:exon1:c.T881C:p.I294T, ZNF654:uc003dqv.3:exon1:c.T881C:p.I294T, UNKNOWN Het;T>C 1098;63|56 Hom;T>C 2834;0|95 N N - 3 97594261 97594261 G A snp nonsynonymous SNV G4223A G1408E aliphatic,neutral polar,hydrophilic,charged(-) CRYBG3 Crybg3 ENSG00000080200 crystallin beta-gamma domain containing 3 chr3:97595819-97663810 Tobacco Use Disorder GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRYBG3 https://www.uniprot.org/uniprot/Q68DQ2 http://www.informatics.jax.org/searchtool/Search.do?query=CRYBG3&submit=Quick%0D%1723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYBG3 rs6782766 0.474641 0 0 0.67 2 3 exonic exonic downstream CRYBG3 CRYBG3 ENSG00000233280 nonsynonymous SNV nonsynonymous SNV Na CRYBG3:NM_153605:exon4:c.G4223A:p.G1408E, CRYBG3:uc021xbn.2:exon4:c.G4223A:p.G1408E, Na Het;G>A 1930;66|85 Hom;G>A 2765;3|108 N N - 3 97595379 97595379 G A snp nonsynonymous SNV G5341A V1781M aliphatic,hydrophobic,neutral hydrophobic,neutral CRYBG3 Crybg3 ENSG00000080200 crystallin beta-gamma domain containing 3 chr3:97595819-97663810 Tobacco Use Disorder GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRYBG3 https://www.uniprot.org/uniprot/Q68DQ2 http://www.informatics.jax.org/searchtool/Search.do?query=CRYBG3&submit=Quick%0D%1723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYBG3 rs6786354 0.475439 0 0 0.00 0 3 exonic exonic upstream CRYBG3 CRYBG3 ENSG00000080200 nonsynonymous SNV nonsynonymous SNV Na CRYBG3:NM_153605:exon4:c.G5341A:p.V1781M, CRYBG3:uc021xbn.2:exon4:c.G5341A:p.V1781M, Na Het;G>A 1079;80|54 Hom;G>A 3200;1|119 N N - 3 97660106 97660106 A C snp nonsynonymous SNV A8620C N2874H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) CRYBG3 Crybg3 ENSG00000080200 crystallin beta-gamma domain containing 3 chr3:97595819-97663810 Tobacco Use Disorder GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRYBG3 https://www.uniprot.org/uniprot/Q68DQ2 http://www.informatics.jax.org/searchtool/Search.do?query=CRYBG3&submit=Quick%0D%1723ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRYBG3 rs4857302 0.48143 0.4445 0.5083 0.40 4 10 exonic exonic exonic CRYBG3 CRYBG3 ENSG00000080200 nonsynonymous SNV nonsynonymous SNV unknown CRYBG3:NM_153605:exon20:c.A8620C:p.N2874H, CRYBG3:uc021xbn.2:exon20:c.A8620C:p.N2874H, UNKNOWN Het;A>C 1129;84|56 Hom;A>C 3216;1|117 N N - 3 97664725 97664725 C T snp nonsynonymous SNV G1156A A386T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral MINA Mina rs2172257 0.478035 0.4390 0.5041 0.08 1 13 exonic exonic exonic MINA MINA ENSG00000170854 nonsynonymous SNV nonsynonymous SNV unknown MINA:NM_153182:exon9:c.G1156A:p.A386T,MINA:NM_001261829:exon9:c.G1153A:p.A385T,MINA:NM_001042533:exon9:c.G1156A:p.A386T,MINA:NM_032778:exon9:c.G1153A:p.A385T, MINA:uc003dsb.1:exon9:c.G1156A:p.A386T,MINA:uc003dsc.1:exon9:c.G1153A:p.A385T,MINA:uc003drz.2:exon9:c.G1156A:p.A386T,MINA:uc003dsa.2:exon9:c.G1153A:p.A385T, UNKNOWN Het;C>T 1177;55|58 Hom;C>T 1970;0|75 N N - 3 9990800 9990800 G C snp nonsynonymous SNV C1000G R334G polar,hydrophilic,charged(+) aliphatic,neutral PRRT3 Prrt3 ENSG00000163704 proline rich transmembrane protein 3 chr3:9987226-9994078 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRRT3 http://www.informatics.jax.org/searchtool/Search.do?query=PRRT3&submit=Quick%0D%11065ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRT3 rs59465469 0.38139 0.3874 0.2820 0.08 1 13 exonic exonic exonic PRRT3 PRRT3 ENSG00000163704 nonsynonymous SNV nonsynonymous SNV unknown PRRT3:NM_207351:exon2:c.C1000G:p.R334G, PRRT3:uc003bul.2:exon2:c.C1000G:p.R334G,PRRT3:uc003bum.3:exon2:c.C1000G:p.R334G, UNKNOWN Het;G>C 594;33|25 Hom;G>C 1687;0|60 N N - 3 9991101 9991101 C G snp nonsynonymous SNV G699C L233F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral PRRT3 Prrt3 ENSG00000163704 proline rich transmembrane protein 3 chr3:9987226-9994078 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRRT3 http://www.informatics.jax.org/searchtool/Search.do?query=PRRT3&submit=Quick%0D%11065ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRT3 rs55847233 0.382388 0.3935 0.2778 0.08 1 13 exonic exonic exonic PRRT3 PRRT3 ENSG00000163704 nonsynonymous SNV nonsynonymous SNV unknown PRRT3:NM_207351:exon2:c.G699C:p.L233F, PRRT3:uc003bul.2:exon2:c.G699C:p.L233F,PRRT3:uc003bum.3:exon2:c.G699C:p.L233F, UNKNOWN Het;C>G 1611;78|72 Hom;C>G 4041;0|140 N N - 3 9991163 9991163 A G snp nonsynonymous SNV T637C S213P polar,hydrophilic,neutral hydrophobic,neutral PRRT3 Prrt3 ENSG00000163704 proline rich transmembrane protein 3 chr3:9987226-9994078 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRRT3 http://www.informatics.jax.org/searchtool/Search.do?query=PRRT3&submit=Quick%0D%11065ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRRT3 rs55847610 0.381989 0.3857 0.2776 0.08 1 13 exonic exonic exonic PRRT3 PRRT3 ENSG00000163704 nonsynonymous SNV nonsynonymous SNV unknown PRRT3:NM_207351:exon2:c.T637C:p.S213P, PRRT3:uc003bul.2:exon2:c.T637C:p.S213P,PRRT3:uc003bum.3:exon2:c.T637C:p.S213P, UNKNOWN Het;A>G 1402;86|60 Hom;A>G 3992;0|138 N N - 4 100485255 100485255 G A snp nonsynonymous SNV G3A M1I hydrophobic,neutral aliphatic,hydrophobic,neutral MTTP Mttp ENSG00000138823 microsomal triglyceride transfer protein chr4:100484918-100545156 MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008] lipids; hyperinsulinemia; obesity, visceral; Fatty Liver|Hepatitis C, Chronic|Liver Cirrhosis; alcohol; Hypercholesterolemia|LDLC levels; Insulin Resistance|Metabolic Syndrome X; Glomerulonephritis, IGA; Fatty Liver|Insulin Resistance; null; Metabolic Diseases; Cardiovascular Diseases|; Fatty Liver|Hepatitis C, Chronic; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; lipid metabolism disorders; Hepatitis B|Hepatitis B, Chronic; Cardiovascular Diseases; cholesterol; triglycerides; cholesterol, LDL; plasma cholesterol levels and body mass index; cholesterol; cholesterol, LDL; insulin; apoB; lipoprotein profiles; bone density; Peripheral Vascular Diseases; atherosclerosis, coronary; lipoprotein; lipids; liver steatosis; triglycerides; cholesterol, LDL; lipoproteins; diabetes, type 2; vitamin E and carotenoids; Atherosclerosis|Cardiovascular Diseases; heart disease; longevity; Type 2 Diabetes| edema | rosiglitazone; body mass; cholesterol, LDL; cholesterol, total; insulin; apoB; lipoproteins; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; lipoproteins; obesity; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; Chronic renal failure|Kidney Failure, Chronic; steatohepatitis, non-alcoholic; blood pressure, arterial; Cholesterol, HDL; ApoB-48; blood pressure, arterial diabetes, type 2 glucose insulin; Mental Competency; BMI- Edema rosiglitazone or pioglitazone; Perphenazine; cholesterol, HDL cholesterol, LDL insulin lipoprotein liver disease, nonalcoholic fatty; cholesterol; apoA-IV; apoE; triacylglycerols; Hyperlipidemias|Hypertension Most embryos homozygous for a reporter allele die at midgestation displaying delayed growth, neurodevelopmental anomalies, impaired erythropoiesis, deficient yolk sac lipoprotein production, hemorrhage and necrosis. Heterozygous mutant mice display altered plasma lipid and lipoprotein profiles. Chylomicron assembly GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007623;circadian rhythm;IEA|GO:0015914;phospholipid transport;IDA|GO:0034197;triglyceride transport;IDA|GO:0034377;plasma lipoprotein particle assembly;IDA|GO:0034378;chylomicron assembly;TAS|GO:0034379;very-low-density lipoprotein particle assembly;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042632;cholesterol homeostasis;IEA|GO:0042953;lipoprotein transport;IEA|GO:0051592;response to calcium ion;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0031982;vesicle;IEA|GO:0043235;receptor complex;IDA GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005548;phospholipid transporter activity;IDA|GO:0008289;lipid binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTTP https://www.uniprot.org/uniprot/P55157 https://hpo.jax.org/app/browse/search?q=MTTP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=157147 http://www.informatics.jax.org/searchtool/Search.do?query=MTTP&submit=Quick%0D%7814ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTTP rs11944752 0.25 0 0.3319 0.18 2 11 exonic exonic exonic MTTP MTTP ENSG00000138823 nonsynonymous SNV nonsynonymous SNV unknown MTTP:NM_001300785:exon1:c.G3A:p.M1I, MTTP:uc011cej.2:exon1:c.G3A:p.M1I, UNKNOWN Het;G>A 760;28|36 Hom;G>A 1997;0|75 N N - 4 100504664 100504664 T C snp nonsynonymous SNV T464C I155T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral MTTP Mttp ENSG00000138823 microsomal triglyceride transfer protein chr4:100484918-100545156 MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008] lipids; hyperinsulinemia; obesity, visceral; Fatty Liver|Hepatitis C, Chronic|Liver Cirrhosis; alcohol; Hypercholesterolemia|LDLC levels; Insulin Resistance|Metabolic Syndrome X; Glomerulonephritis, IGA; Fatty Liver|Insulin Resistance; null; Metabolic Diseases; Cardiovascular Diseases|; Fatty Liver|Hepatitis C, Chronic; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; lipid metabolism disorders; Hepatitis B|Hepatitis B, Chronic; Cardiovascular Diseases; cholesterol; triglycerides; cholesterol, LDL; plasma cholesterol levels and body mass index; cholesterol; cholesterol, LDL; insulin; apoB; lipoprotein profiles; bone density; Peripheral Vascular Diseases; atherosclerosis, coronary; lipoprotein; lipids; liver steatosis; triglycerides; cholesterol, LDL; lipoproteins; diabetes, type 2; vitamin E and carotenoids; Atherosclerosis|Cardiovascular Diseases; heart disease; longevity; Type 2 Diabetes| edema | rosiglitazone; body mass; cholesterol, LDL; cholesterol, total; insulin; apoB; lipoproteins; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; lipoproteins; obesity; body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar; Chronic renal failure|Kidney Failure, Chronic; steatohepatitis, non-alcoholic; blood pressure, arterial; Cholesterol, HDL; ApoB-48; blood pressure, arterial diabetes, type 2 glucose insulin; Mental Competency; BMI- Edema rosiglitazone or pioglitazone; Perphenazine; cholesterol, HDL cholesterol, LDL insulin lipoprotein liver disease, nonalcoholic fatty; cholesterol; apoA-IV; apoE; triacylglycerols; Hyperlipidemias|Hypertension Most embryos homozygous for a reporter allele die at midgestation displaying delayed growth, neurodevelopmental anomalies, impaired erythropoiesis, deficient yolk sac lipoprotein production, hemorrhage and necrosis. Heterozygous mutant mice display altered plasma lipid and lipoprotein profiles. Chylomicron assembly GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0007623;circadian rhythm;IEA|GO:0015914;phospholipid transport;IDA|GO:0034197;triglyceride transport;IDA|GO:0034377;plasma lipoprotein particle assembly;IDA|GO:0034378;chylomicron assembly;TAS|GO:0034379;very-low-density lipoprotein particle assembly;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042632;cholesterol homeostasis;IEA|GO:0042953;lipoprotein transport;IEA|GO:0051592;response to calcium ion;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0031982;vesicle;IEA|GO:0043235;receptor complex;IDA GO:0005319;lipid transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005548;phospholipid transporter activity;IDA|GO:0008289;lipid binding;IEA|GO:0034185;apolipoprotein binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MTTP https://www.uniprot.org/uniprot/P55157 https://hpo.jax.org/app/browse/search?q=MTTP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=157147 http://www.informatics.jax.org/searchtool/Search.do?query=MTTP&submit=Quick%0D%7814ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MTTP rs3816873 0.2498 0.2627 0.2504 0.23 3 13 exonic exonic exonic MTTP MTTP ENSG00000138823 nonsynonymous SNV nonsynonymous SNV unknown MTTP:NM_001300785:exon3:c.T464C:p.I155T,MTTP:NM_000253:exon4:c.T383C:p.I128T, MTTP:uc003hvb.3:exon3:c.T383C:p.I128T,MTTP:uc011cej.2:exon3:c.T464C:p.I155T,MTTP:uc003hvc.4:exon4:c.T383C:p.I128T, UNKNOWN Het;T>C 354;42|22 Hom;T>C 1683;0|61 N N - 4 109478108 109478108 C G snp nonsynonymous SNV G262C E88Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral RPL34-AS1 rs11731416 0.582268 0 0.5532 1 0 0 ncRNA_exonic exonic ncRNA_exonic RPL34-AS1 RPL34-AS1 ENSG00000234492 Na nonsynonymous SNV Na Na RPL34-AS1:uc011cfl.1:exon2:c.G262C:p.E88Q, Na Het;C>G 1116;47|50 Hom;C>G 2780;1|100 N N - 4 110581363 110581363 T A snp nonsynonymous SNV T188A I63N aliphatic,hydrophobic,neutral polar,hydrophilic,neutral CCDC109B Ccdc109b rs4698744 0.294928 0.2589 0.4083 0.08 1 13 exonic exonic exonic CCDC109B CCDC109B ENSG00000005059 nonsynonymous SNV nonsynonymous SNV unknown CCDC109B:NM_017918:exon3:c.T188A:p.I63N, CCDC109B:uc011cfs.2:exon3:c.T188A:p.I63N,CCDC109B:uc010imf.2:exon3:c.T188A:p.I63N, UNKNOWN Het;T>A 962;40|44 Hom;T>A 1905;0|68 N N - 4 111398208 111398208 A G snp nonsynonymous SNV A638G Q213R polar,hydrophilic,neutral polar,hydrophilic,charged(+) ENPEP Enpep ENSG00000138792 glutamyl aminopeptidase chr4:111286889-111486441 Glomerulosclerosis, Focal Segmental; Alcoholism; Albumins; Cholesterol; Atrial fibrillation/atrial flutter; Tobacco Use Disorder Mice homozygous for a targeted null mutation are viable, fertile and morphologically unaffected with normal B and T cell development. Metabolism of Angiotensinogen to Angiotensins GO:0001525;angiogenesis;IEA|GO:0002003;angiotensin maturation;TAS|GO:0002005;angiotensin catabolic process in blood;NAS|GO:0003081;regulation of systemic arterial blood pressure by renin-angiotensin;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;NAS|GO:0008283;cell proliferation;NAS|GO:0016477;cell migration;IDA|GO:0032835;glomerulus development;IEA|GO:0043171;peptide catabolic process;IBA GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005903;brush border;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA GO:0004177;aminopeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;EXP|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ENPEP https://www.uniprot.org/uniprot/Q07075 https://www.ncbi.nlm.nih.gov/omim/?term=138297 http://www.informatics.jax.org/searchtool/Search.do?query=ENPEP&submit=Quick%0D%7804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENPEP rs10004516 0.847644 0.8780 0.8650 0.08 1 13 exonic exonic exonic ENPEP ENPEP ENSG00000138792 nonsynonymous SNV nonsynonymous SNV unknown ENPEP:NM_001977:exon1:c.A638G:p.Q213R, ENPEP:uc003iab.4:exon1:c.A638G:p.Q213R, UNKNOWN Het;A>G 976;47|43 Hom;A>G 2354;0|82 N N - 4 1164277 1164277 C G snp nonsynonymous SNV G724C V242L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SPON2 Spon2 ENSG00000159674 spondin 2 chr4:1160720-1202750 recombination rate (males); Tobacco Use Disorder; recombination rate (females) Mice homozygous for disruptions in this gene have an essentially normal phenotype. There is some alteration in succeptibility to bacterial infection however. O-glycosylation of TSR domain-containing proteins GO:0002376;immune system process;IEA|GO:0002448;mast cell mediated immunity;IEA|GO:0007155;cell adhesion;IEA|GO:0007411;axon guidance;TAS|GO:0008228;opsonization;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043152;induction of bacterial agglutination;IEA|GO:0045087;innate immune response;IEA|GO:0050832;defense response to fungus;IEA|GO:0051607;defense response to virus;IEA|GO:0060907;positive regulation of macrophage cytokine production;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA GO:0001530;lipopolysaccharide binding;IEA|GO:0003823;antigen binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPON2 https://www.ncbi.nlm.nih.gov/omim/?term=605918 http://www.informatics.jax.org/searchtool/Search.do?query=SPON2&submit=Quick%0D%10361ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPON2 rs2279279 0.553315 0.5389 0.6396 0.38 5 13 exonic exonic exonic SPON2 SPON2 ENSG00000159674 nonsynonymous SNV nonsynonymous SNV unknown SPON2:NM_001128325:exon6:c.G724C:p.V242L,SPON2:NM_001199021:exon7:c.G724C:p.V242L,SPON2:NM_012445:exon5:c.G724C:p.V242L, SPON2:uc003gco.4:exon5:c.G724C:p.V242L,SPON2:uc010ibr.3:exon6:c.G724C:p.V242L,SPON2:uc021xkj.1:exon7:c.G724C:p.V242L, UNKNOWN Het;C>G 368;14|15 Hom;C>G 858;0|31 N N - 4 1165130 1165130 G T snp nonsynonymous SNV C365A A122E aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) SPON2 Spon2 ENSG00000159674 spondin 2 chr4:1160720-1202750 recombination rate (males); Tobacco Use Disorder; recombination rate (females) Mice homozygous for disruptions in this gene have an essentially normal phenotype. There is some alteration in succeptibility to bacterial infection however. O-glycosylation of TSR domain-containing proteins GO:0002376;immune system process;IEA|GO:0002448;mast cell mediated immunity;IEA|GO:0007155;cell adhesion;IEA|GO:0007411;axon guidance;TAS|GO:0008228;opsonization;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032755;positive regulation of interleukin-6 production;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043152;induction of bacterial agglutination;IEA|GO:0045087;innate immune response;IEA|GO:0050832;defense response to fungus;IEA|GO:0051607;defense response to virus;IEA|GO:0060907;positive regulation of macrophage cytokine production;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA GO:0001530;lipopolysaccharide binding;IEA|GO:0003823;antigen binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPON2 https://www.ncbi.nlm.nih.gov/omim/?term=605918 http://www.informatics.jax.org/searchtool/Search.do?query=SPON2&submit=Quick%0D%10361ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPON2 rs11247975 0.554513 0.5609 0.6624 0.17 2 12 exonic exonic exonic SPON2 SPON2 ENSG00000159674 nonsynonymous SNV nonsynonymous SNV unknown SPON2:NM_001128325:exon4:c.C365A:p.A122E,SPON2:NM_001199021:exon5:c.C365A:p.A122E,SPON2:NM_012445:exon3:c.C365A:p.A122E, SPON2:uc003gco.4:exon3:c.C365A:p.A122E,SPON2:uc010ibr.3:exon4:c.C365A:p.A122E,SPON2:uc003gcm.1:exon1:c.C119A:p.A40E,SPON2:uc021xkj.1:exon5:c.C365A:p.A122E, UNKNOWN Het;G>T 380;14|16 Hom;G>T 1071;0|38 N N - 4 13548911 13548911 C A snp nonsynonymous SNV G31T A11S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral LOC285548 rs73231543 0.105431 0 0.1952 1 0 0 ncRNA_exonic exonic ncRNA_intronic LINC01096 LOC285548 ENSG00000246095 Na nonsynonymous SNV Na Na LOC285548:uc011bxa.1:exon1:c.G31T:p.A11S, Na Het;C>A 2434;111|110 Hom;C>A 4985;1|184 N N - 4 13604182 13604182 T C snp nonsynonymous SNV A4342G T1448A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral BOD1L1 Bod1l ENSG00000038219 biorientation of chromosomes in cell division 1 like 1 chr4:13570362-13629347 Tobacco Use Disorder GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0031297;replication fork processing;IDA GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/BOD1L1 https://www.uniprot.org/uniprot/Q8NFC6 https://www.ncbi.nlm.nih.gov/omim/?term=616746 http://www.informatics.jax.org/searchtool/Search.do?query=BOD1L1&submit=Quick%0D%798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BOD1L1 rs17745676 0.132788 0.1499 0.1445 0.15 2 13 exonic exonic exonic BOD1L1 BOD1L1 ENSG00000038219 nonsynonymous SNV nonsynonymous SNV unknown BOD1L1:NM_148894:exon10:c.A4342G:p.T1448A, BOD1L1:uc003gmz.1:exon10:c.A4342G:p.T1448A,BOD1L1:uc010idr.1:exon10:c.A2353G:p.T785A, UNKNOWN Het;T>C 3707;135|161 Hom;T>C 8380;3|296 N N - 4 13604418 13604418 G C snp nonsynonymous SNV C4106G A1369G aliphatic,hydrophobic,neutral aliphatic,neutral BOD1L1 Bod1l ENSG00000038219 biorientation of chromosomes in cell division 1 like 1 chr4:13570362-13629347 Tobacco Use Disorder GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0031297;replication fork processing;IDA GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/BOD1L1 https://www.uniprot.org/uniprot/Q8NFC6 https://www.ncbi.nlm.nih.gov/omim/?term=616746 http://www.informatics.jax.org/searchtool/Search.do?query=BOD1L1&submit=Quick%0D%798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BOD1L1 rs17745712 0.138778 0.1546 0.1459 0.08 1 13 exonic exonic exonic BOD1L1 BOD1L1 ENSG00000038219 nonsynonymous SNV nonsynonymous SNV unknown BOD1L1:NM_148894:exon10:c.C4106G:p.A1369G, BOD1L1:uc003gmz.1:exon10:c.C4106G:p.A1369G,BOD1L1:uc010idr.1:exon10:c.C2117G:p.A706G, UNKNOWN Het;G>C 2140;107|99 Hom;G>C 5364;2|187 N N - 4 13615174 13615174 G A snp nonsynonymous SNV C1286T T429M polar,hydrophilic,neutral hydrophobic,neutral BOD1L1 Bod1l ENSG00000038219 biorientation of chromosomes in cell division 1 like 1 chr4:13570362-13629347 Tobacco Use Disorder GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0031297;replication fork processing;IDA GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA http://www.genecards.org/index.php?path=/Search/keyword/BOD1L1 https://www.uniprot.org/uniprot/Q8NFC6 https://www.ncbi.nlm.nih.gov/omim/?term=616746 http://www.informatics.jax.org/searchtool/Search.do?query=BOD1L1&submit=Quick%0D%798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BOD1L1 rs2035820 0.13738 0.1527 0.1455 0.15 2 13 exonic exonic exonic BOD1L1 BOD1L1 ENSG00000038219 nonsynonymous SNV nonsynonymous SNV unknown BOD1L1:NM_148894:exon5:c.C1286T:p.T429M, BOD1L1:uc003gmz.1:exon5:c.C1286T:p.T429M, UNKNOWN Het;G>A 1396;71|70 Hom;G>A 3546;2|131 N N - 4 1374774 1374774 C T snp nonsynonymous SNV C1859T P620L hydrophobic,neutral aliphatic,hydrophobic,neutral UVSSA Uvssa ENSG00000163945 UV stimulated scaffold protein A chr4:1341054-1381837 The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Longevity Gap-filling DNA repair synthesis and ligation in TC-NER GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0009411;response to UV;IMP|GO:0016567;protein ubiquitination;IMP GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UVSSA https://hpo.jax.org/app/browse/search?q=UVSSA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614632 http://www.informatics.jax.org/searchtool/Search.do?query=UVSSA&submit=Quick%0D%11141ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UVSSA rs28522910 0.696486 0.6907 0.6946 0.54 7 13 exonic exonic exonic UVSSA UVSSA ENSG00000163945 nonsynonymous SNV nonsynonymous SNV unknown UVSSA:NM_020894:exon12:c.C1859T:p.P620L, UVSSA:uc010ibv.3:exon5:c.C512T:p.P171L,UVSSA:uc003gde.4:exon12:c.C1859T:p.P620L, UNKNOWN Het;C>T 795;42|41 Hom;C>T 1591;0|61 N N - 4 1388350 1388350 G GTGCCCATGTGGAGTGCCCGCCTGCTCACACA indel frameshift substitution 51_51delinsGTGCCCATGTGGAGTGCCCGCCTGCTCACACA CRIPAK ENSG00000179979 cysteine rich PAK1 inhibitor chr4:1385340-1389780 CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008] HIV Infections|[X]Human immunodeficiency virus disease GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK https://www.ncbi.nlm.nih.gov/omim/?term=610203 http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK rs750778284 0 0 0.0576 1 0 0 exonic exonic exonic CRIPAK CRIPAK ENSG00000179979 frameshift substitution frameshift substitution unknown CRIPAK:NM_175918:exon1:c.51_51delinsGTGCCCATGTGGAGTGCCCGCCTGCTCACACA, CRIPAK:uc003gdf.2:exon1:c.51_51delinsGTGCCCATGTGGAGTGCCCGCCTGCTCACACA, UNKNOWN Het;+TGCCCATGTGGAGTGCCCGCCTGCTCACACA 1286;47|29 Hom;+TGCCCATGTGGAGTGCCCGCCTGCTCACACA 3753;0|73 N N - 4 1388429 1388429 G A snp nonsynonymous SNV G130A A44T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral CRIPAK ENSG00000179979 cysteine rich PAK1 inhibitor chr4:1385340-1389780 CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008] HIV Infections|[X]Human immunodeficiency virus disease GO:0006469;negative regulation of protein kinase activity;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043627;response to estrogen;IDA|GO:0051493;regulation of cytoskeleton organization;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRIPAK https://www.ncbi.nlm.nih.gov/omim/?term=610203 http://www.informatics.jax.org/searchtool/Search.do?query=CRIPAK&submit=Quick%0D%14418ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIPAK rs79298048 0.188498 0.3037 0.2488 0.17 2 12 exonic exonic exonic CRIPAK CRIPAK ENSG00000179979 nonsynonymous SNV nonsynonymous SNV unknown CRIPAK:NM_175918:exon1:c.G130A:p.A44T, CRIPAK:uc003gdf.2:exon1:c.G130A:p.A44T, UNKNOWN Het;G>A 1707;59|51 Hom;G>A 3994;0|98 N N - 4 164435265 164435265 A C snp nonsynonymous SNV A194C Q65P polar,hydrophilic,neutral hydrophobic,neutral TMA16 Tma16 ENSG00000198498 translation machinery associated 16 homolog chr4:164415594-164441691 GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005840;ribosome;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMA16 http://www.informatics.jax.org/searchtool/Search.do?query=TMA16&submit=Quick%0D%16909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMA16 rs2304802 0.379992 0.4068 0.4516 0.08 1 13 exonic exonic exonic TMA16 TMA16 ENSG00000198498 nonsynonymous SNV nonsynonymous SNV unknown TMA16:NM_018352:exon4:c.A194C:p.Q65P, TMA16:uc003iqq.4:exon4:c.A194C:p.Q65P, UNKNOWN Het;A>C 639;37|36 Hom;A>C 1721;0|70 N N - 4 164440581 164440581 T C snp nonsynonymous SNV T527C I176T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral TMA16 Tma16 ENSG00000198498 translation machinery associated 16 homolog chr4:164415594-164441691 GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005840;ribosome;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMA16 http://www.informatics.jax.org/searchtool/Search.do?query=TMA16&submit=Quick%0D%16909ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMA16 rs1561736 0.382588 0.4159 0.4533 0.08 1 13 exonic exonic exonic TMA16 TMA16 ENSG00000198498 nonsynonymous SNV nonsynonymous SNV unknown TMA16:NM_018352:exon7:c.T527C:p.I176T, TMA16:uc003iqq.4:exon7:c.T527C:p.I176T, UNKNOWN Het;T>C 2250;103|107 Hom;T>C 5238;1|193 N N - 4 169799448 169799448 A G snp nonsynonymous SNV A406G S136G polar,hydrophilic,neutral aliphatic,neutral PALLD Palld ENSG00000129116 palladin, cytoskeletal associated protein chr4:169418217-169849608 This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Insulin; Tobacco Use Disorder; Pancreatic Neoplasms; Hematocrit; pancreatic cancer; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; metabolic syndrome; Hemoglobins; Cholesterol; Blood Proteins; Coronary Disease|Coronary heart disease|Myocardial Infarction; myocardial infarction; Type 2 Diabetes| edema | rosiglitazone; Angiography; response to iloperidone treatment (QT prolongation); Coronary Disease|Coronary heart disease; Glucose; Stroke; Cholesterol, HDL; Isoxazoles; Apoplexy|Atherosclerosis|Coronary Disease|Coronary heart disease|Stroke; Myocardial Infarction; Iron; Body Height All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin. GO:0003334;keratinocyte development;IEA|GO:0003382;epithelial cell morphogenesis;IEA|GO:0007010;cytoskeleton organization;NAS|GO:0016477;cell migration;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0001726;ruffle;IEA|GO:0002102;podosome;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030018;Z disc;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0051371;muscle alpha-actinin binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/PALLD https://www.uniprot.org/uniprot/Q8WX93 https://hpo.jax.org/app/browse/search?q=PALLD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608092 http://www.informatics.jax.org/searchtool/Search.do?query=PALLD&submit=Quick%0D%6215ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PALLD rs62333013 0.478634 0 0.6464 0.18 2 11 exonic exonic exonic PALLD PALLD ENSG00000129116 nonsynonymous SNV nonsynonymous SNV unknown PALLD:NM_001166110:exon2:c.A406G:p.S136G, PALLD:uc003irw.3:exon2:c.A406G:p.S136G, UNKNOWN Het;A>G 291;28|18 Hom;A>G 1067;0|42 N N - 4 17643848 17643848 G A snp nonsynonymous SNV C2350T R784W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral FAM184B Fam184b ENSG00000047662 family with sequence similarity 184 member B chr4:17630929-17783135 Body Height Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities. http://www.genecards.org/index.php?path=/Search/keyword/FAM184B https://www.uniprot.org/uniprot/Q9ULE4 http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B rs2286771 0.538538 0 0.6618 0.15 2 13 exonic exonic exonic FAM184B FAM184B ENSG00000047662 nonsynonymous SNV nonsynonymous SNV unknown FAM184B:NM_015688:exon13:c.C2350T:p.R784W, FAM184B:uc003gpm.4:exon13:c.C2350T:p.R784W, UNKNOWN Het;G>A 173;20|12 Hom;G>A 542;0|21 N N - 4 17660082 17660082 C T snp nonsynonymous SNV G1928A R643H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) FAM184B Fam184b ENSG00000047662 family with sequence similarity 184 member B chr4:17630929-17783135 Body Height Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities. http://www.genecards.org/index.php?path=/Search/keyword/FAM184B https://www.uniprot.org/uniprot/Q9ULE4 http://www.informatics.jax.org/searchtool/Search.do?query=FAM184B&submit=Quick%0D%878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM184B rs1860596 0.604433 0.5797 0.5824 0.15 2 13 exonic exonic exonic FAM184B FAM184B ENSG00000047662 nonsynonymous SNV nonsynonymous SNV unknown FAM184B:NM_015688:exon10:c.G1928A:p.R643H, FAM184B:uc003gpm.4:exon10:c.G1928A:p.R643H, UNKNOWN Het;C>T 1063;61|52 Hom;C>T 3525;0|131 N N - 4 178256913 178256913 C G snp nonsynonymous SNV C350G P117R hydrophobic,neutral polar,hydrophilic,charged(+) NEIL3 Neil3 ENSG00000109674 nei like DNA glycosylase 3 chr4:178230990-178284097 NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008] Adenomatous Polyposis Coli|; Abdominal Fat; Chronic renal failure|Kidney Failure, Chronic; Body Weights and Measures; heart rate variability traits; Subcutaneous Fat; Heart Rate Mice homozygous for a knock-out allele exhibit decreased neurogenesis following hypoxia-ischemia. GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IDA|GO:0006289;nucleotide-excision repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0008152;metabolic process;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000405;bubble DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003684;damaged DNA binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003697;single-stranded DNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0003906;DNA-(apurinic or apyrimidinic site) lyase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0016799;hydrolase activity, hydrolyzing N-glycosyl compounds;IEA|GO:0016829;lyase activity;IEA|GO:0019104;DNA N-glycosylase activity;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NEIL3 https://www.uniprot.org/uniprot/Q8TAT5 https://www.ncbi.nlm.nih.gov/omim/?term=608934 http://www.informatics.jax.org/searchtool/Search.do?query=NEIL3&submit=Quick%0D%3870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEIL3 rs7689099 0.071885 0.0985 0.1033 0.62 8 13 exonic exonic exonic NEIL3 NEIL3 ENSG00000109674 nonsynonymous SNV nonsynonymous SNV unknown NEIL3:NM_018248:exon3:c.C350G:p.P117R, NEIL3:uc010irs.3:exon2:c.C59G:p.P20R,NEIL3:uc003iut.2:exon3:c.C350G:p.P117R, UNKNOWN Het;C>G 1030;55|54 Hom;C>G 2518;2|97 N N - 4 25363901 25363901 T A snp nonsynonymous SNV T1187A L396H aliphatic,hydrophobic,neutral aromatic,polar,hydrophilic,charged(+) ZCCHC4 Zcchc4 ENSG00000168228 zinc finger CCHC-type containing 4 chr4:25314407-25372005 GO:0032259;methylation;IEA GO:0003676;nucleic acid binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC4 https://www.ncbi.nlm.nih.gov/omim/?term=611792 http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC4&submit=Quick%0D%12215ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC4 rs315675 0.876398 0.9196 0.8744 0.15 2 13 exonic exonic exonic ZCCHC4 ZCCHC4 ENSG00000168228 nonsynonymous SNV nonsynonymous SNV unknown ZCCHC4:NM_024936:exon10:c.T1187A:p.L396H, ZCCHC4:uc003grl.4:exon10:c.T1187A:p.L396H, UNKNOWN Het;T>A 1447;43|69 Hom;T>A 2006;2|80 N N - 4 40778162 40778162 T G snp nonsynonymous SNV T922G S308A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral NSUN7 Nsun7 ENSG00000179299 NOP2/Sun RNA methyltransferase family member 7 chr4:40751914-40812002 Males homozygous for an ENU-induced mutation are either infertile or subfertile. Mutant sperm exhibit poor progressive motility linked to rigidity of the flagellar midpiece and abnormal electron density patterns in the mitochondrial sheath. GO:0032259;methylation;IEA GO:0003723;RNA binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NSUN7 https://www.ncbi.nlm.nih.gov/omim/?term=617185 http://www.informatics.jax.org/searchtool/Search.do?query=NSUN7&submit=Quick%0D%14322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NSUN7 rs2437323 0.729233 0.8249 0.7673 0.23 3 13 exonic exonic exonic NSUN7 NSUN7 ENSG00000179299 nonsynonymous SNV nonsynonymous SNV unknown NSUN7:NM_024677:exon7:c.T922G:p.S308A, NSUN7:uc003gvi.4:exon7:c.T922G:p.S308A,NSUN7:uc003gvj.4:exon7:c.T922G:p.S308A, UNKNOWN Het;T>G 1194;57|52 Hom;T>G 2974;1|103 N N - 4 4304522 4304522 A C snp nonsynonymous SNV A959C Y320S aromatic,polar,hydrophobic polar,hydrophilic,neutral ZBTB49 Zbtb49 ENSG00000168826 zinc finger and BTB domain containing 49 chr4:4291924-4323513 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IDA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0015630;microtubule cytoskeleton;IDA GO:0001223;transcription coactivator binding;IPI|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZBTB49 https://www.ncbi.nlm.nih.gov/omim/?term=616238 http://www.informatics.jax.org/searchtool/Search.do?query=ZBTB49&submit=Quick%0D%12353ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBTB49 rs2920217 0.202676 0.2464 0.2635 0.08 1 13 exonic exonic exonic ZBTB49 ZBTB49 ENSG00000168826 nonsynonymous SNV nonsynonymous SNV unknown ZBTB49:NM_145291:exon3:c.A959C:p.Y320S, ZBTB49:uc010icz.3:exon1:c.A59C:p.Y20S,ZBTB49:uc003ghu.3:exon3:c.A959C:p.Y320S, UNKNOWN Het;A>C 950;41|41 Hom;A>C 3094;0|102 N N - 4 47034626 47034626 C G snp nonsynonymous SNV C365G P122R hydrophobic,neutral polar,hydrophilic,charged(+) GABRB1 Gabrb1 ENSG00000163288 gamma-aminobutyric acid type A receptor beta1 subunit chr4:46995740-47428461 The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008] Body Height; epilepsy, temporal lobe; alcohol abuse; Tobacco Use Disorder; alcohol consumption; Bulimia; alcohol withdrawal alcoholism; Waist Circumference; Creatinine; attention deficit disorder conduct disorder oppositional defiant disorder; Echocardiography; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; panic disorder; alcohol dependence; epilepsy; Bipolar Disorder; manic-depressive illness Mice heterozygous for an ENU or spontaneous mutation exhibit alcohol preference with increased tonic inhibition, female infertility and hypothalamic pituitary axis dysfunction. GABA A receptor activation GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007165;signal transduction;IEA|GO:0007214;gamma-aminobutyric acid signaling pathway;IMP|GO:0009636;response to toxic substance;IEA|GO:0021954;central nervous system neuron development;IEA|GO:0032570;response to progesterone;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0042698;ovulation cycle;IEA|GO:0071420;cellular response to histamine;IEA|GO:0098656;anion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IDA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0034707;chloride channel complex;IEA|GO:0043235;receptor complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IDA GO:0004890;GABA-A receptor activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005253;anion channel activity;IEA|GO:0005254;chloride channel activity;IEA|GO:0015276;ligand-gated ion channel activity;IEA|GO:0022851;GABA-gated chloride ion channel activity;IDA|GO:0050811;GABA receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GABRB1 https://hpo.jax.org/app/browse/search?q=GABRB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=137190 http://www.informatics.jax.org/searchtool/Search.do?query=GABRB1&submit=Quick%0D%10926ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRB1 rs41309288 0.584265 0 0.6109 1 0 0 intronic exonic intronic GABRB1 GABRB1 ENSG00000163288 Na nonsynonymous SNV Na Na GABRB1:uc011bzd.1:exon3:c.C365G:p.P122R, Na Het;C>G 240;3|8 Hom;C>G 601;0|16 N N - 4 47514685 47514685 C T snp nonsynonymous SNV C128T T43I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ATP10D Atp10d ENSG00000145246 ATPase phospholipid transporting 10D (putative) chr4:47487305-47595503 Tobacco Use Disorder; sphingolipid concentrations; normal variation; Coronary Artery Disease; Sphingolipids; Glucosylceramides; Acquired Immunodeficiency Syndrome|Disease Progression The C57BL/6J strain carries a spontaneous knockout mutation. Viability and fertility are unaffected. Ion transport by P-type ATPases GO:0006810;transport;IEA|GO:0006812;cation transport;NAS|GO:0006869;lipid transport;IEA|GO:0015914;phospholipid transport;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0045332;phospholipid translocation;NAS GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;NAS|GO:0004012;phospholipid-translocating ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP10D https://www.uniprot.org/uniprot/Q9P241 http://www.informatics.jax.org/searchtool/Search.do?query=ATP10D&submit=Quick%0D%8713ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP10D rs33995001 0.304912 0.3897 0.3865 0.31 4 13 exonic exonic exonic ATP10D ATP10D ENSG00000145246 nonsynonymous SNV nonsynonymous SNV unknown ATP10D:NM_020453:exon2:c.C128T:p.T43I, ATP10D:uc003gxk.1:exon2:c.C128T:p.T43I,ATP10D:uc003gxj.3:exon2:c.C128T:p.T43I, UNKNOWN Het;C>T 876;132|54 Hom;C>T 3804;2|144 N N - 4 6303354 6303354 G A snp nonsynonymous SNV G1832A R611H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) WFS1 Wfs1 ENSG00000109501 wolframin ER transmembrane glycoprotein chr4:6271576-6304992 This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; type 2 diabetes and other traits; suicide; mood disorders; Hearing Loss; Diabetes Mellitus|Diabetes Mellitus, Type 2; diabetes, type 2 | diabetes, type 1; depressive disorder, major; bipolar disorder; Diabetes Mellitus, Type 2; diabetes, type 2; Autism; Diabetes Mellitus, Type 2|Glucose Intolerance|Prediabetic State; Type 2 diabetes|reduced prostate cancer risk; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; metabolic syndrome; Headache|[D]Pain in head NOS; diabetes, type 2; bipolar disorder; Type 2 Diabetes| edema | rosiglitazone; null; Diabetes Mellitus|Diabetes Mellitus, Type 2|; bipolar disorder; obesity; Parkinson's disease Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance. Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress. Post-translational protein phosphorylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001822;kidney development;IMP|GO:0003091;renal water homeostasis;IMP|GO:0006983;ER overload response;IC|GO:0007601;visual perception;IMP|GO:0007605;sensory perception of sound;IMP|GO:0022417;protein maturation by protein folding;IC|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031016;pancreas development;IEA|GO:0031398;positive regulation of protein ubiquitination;IDA|GO:0032469;endoplasmic reticulum calcium ion homeostasis;IDA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0042048;olfactory behavior;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043069;negative regulation of programmed cell death;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043524;negative regulation of neuron apoptotic process;IMP|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045762;positive regulation of adenylate cyclase activity;IEA|GO:0045927;positive regulation of growth;ISS|GO:0050821;protein stabilization;IDA|GO:0050877;neurological system process;IMP|GO:0051247;positive regulation of protein metabolic process;IDA|GO:0051928;positive regulation of calcium ion transport;IDA|GO:0055074;calcium ion homeostasis;IDA|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903892;negative regulation of ATF6-mediated unfolded protein response;IDA|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IMP GO:0000502;proteasome complex;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030425;dendrite;ISS GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0033613;activating transcription factor binding;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/WFS1 https://www.uniprot.org/uniprot/O76024 https://hpo.jax.org/app/browse/search?q=WFS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606201 http://www.informatics.jax.org/searchtool/Search.do?query=WFS1&submit=Quick%0D%3855ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFS1 rs734312 0.469249 0.4012 0.5367 0.46 6 13 exonic exonic exonic WFS1 WFS1 ENSG00000109501 nonsynonymous SNV nonsynonymous SNV unknown WFS1:NM_006005:exon8:c.G1832A:p.R611H,WFS1:NM_001145853:exon8:c.G1832A:p.R611H, WFS1:uc003gix.3:exon8:c.G1832A:p.R611H,WFS1:uc003giz.3:exon5:c.G1286A:p.R429H,WFS1:uc003giy.3:exon8:c.G1832A:p.R611H, UNKNOWN Het;G>A 2482;78|112 Hom;G>A 4893;0|173 N N - 4 68380215 68380215 G A snp nonsynonymous SNV C1021T L341F aliphatic,hydrophobic,neutral aromatic,hydrophobic,neutral CENPC Cenpc1 ENSG00000145241 centromere protein C chr4:68337521-68411324 Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008] Parkinson Disease; multiple sclerosis (severity); Bipolar Disorder; Cholesterol Homozygous mutation of this gene results in early embryonic lethality and mitotic abnormalities. Mitotic Prometaphase GO:0000278;mitotic cell cycle;IMP|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0051301;cell division;IEA|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IBA|GO:0051382;kinetochore assembly;IMP|GO:0051455;attachment of spindle microtubules to kinetochore involved in homologous chromosome segregation;IBA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;TAS|GO:0000777;condensed chromosome kinetochore;IEA|GO:0000778;condensed nuclear chromosome kinetochore;IBA|GO:0000780;condensed nuclear chromosome, centromeric region;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005721;pericentric heterochromatin;IDA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0031618;nuclear pericentric heterochromatin;IEA GO:0003677;DNA binding;TAS|GO:0019237;centromeric DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/CENPC https://www.uniprot.org/uniprot/Q03188 https://www.ncbi.nlm.nih.gov/omim/?term=117141 http://www.informatics.jax.org/searchtool/Search.do?query=CENPC&submit=Quick%0D%8710ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPC rs11250 0.700679 0.6118 0.6572 0.25 3 12 exonic exonic exonic CENPC CENPC1 ENSG00000145241 nonsynonymous SNV nonsynonymous SNV unknown CENPC:NM_001812:exon8:c.C1021T:p.L341F, CENPC1:uc010ihm.1:exon8:c.C1021T:p.L341F,CENPC1:uc003hdd.1:exon8:c.C1021T:p.L341F, UNKNOWN Het;G>A 2966;128|134 Hom;G>A 6757;2|242 N N - 4 70391429 70391429 G A snp nonsynonymous SNV C19T H7Y aromatic,polar,hydrophilic,charged(+) aromatic,polar,hydrophobic UGT2B4 ENSG00000156096 UDP glucuronosyltransferase family 2 member B4 chr4:70345883-70391732 Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Hearing Loss; breast cancer; testosterone; estradiol; Type 2 Diabetes| edema | rosiglitazone; breast cancer; testosterone; estradiol; morphine glucuronidation; mammographic breast density; carvedilol pharmacokinetics; atrasentan phamacokinetics; breast cancer; Adenomatous Polyposis Coli|Duodenal Neoplasms; drug-related genes Glucuronidation GO:0006711;estrogen catabolic process;IDA|GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IDA|GO:0052695;cellular glucuronidation;IDA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0015020;glucuronosyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/UGT2B4 https://www.uniprot.org/uniprot/P06133 https://www.ncbi.nlm.nih.gov/omim/?term=600067 http://www.informatics.jax.org/searchtool/Search.do?query=UGT2B4&submit=Quick%0D%9938ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UGT2B4 rs11732968 0.323083 0 0.3428 1 0 0 exonic exonic exonic UGT2B4 UGT2B4 ENSG00000156096 nonsynonymous SNV nonsynonymous SNV unknown UGT2B4:NM_001297616:exon1:c.C19T:p.H7Y, UGT2B4:uc011cap.2:exon1:c.C19T:p.H7Y, UNKNOWN Het;G>A 1866;86|53 Hom;G>A 4424;0|104 N N - 4 71339723 71339723 G A snp splicing MUC7 ENSG00000171195 mucin 7, secreted chr4:71296209-71348714 This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014] Asthma; asthma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Meningeal Neoplasms|meningioma; lung function; Body Height; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Alcoholism; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; respiratory syncytial virus bronchiolitis Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC7 https://www.ncbi.nlm.nih.gov/omim/?term=158375 http://www.informatics.jax.org/searchtool/Search.do?query=MUC7&submit=Quick%0D%12872ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC7 rs2306949 0.208666 0.1961 0.1689 1 0 0 splicing splicing splicing MUC7 MUC7 ENSG00000171195 Na Na Na Na Na Na Het;G>A 1200;42|32 Hom;G>A 1956;0|44 N N - 4 71346701 71346701 C G snp nonsynonymous SNV C240G N80K polar,hydrophilic,neutral polar,hydrophilic,charged(+) MUC7 ENSG00000171195 mucin 7, secreted chr4:71296209-71348714 This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014] Asthma; asthma; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Meningeal Neoplasms|meningioma; lung function; Body Height; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Alcoholism; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; respiratory syncytial virus bronchiolitis Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC7 https://www.ncbi.nlm.nih.gov/omim/?term=158375 http://www.informatics.jax.org/searchtool/Search.do?query=MUC7&submit=Quick%0D%12872ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC7 rs6826961 0.310304 0.2577 0.2726 0.08 1 12 exonic exonic exonic MUC7 MUC7 ENSG00000171195 nonsynonymous SNV nonsynonymous SNV unknown MUC7:NM_152291:exon3:c.C240G:p.N80K,MUC7:NM_001145006:exon4:c.C240G:p.N80K,MUC7:NM_001145007:exon4:c.C240G:p.N80K, MUC7:uc011cau.2:exon4:c.C240G:p.N80K,MUC7:uc011cat.2:exon4:c.C240G:p.N80K,MUC7:uc003hfj.3:exon3:c.C240G:p.N80K, UNKNOWN Het;C>G 1882;112|90 Hom;C>G 4322;0|153 N N - 4 77201487 77201487 C T snp nonsynonymous SNV C803T T268M polar,hydrophilic,neutral hydrophobic,neutral FAM47E Fam47e ENSG00000189157 family with sequence similarity 47 member E chr4:77135193-77204933 Tobacco Use Disorder GO:0008150;biological_process;ND GO:0005737;cytoplasm;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/FAM47E http://www.informatics.jax.org/searchtool/Search.do?query=FAM47E&submit=Quick%0D%16193ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM47E rs1036788 0.655152 0.7830 0.7284 0.15 2 13 exonic exonic exonic FAM47E FAM47E ENSG00000189157 nonsynonymous SNV nonsynonymous SNV unknown FAM47E:NM_001242936:exon7:c.C803T:p.T268M,FAM47E:NM_001136570:exon7:c.C1097T:p.T366M, FAM47E:uc003hjx.3:exon7:c.C1097T:p.T366M,FAM47E:uc003hjv.3:exon7:c.C803T:p.T268M, UNKNOWN Het;C>T 675;34|34 Hom;C>T 2082;0|79 N N - 4 81884722 81884722 G A snp nonsynonymous SNV G658A V220I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C4orf22 1700007G11Rik ENSG00000197826 chromosome 4 open reading frame 22 chr4:81256874-81884910 Blood Pressure; Lipoproteins; Hematocrit; Tobacco Use Disorder; Diastolic blood pressure; Socioeconomic Factors http://www.genecards.org/index.php?path=/Search/keyword/C4orf22 http://www.informatics.jax.org/searchtool/Search.do?query=C4orf22&submit=Quick%0D%16727ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C4orf22 rs1052325 0.810503 0.7771 0.8365 0.08 1 13 exonic exonic exonic C4orf22 C4orf22 ENSG00000197826 nonsynonymous SNV nonsynonymous SNV unknown C4orf22:NM_152770:exon6:c.G658A:p.V220I,C4orf22:NM_001206997:exon7:c.G709A:p.V237I, C4orf22:uc010ijp.3:exon7:c.G709A:p.V237I,C4orf22:uc003hmf.3:exon6:c.G658A:p.V220I, UNKNOWN Het;G>A 189;50|17 Hom;G>A 1125;0|44 N N - 4 83582211 83582211 C G snp nonsynonymous SNV G589C E197Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral SCD5 ENSG00000145284 stearoyl-CoA desaturase 5 chr4:83550692-83720010 Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008] Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate; Metabolism; Tobacco Use Disorder; Myocardial Infarction Fatty acyl-CoA biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004768;stearoyl-CoA 9-desaturase activity;EXP|GO:0016491;oxidoreductase activity;IDA|GO:0016717;oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCD5 https://www.uniprot.org/uniprot/Q86SK9 https://www.ncbi.nlm.nih.gov/omim/?term=608370 http://www.informatics.jax.org/searchtool/Search.do?query=SCD5&submit=Quick%0D%8717ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCD5 rs3733227 0.608427 0.6068 0.6538 0.20 2 10 exonic exonic exonic SCD5 SCD5 ENSG00000145284 nonsynonymous SNV nonsynonymous SNV unknown SCD5:NM_024906:exon4:c.G589C:p.E197Q, SCD5:uc003hnb.4:exon4:c.G589C:p.E197Q, UNKNOWN Het;C>G 544;28|25 Hom;C>G 1782;0|60 N N - 4 84230619 84230619 T C snp nonsynonymous SNV A920G K307R polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) HPSE Hpse ENSG00000173083 heparanase chr4:84213614-84256306 Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Precursor Cell Lymphoblastic Leukemia-Lymphoma; Intestinal Neoplasms|Lymphatic Metastasis|Stomach Neoplasms; Hypertrophy, Left Ventricular; Hodgkin's disease leukemia, myeloid multiple myeloma myelodysplastic syndrome; myocardial infarction; stroke; Graft vs Host Disease|Recurrence; null Mice homozygous for a null allele exhibit precocious mammry gland development, increased angiogenesis and increased neovascularization. Neutrophil degranulation GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0006029;proteoglycan metabolic process;TAS|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IDA|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0030194;positive regulation of blood coagulation;IDA|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0033690;positive regulation of osteoblast proliferation;IDA|GO:0042060;wound healing;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051797;regulation of hair follicle development;IDA|GO:0051798;positive regulation of hair follicle development;IEA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0060055;angiogenesis involved in wound healing;IBA|GO:0061042;vascular wound healing;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IDA|GO:0005765;lysosomal membrane;IEA|GO:0016020;membrane;IEA|GO:0035580;specific granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045121;membrane raft;IEA GO:0004566;beta-glucuronidase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0045545;syndecan binding;IDA|GO:0046983;protein dimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HPSE https://www.ncbi.nlm.nih.gov/omim/?term=604724 http://www.informatics.jax.org/searchtool/Search.do?query=HPSE&submit=Quick%0D%13287ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE rs11099592 0.813299 0.7986 0.7844 0.23 3 13 exonic exonic exonic HPSE HPSE ENSG00000173083 nonsynonymous SNV nonsynonymous SNV unknown HPSE:NM_001166498:exon8:c.A920G:p.K307R,HPSE:NM_006665:exon8:c.A920G:p.K307R,HPSE:NM_001199830:exon6:c.A746G:p.K249R,HPSE:NM_001098540:exon7:c.A920G:p.K307R, HPSE:uc011ccs.2:exon6:c.A149G:p.K50R,HPSE:uc003hok.4:exon8:c.A920G:p.K307R,HPSE:uc003hoi.3:exon6:c.A746G:p.K249R,HPSE:uc003hoj.4:exon7:c.A920G:p.K307R,HPSE:uc011cct.2:exon8:c.A920G:p.K307R, UNKNOWN Het;T>C 1236;64|61 Hom;T>C 2649;0|101 N N - 4 89397091 89397091 A G snp nonsynonymous SNV A1492G M498V hydrophobic,neutral aliphatic,hydrophobic,neutral HERC5 ENSG00000138646 HECT and RLD domain containing E3 ubiquitin protein ligase 5 chr4:89378268-89427314 This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Jul 2008] Asthma Antigen processing: Ubiquitination & Proteasome degradation GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002376;immune system process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0032020;ISG15-protein conjugation;IDA|GO:0032480;negative regulation of type I interferon production;TAS|GO:0045087;innate immune response;IEA|GO:0050688;regulation of defense response to virus;IDA|GO:0051607;defense response to virus;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0042296;ISG15 transferase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HERC5 https://www.uniprot.org/uniprot/Q9UII4 https://www.ncbi.nlm.nih.gov/omim/?term=608242 http://www.informatics.jax.org/searchtool/Search.do?query=HERC5&submit=Quick%0D%7763ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC5 rs7699006 0.613019 0.4548 0.4403 0.08 1 13 exonic exonic exonic HERC5 HERC5 ENSG00000138646 nonsynonymous SNV nonsynonymous SNV unknown HERC5:NM_016323:exon12:c.A1492G:p.M498V, HERC5:uc011cdm.3:exon6:c.A406G:p.M136V,HERC5:uc003hrt.4:exon12:c.A1492G:p.M498V, UNKNOWN Het;A>G 1050;56|50 Hom;A>G 3151;0|115 N N - 4 89577214 89577214 A T snp nonsynonymous SNV A1097T K366M polar,hydrophilic,charged(+) hydrophobic,neutral HERC3 Herc3 ENSG00000138641 HECT and RLD domain containing E3 ubiquitin protein ligase 3 chr4:89442199-89629693 This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] Tobacco Use Disorder Mice homozygous for a null allele exhibit abnormal hair follicle bulge morphology. Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0031410;cytoplasmic vesicle;IEA GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HERC3 https://www.uniprot.org/uniprot/Q15034 https://www.ncbi.nlm.nih.gov/omim/?term=605200 http://www.informatics.jax.org/searchtool/Search.do?query=HERC3&submit=Quick%0D%7761ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HERC3 rs2972040 0.447085 0.3624 0.3311 0.27 3 11 intronic exonic exonic HERC3 HERC3 ENSG00000138641 Na nonsynonymous SNV unknown Na HERC3:uc003hrv.4:exon9:c.A1097T:p.K366M, UNKNOWN Het;A>T 365;19|18 Hom;A>T 778;0|29 N N - 5 101724448 101724448 G C snp nonsynonymous SNV C1961G T654R polar,hydrophilic,neutral polar,hydrophilic,charged(+) SLCO6A1 Slco6b1 ENSG00000205359 solute carrier organic anion transporter family member 6A1 chr5:101707486-101834720 Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal; Crohn Disease; Receptors, Tumor Necrosis Factor, Type II; Leukocyte Count; Schizophrenia; Hip; Tobacco Use Disorder; schizophrenia GO:0006810;transport;IEA|GO:0006811;ion transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLCO6A1 https://www.ncbi.nlm.nih.gov/omim/?term=613365 http://www.informatics.jax.org/searchtool/Search.do?query=SLCO6A1&submit=Quick%0D%17505ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLCO6A1 rs10055840 0.204073 0.2343 0.2575 0.08 1 13 exonic exonic exonic SLCO6A1 SLCO6A1 ENSG00000205359 nonsynonymous SNV nonsynonymous SNV unknown SLCO6A1:NM_173488:exon12:c.C1961G:p.T654R,SLCO6A1:NM_001289002:exon12:c.C1961G:p.T654R,SLCO6A1:NM_001289004:exon11:c.C1775G:p.T592R, SLCO6A1:uc003knp.3:exon12:c.C1961G:p.T654R,SLCO6A1:uc003kno.3:exon7:c.C1202G:p.T401R,SLCO6A1:uc003knq.3:exon11:c.C1775G:p.T592R,SLCO6A1:uc003knn.3:exon12:c.C1961G:p.T654R, UNKNOWN Het;G>C 2176;90|96 Hom;G>C 5290;0|192 N N - 5 10261966 10261966 G A snp nonsynonymous SNV G829A V277M aliphatic,hydrophobic,neutral hydrophobic,neutral CCT5 Cct5 ENSG00000150753 chaperonin containing TCP1 subunit 5 chr5:10250033-10266524 The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015] Myopia; Bulimia; Hereditary Sensory and Autonomic Neuropathies Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0006457;protein folding;TAS|GO:0006458;'de novo' protein folding;IBA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0009615;response to virus;IEP|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0050821;protein stabilization;IMP|GO:0061077;chaperone-mediated protein folding;IBA|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP GO:0002199;zona pellucida receptor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031681;G-protein beta-subunit binding;IPI|GO:0044183;protein binding involved in protein folding;IBA|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0048487;beta-tubulin binding;IPI|GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/CCT5 https://www.uniprot.org/uniprot/P48643 https://hpo.jax.org/app/browse/search?q=CCT5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610150 http://www.informatics.jax.org/searchtool/Search.do?query=CCT5&submit=Quick%0D%9346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT5 rs2244717 0.685903 0 0.8035 1 0 0 intronic exonic intronic CCT5 CCT5 ENSG00000150753 Na nonsynonymous SNV Na Na CCT5:uc011cmq.2:exon5:c.G829A:p.V277M, Na Het;G>A 294;2|12 Hom;G>A 688;0|22 N N - 5 123983915 123983915 G T snp nonsynonymous SNV C2162A T721N polar,hydrophilic,neutral polar,hydrophilic,neutral ZNF608 Zfp608 ENSG00000168916 zinc finger protein 608 chr5:123972608-124084500 Breath Tests; Heart Failure GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF608 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF608&submit=Quick%0D%12374ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF608 rs6862252 0.629992 0.5589 0.5625 0.08 1 13 exonic exonic exonic ZNF608 ZNF608 ENSG00000168916 nonsynonymous SNV nonsynonymous SNV unknown ZNF608:NM_020747:exon4:c.C2162A:p.T721N, ZNF608:uc003kts.1:exon5:c.C2162A:p.T721N,ZNF608:uc003ktt.1:exon5:c.C2162A:p.T721N,ZNF608:uc003ktq.1:exon4:c.C2162A:p.T721N, UNKNOWN Het;G>T 1670;53|73 Hom;G>T 3295;1|125 N N - 5 1244425 1244425 C T snp nonsynonymous SNV C1433T P478L hydrophobic,neutral aliphatic,hydrophobic,neutral SLC6A18 Slc6a18 ENSG00000164363 solute carrier family 6 member 18 chr5:1225470-1246304 The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010] bladder cancer; Hypertension; blood pressure hypertension Homozygous null mice are overtly normal but have increased blood pressure associated with impaired renal accumulation of glycine. Na+/Cl- dependent neurotransmitter transporters GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005215;transporter activity;IBA|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A18 https://www.ncbi.nlm.nih.gov/omim/?term=610300 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A18&submit=Quick%0D%11291ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A18 rs4073918 0.676118 0.7976 0.7171 0.15 2 13 exonic exonic exonic SLC6A18 SLC6A18 ENSG00000164363 nonsynonymous SNV nonsynonymous SNV unknown SLC6A18:NM_182632:exon10:c.C1433T:p.P478L, SLC6A18:uc003jby.2:exon10:c.C1433T:p.P478L, UNKNOWN Het;C>T 279;52|20 Hom;C>T 1498;0|59 N N - 5 127685135 127685135 C T snp nonsynonymous SNV G2893A V965I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FBN2 Fbn2 ENSG00000138829 fibrillin 2 chr5:127593601-127994878 The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Life Expectancy; Diabetes Mellitus; Alcoholism; Coronary Artery Disease; obesity (extreme); Macular Degeneration; Myocardial Infarction; congenital contractural arachnodactyly; bronchodilator response; Body Height; Intracranial Aneurysm; brain aneurysm; Obesity; Body Weights and Measures; Creatinine Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene. Molecules associated with elastic fibres GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030501;positive regulation of bone mineralization;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035583;sequestering of TGFbeta in extracellular matrix;IEA|GO:0043010;camera-type eye development;IEP|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0048048;embryonic eye morphogenesis;IEP|GO:0060346;bone trabecula formation;IEA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA GO:0001527;microfibril;IDA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030023;extracellular matrix constituent conferring elasticity;IC http://www.genecards.org/index.php?path=/Search/keyword/FBN2 https://www.uniprot.org/uniprot/P35556 https://hpo.jax.org/app/browse/search?q=FBN2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612570 http://www.informatics.jax.org/searchtool/Search.do?query=FBN2&submit=Quick%0D%7815ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN2 rs154001 0.73103 0.6622 0.7234 0.46 6 13 exonic exonic exonic FBN2 FBN2 ENSG00000138829 nonsynonymous SNV nonsynonymous SNV unknown FBN2:NM_001999:exon23:c.G2893A:p.V965I, FBN2:uc003kuv.2:exon22:c.G2794A:p.V932I,FBN2:uc003kuu.3:exon23:c.G2893A:p.V965I, UNKNOWN Het;C>T 1779;79|86 Hom;C>T 3580;0|129 N N - 5 130766662 130766662 T C snp nonsynonymous SNV A4379G Q1460R polar,hydrophilic,neutral polar,hydrophilic,charged(+) RAPGEF6 Rapgef6 ENSG00000158987 Rap guanine nucleotide exchange factor 6 chr5:130759614-130970929 Cholesterol; schizophrenia; Cholesterol, LDL Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production. GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007265;Ras protein signal transduction;NAS|GO:0030033;microvillus assembly;IGI|GO:0043087;regulation of GTPase activity;NAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0072659;protein localization to plasma membrane;IMP GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0030139;endocytic vesicle;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IDA|GO:0030742;GTP-dependent protein binding;IDA|GO:0070300;phosphatidic acid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RAPGEF6 https://www.ncbi.nlm.nih.gov/omim/?term=610499 http://www.informatics.jax.org/searchtool/Search.do?query=RAPGEF6&submit=Quick%0D%10275ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAPGEF6 rs1291602 0.899161 0.8820 0.8598 0.23 3 13 exonic exonic exonic RAPGEF6 RAPGEF6 ENSG00000158987,ENSG00000273217 nonsynonymous SNV nonsynonymous SNV unknown RAPGEF6:NM_001164386:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164387:exon28:c.A4394G:p.Q1465R,RAPGEF6:NM_001164388:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_016340:exon26:c.A4355G:p.Q1452R, RAPGEF6:uc003kvm.2:exon5:c.A1124G:p.Q375R,RAPGEF6:uc003kvo.2:exon28:c.A4394G:p.Q1465R,RAPGEF6:uc003kvn.2:exon26:c.A4355G:p.Q1452R,RAPGEF6:uc010jdj.2:exon27:c.A4379G:p.Q1460R,RAPGEF6:uc003kvp.2:exon27:c.A4505G:p.Q1502R,RAPGEF6:uc010jdi.2:exon27:c.A4379G:p.Q1460R, UNKNOWN Het;T>C 1746;88|81 Hom;T>C 4572;0|162 N N - 5 131396478 131396478 C T snp nonsynonymous SNV C79T P27S hydrophobic,neutral polar,hydrophilic,neutral IL3 ENSG00000164399 interleukin 3 chr5:131396222-131398897 The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq, Jul 2008] Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Leukemia, Lymphocytic, Chronic, B-Cell; lung cancer ; Eosinophilia; Celiac Disease; thyroid cancer; Multiple Sclerosis; asthma atopy; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Alzheimer's disease ; longevity; Graves Disease; bladder cancer; asthma; atopy; Lymphoma, Large B-Cell, Diffuse; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Crohn Disease; Hypertension|Pre-Eclampsia|Pregnancy Complications; respiratory syncytial virus bronchiolitis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; malaria, plasmodium falciparum; esophageal adenocarcinoma; Atopic asthma; rheumatoid arthritis; arthritis; chronic obstructive pulmonary disease; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Graves Disease|Graves' Disease; Hyperparathyroidism, Secondary Mice homozygous for disruptions in this gene show abnormal mast cell development. Contact hypersensitivity is reduced and resistance to parasitic invections is increased. Interleukin receptor SHC signaling GO:0000165;MAPK cascade;TAS|GO:0006955;immune response;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007399;nervous system development;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0035162;embryonic hemopoiesis;IDA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005622;intracellular;IEA GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005125;cytokine activity;IEA|GO:0005135;interleukin-3 receptor binding;TAS|GO:0005149;interleukin-1 receptor binding;IBA|GO:0008083;growth factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/IL3 https://www.ncbi.nlm.nih.gov/omim/?term=147740 http://www.informatics.jax.org/searchtool/Search.do?query=IL3&submit=Quick%0D%11296ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL3 rs40401 0.419529 0.3244 0.2916 0.08 1 13 exonic exonic exonic IL3 IL3 ENSG00000164399 nonsynonymous SNV nonsynonymous SNV unknown IL3:NM_000588:exon1:c.C79T:p.P27S, IL3:uc003kwe.1:exon1:c.C79T:p.P27S, UNKNOWN Het;C>T 863;40|40 Hom;C>T 2660;0|99 N N - 5 131411460 131411460 T C snp nonsynonymous SNV T350C I117T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral CSF2 Csf2 ENSG00000164400 colony stimulating factor 2 chr5:131409483-131411859 The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. [provided by RefSeq, Jul 2008] lung cancer ; chronic obstructive pulmonary disease; lung cancer; Alzheimer's disease ; respiratory syncytial virus bronchiolitis; asthma; atopy; dermatitis and eczema; Inflammation|Venous Thromboembolism; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Bone Mineral Density; Recurrence|Venous Thromboembolism; Pulmonary Disease, Chronic Obstructive; asthma atopy; Hypertension|Pre-Eclampsia|Pregnancy Complications; bladder cancer; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Erythema Nodosum|Sarcoidosis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Brain Ischemia|Inflammation|Stroke; null; Blindness|Trachoma; atherosclerosis; Arthritis, Rheumatoid; atopic dermatitis.; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Migraine Disorders; diabetes, type 2; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chlamydia Infections|Inflammation|Trachoma; Type 2 Diabetes| edema | rosiglitazone; Asthma; Rhinitis, Allergic, Seasonal; thyroid cancer; Chronic Obstructive Pulmonary Disease; Type 2 diabetes; dermatitis and eczema; Coronary Artery Disease|Inflammation; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Chronic renal failure|Kidney Failure, Chronic Homozygotes for targeted null mutations exhibit lung abnormalities with lymphocytic infiltration and accumulation of surfactant lipids. Litter sizes from homozygous breeding pairs are smaller at weaning due to perinatal mortality. Interleukin receptor SHC signaling GO:0000165;MAPK cascade;TAS|GO:0001821;histamine secretion;IEA|GO:0001892;embryonic placenta development;IEA|GO:0006955;immune response;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0010744;positive regulation of macrophage derived foam cell differentiation;IDA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030223;neutrophil differentiation;IEA|GO:0030224;monocyte differentiation;IEA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0034021;response to silicon dioxide;IEA|GO:0034405;response to fluid shear stress;IEA|GO:0042045;epithelial fluid transport;IEA|GO:0042116;macrophage activation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0043011;myeloid dendritic cell differentiation;IDA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045187;regulation of circadian sleep/wake cycle, sleep;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0045918;negative regulation of cytolysis;IDA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071803;positive regulation of podosome assembly;IDA|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IDA|GO:0097028;dendritic cell differentiation;IDA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005125;cytokine activity;IEA|GO:0005129;granulocyte macrophage colony-stimulating factor receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CSF2 https://www.ncbi.nlm.nih.gov/omim/?term=138960 http://www.informatics.jax.org/searchtool/Search.do?query=CSF2&submit=Quick%0D%11297ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSF2 rs25882 0.34984 0.2484 0.2644 0.08 1 13 exonic exonic exonic CSF2 CSF2 ENSG00000164400 nonsynonymous SNV nonsynonymous SNV unknown CSF2:NM_000758:exon4:c.T350C:p.I117T, CSF2:uc003kwf.4:exon4:c.T350C:p.I117T, UNKNOWN Het;T>C 1392;72|65 Hom;T>C 3408;0|120 N N - 5 131663062 131663062 T C snp nonsynonymous SNV T917C I306T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral SLC22A4 Slc22a4 ENSG00000197208 solute carrier family 22 member 4 chr5:131630136-131679899 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008] psoriasis; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease; ulcerative colitis; metformin pharmacokinetics; schizophrenia; gabapentin clearance; ulcerative colitis; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Fibrinogen; cholangitis, sclerosing; inflammatory bowel disease ; psoriasis; arthritis, psoriatic; arthritis, inflammatory; Crohn Disease|Crohn's disease|Growth Disorders; Crohn Disease|; diabetes, type 1; Tuberculosis; Acquired Immunodeficiency Syndrome|Disease Progression; Crohn's disease; Neuroblastoma; normal variation; Arthritis, Rheumatoid; rheumatoid arthritis; Crohn's disease; diabetes, type 1; celiac disease; Inflammatory Bowel Diseases; colorectal cancer; rheumatoid arthritis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chronic renal failure|Kidney Failure, Chronic; Metabolism; fibrinogen; null; Body Height; Crohn's disease; ulcerative colitis; inflammatory bowel disease; rheumatoid arthritis; Crohn's disease; Colitis, Ulcerative|Crohn Disease|; Crohn's disease ulcerative colitis; renal clearance of metformin; Crohn Disease|Food Hypersensitivity|; Crohn Disease; Crohn's disease inflammatory bowel disease ulcerative colitis; lupus erythematosus; perianal disease; Arthritis, Rheumatoid|; Arthritis, Rheumatoid|Diabetes Mellitus, Type 1; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit complete loss of ergothioneine with reduced absorption and increased excretion and increased susceptibility of small intestine to inflammation following ischemia and reperfusion. Organic cation transport GO:0006641;triglyceride metabolic process;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0007589;body fluid secretion;TAS|GO:0009437;carnitine metabolic process;IEA|GO:0015695;organic cation transport;TAS|GO:0015697;quaternary ammonium group transport;IDA|GO:0015711;organic anion transport;IEA|GO:0015879;carnitine transport;IDA|GO:0034220;ion transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:1902603;carnitine transmembrane transport;IEA GO:0005739;mitochondrion;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA GO:0000166;nucleotide binding;TAS|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008513;secondary active organic cation transmembrane transporter activity;TAS|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0015226;carnitine transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0015491;cation:cation antiporter activity;IDA|GO:0015651;quaternary ammonium group transmembrane transporter activity;IDA|GO:0022857;transmembrane transporter activity;IEA|GO:0030165;PDZ domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SLC22A4 https://www.ncbi.nlm.nih.gov/omim/?term=604190 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A4&submit=Quick%0D%16571ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A4 rs272893 0.554113 0.6572 0.5767 0.23 3 13 exonic exonic exonic SLC22A4 SLC22A4 ENSG00000197208 nonsynonymous SNV nonsynonymous SNV unknown SLC22A4:NM_003059:exon5:c.T917C:p.I306T, SLC22A4:uc003kwq.3:exon5:c.T917C:p.I306T, UNKNOWN Het;T>C 359;12|18 Hom;T>C 1053;0|34 N N - 5 138730037 138730037 T C snp nonsynonymous SNV A734G Q245R polar,hydrophilic,neutral polar,hydrophilic,charged(+) PROB1 Prob1 ENSG00000228672 proline rich basic protein 1 chr5:138727635-138730885 Chromosome Deletion|Myelodysplastic Syndromes http://www.genecards.org/index.php?path=/Search/keyword/PROB1 http://www.informatics.jax.org/searchtool/Search.do?query=PROB1&submit=Quick%0D%18852ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PROB1 rs11748963 0.354034 0 0.3089 0.64 7 11 exonic exonic exonic PROB1 PROB1 ENSG00000228672 nonsynonymous SNV nonsynonymous SNV unknown PROB1:NM_001161546:exon1:c.A734G:p.Q245R, PROB1:uc011czc.1:exon1:c.A734G:p.Q245R, UNKNOWN Het;T>C 532;31|24 Hom;T>C 736;0|27 N N - 5 140517174 140517174 T C snp nonsynonymous SNV T2158C S720P polar,hydrophilic,neutral hydrophobic,neutral PCDHB5 Pcdhb10 ENSG00000113209 protocadherin beta 5 chr5:140514800-140517703 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007416;synapse assembly;TAS|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;NAS GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCDHB5 https://www.uniprot.org/uniprot/Q9Y5E4 https://www.ncbi.nlm.nih.gov/omim/?term=606331 http://www.informatics.jax.org/searchtool/Search.do?query=PCDHB5&submit=Quick%0D%4329ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDHB5 rs400562 0.85024 0.8105 0.8362 1 0 0 exonic exonic exonic PCDHB5 PCDHB5 ENSG00000113209 nonsynonymous SNV nonsynonymous SNV unknown PCDHB5:NM_015669:exon1:c.T2158C:p.S720P, PCDHB5:uc003liq.3:exon1:c.T2158C:p.S720P, UNKNOWN Het;T>C 9032;371|400 Hom;T>C 19292;4|685 N N - 5 140720516 140720516 C G snp nonsynonymous SNV C1978G L660V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral PCDHGA2 Pcdhga2 ENSG00000081853 protocadherin gamma subfamily A, 2 chr5:140718539-140892546 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] Tobacco Use Disorder GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007267;cell-cell signaling;IBA|GO:0007399;nervous system development;IBA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCDHGA2 https://www.uniprot.org/uniprot/Q9Y5H1 https://www.ncbi.nlm.nih.gov/omim/?term=606289 http://www.informatics.jax.org/searchtool/Search.do?query=PCDHGA2&submit=Quick%0D%1783ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDHGA2 rs35592458 0.385982 0.3530 0.4697 0.08 1 12 exonic exonic exonic PCDHGA2 PCDHGA2 ENSG00000081853 nonsynonymous SNV nonsynonymous SNV unknown PCDHGA2:NM_032009:exon1:c.C1978G:p.L660V,PCDHGA2:NM_018915:exon1:c.C1978G:p.L660V, PCDHGA2:uc003ljk.2:exon1:c.C1978G:p.L660V,PCDHGA2:uc011dao.2:exon1:c.C1978G:p.L660V, UNKNOWN Het;C>G 206;7|11 Hom;C>G 469;0|17 N N - 5 140787962 140787962 A G snp nonsynonymous SNV A193G K65E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) PCDHGB6 Pcdhgb6 ENSG00000253305 protocadherin gamma subfamily B, 6 chr5:140787770-140892546 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007267;cell-cell signaling;IBA|GO:0007399;nervous system development;IBA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCDHGB6 https://www.ncbi.nlm.nih.gov/omim/?term=606303 http://www.informatics.jax.org/searchtool/Search.do?query=PCDHGB6&submit=Quick%0D%20019ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCDHGB6 rs200317374 0.0177716 0.0039 0.0132 0.50 6 12 exonic exonic exonic PCDHGB6 PCDHGB6 ENSG00000253305 nonsynonymous SNV nonsynonymous SNV unknown PCDHGB6:NM_032100:exon1:c.A193G:p.K65E,PCDHGB6:NM_018926:exon1:c.A193G:p.K65E, PCDHGB6:uc003lkj.2:exon1:c.A193G:p.K65E,PCDHGB6:uc003lki.1:exon1:c.A193G:p.K65E, UNKNOWN Het;A>G 3198;144|150 Hom;A>G 6633;3|246 N N - 5 141019569 141019569 G C snp nonsynonymous SNV G586C G196R aliphatic,neutral polar,hydrophilic,charged(+) RELL2 Rell2 ENSG00000164620 RELT like 2 chr5:141016517-141020644 GO:0010811;positive regulation of cell-substrate adhesion;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RELL2 https://www.ncbi.nlm.nih.gov/omim/?term=611213 http://www.informatics.jax.org/searchtool/Search.do?query=RELL2&submit=Quick%0D%11347ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RELL2 rs17855844 0.183906 0.1752 0.2037 0.31 4 13 exonic exonic exonic RELL2 RELL2 ENSG00000164620 nonsynonymous SNV nonsynonymous SNV unknown RELL2:NM_001130029:exon6:c.G586C:p.G196R,RELL2:NM_173828:exon5:c.G586C:p.G196R, RELL2:uc003llh.3:exon5:c.G586C:p.G196R,RELL2:uc003lli.3:exon6:c.G586C:p.G196R, UNKNOWN Het;G>C 1559;66|67 Hom;G>C 3250;0|113 N N - 5 141019830 141019830 C G snp nonsynonymous SNV C847G Q283E polar,hydrophilic,neutral polar,hydrophilic,charged(-) RELL2 Rell2 ENSG00000164620 RELT like 2 chr5:141016517-141020644 GO:0010811;positive regulation of cell-substrate adhesion;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RELL2 https://www.ncbi.nlm.nih.gov/omim/?term=611213 http://www.informatics.jax.org/searchtool/Search.do?query=RELL2&submit=Quick%0D%11347ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RELL2 rs11742646 0 0.1773 0.2028 0.38 5 13 exonic exonic exonic RELL2 RELL2 ENSG00000164620 nonsynonymous SNV nonsynonymous SNV unknown RELL2:NM_001130029:exon6:c.C847G:p.Q283E,RELL2:NM_173828:exon5:c.C847G:p.Q283E, RELL2:uc003llh.3:exon5:c.C847G:p.Q283E,RELL2:uc003lli.3:exon6:c.C847G:p.Q283E, UNKNOWN Het;C>G 1156;66|57 Hom;C>G 4156;3|151 N N - 5 148578636 148578636 T C snp nonsynonymous SNV T310C C104R polar,hydrophobic,neutral polar,hydrophilic,charged(+) ABLIM3 Ablim3 ENSG00000173210 actin binding LIM protein family member 3 chr5:148521046-148640105 This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016] Socioeconomic Factors; Echocardiography DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030032;lamellipodium assembly;IMP|GO:0030036;actin cytoskeleton organization;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0060271;cilium assembly;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0030027;lamellipodium;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM3 https://www.ncbi.nlm.nih.gov/omim/?term=611305 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM3&submit=Quick%0D%13311ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM3 rs13362048 0.527556 0 0.6278 1 0 0 exonic exonic exonic ABLIM3 ABLIM3 ENSG00000173210 nonsynonymous SNV nonsynonymous SNV unknown ABLIM3:NM_001301027:exon4:c.T310C:p.C104R, ABLIM3:uc003lqa.1:exon4:c.T310C:p.C104R, UNKNOWN Het;T>C 872;69|43 Hom;T>C 2717;0|104 N N - 5 149008521 149008521 A G snp nonsynonymous SNV A1810G M604V hydrophobic,neutral aliphatic,hydrophobic,neutral ARHGEF37 Arhgef37 ENSG00000183111 Rho guanine nucleotide exchange factor 37 chr5:148931510-149014531 G alpha (12/13) signalling events GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005737;cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF37 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF37&submit=Quick%0D%14923ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF37 rs1135093 0.69369 0.7105 0.6952 0.15 2 13 exonic exonic exonic ARHGEF37 ARHGEF37 ENSG00000183111 nonsynonymous SNV nonsynonymous SNV unknown ARHGEF37:NM_001001669:exon12:c.A1810G:p.M604V, ARHGEF37:uc003lra.1:exon12:c.A1810G:p.M604V, UNKNOWN Het;A>G 581;41|28 Hom;A>G 1678;0|62 N N - 5 149374879 149374880 CT C indel frameshift substitution 1032_1033G TIGD6 ENSG00000164296 tigger transposable element derived 6 chr5:149372681-149380730 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009] GO:0005634;nucleus;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIGD6 http://www.informatics.jax.org/searchtool/Search.do?query=TIGD6&submit=Quick%0D%11266ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIGD6 rs3832324 0.51877 0.5683 0.6030 1 0 0 exonic exonic exonic TIGD6 TIGD6 ENSG00000164296 frameshift substitution frameshift substitution unknown TIGD6:NM_001243253:exon2:c.1032_1033G,TIGD6:NM_030953:exon2:c.1032_1033G, TIGD6:uc003lrj.3:exon2:c.1032_1033G,TIGD6:uc021yft.1:exon1:c.1032_1033G,TIGD6:uc003lri.3:exon2:c.1032_1033G, UNKNOWN Het;-T 3317;116|107 Hom;-T 6737;0|181 N N - 5 149374932 149374932 T C snp nonsynonymous SNV A980G Q327R polar,hydrophilic,neutral polar,hydrophilic,charged(+) TIGD6 ENSG00000164296 tigger transposable element derived 6 chr5:149372681-149380730 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009] GO:0005634;nucleus;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIGD6 http://www.informatics.jax.org/searchtool/Search.do?query=TIGD6&submit=Quick%0D%11266ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIGD6 rs10875553 0.667532 0.7104 0.7538 0.15 2 13 exonic exonic exonic TIGD6 TIGD6 ENSG00000164296 nonsynonymous SNV nonsynonymous SNV unknown TIGD6:NM_001243253:exon2:c.A980G:p.Q327R,TIGD6:NM_030953:exon2:c.A980G:p.Q327R, TIGD6:uc003lrj.3:exon2:c.A980G:p.Q327R,TIGD6:uc021yft.1:exon1:c.A980G:p.Q327R,TIGD6:uc003lri.3:exon2:c.A980G:p.Q327R, UNKNOWN Het;T>C 2150;90|94 Hom;T>C 4127;0|145 N N - 5 149406271 149406271 C T snp nonsynonymous SNV C1463T A488V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HMGXB3 Hmgxb3 ENSG00000113716 HMG-box containing 3 chr5:149379884-149432386 This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011] HIV-1; Body Height GO:0008150;biological_process;ND|GO:0016310;phosphorylation;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0016301;kinase activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/HMGXB3 https://www.uniprot.org/uniprot/Q12766 http://www.informatics.jax.org/searchtool/Search.do?query=HMGXB3&submit=Quick%0D%4396ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGXB3 rs6579767 0.801118 0.8491 0.7800 0.17 2 12 exonic exonic exonic HMGXB3 HMGXB3 ENSG00000113716 nonsynonymous SNV nonsynonymous SNV unknown HMGXB3:NM_014983:exon8:c.C1463T:p.A488V, HMGXB3:uc003lrk.4:exon8:c.C1463T:p.A488V, UNKNOWN Het;C>T 514;16|25 Hom;C>T 1416;0|54 N N - 5 162902516 162902516 T C snp nonsynonymous SNV T845C V282A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HMMR Hmmr ENSG00000072571 hyaluronan mediated motility receptor chr5:162887209-162918947 The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008] Chronic renal failure|Kidney Failure, Chronic; breast cancer ; Insulin Mice homozygous for mutations of this gene exhibit impaired fertility and are less susceptible to the formation of aggressive fibromatosis. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0030214;hyaluronan catabolic process;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0005540;hyaluronic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HMMR https://www.uniprot.org/uniprot/O75330 https://www.ncbi.nlm.nih.gov/omim/?term=600936 http://www.informatics.jax.org/searchtool/Search.do?query=HMMR&submit=Quick%0D%1439ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMMR rs299290 0.3127 0.2636 0.2839 0.08 1 13 exonic exonic exonic HMMR HMMR ENSG00000072571 nonsynonymous SNV nonsynonymous SNV unknown HMMR:NM_001142557:exon8:c.T845C:p.V282A,HMMR:NM_012485:exon10:c.T1058C:p.V353A,HMMR:NM_001142556:exon11:c.T1106C:p.V369A,HMMR:NM_012484:exon11:c.T1103C:p.V368A, HMMR:uc003lzg.3:exon10:c.T1058C:p.V353A,HMMR:uc011dem.2:exon8:c.T845C:p.V282A,HMMR:uc003lzf.3:exon11:c.T1103C:p.V368A,HMMR:uc003lzh.3:exon11:c.T1106C:p.V369A, UNKNOWN Het;T>C 785;44|35 Hom;T>C 2522;0|82 N N - 5 163266 163266 C G snp nonsynonymous SNV C2011G R671G polar,hydrophilic,charged(+) aliphatic,neutral PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs3810867 0.383387 0.4082 0.3888 0.08 1 12 exonic exonic exonic PLEKHG4B PLEKHG4B ENSG00000153404 nonsynonymous SNV nonsynonymous SNV unknown PLEKHG4B:NM_052909:exon11:c.C2011G:p.R671G, PLEKHG4B:uc003jak.2:exon11:c.C2011G:p.R671G, UNKNOWN Het;C>G 744;55|36 Hom;C>G 3329;0|76 N N - 5 168212951 168212951 A G snp nonsynonymous SNV T1112C V371A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SLIT3 Slit3 ENSG00000184347 slit guidance ligand 3 chr5:168088745-168728133 The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Osteoporosis; Metabolism; Obesity; Body Height; Body Mass Index; Tobacco Use Disorder; Cholesterol; Cervical Neoplasm|Uterine Cervical Neoplasms; pravastatin kinetics; Parkinson's disease ; Waist Circumference; Celiac Disease|; Magnesium Mice homozygous for a gene trap allele show congenital diaphragmatic hernia (CDH), variable renal defects and enlarged heart right ventricles. Mice homozygous for either of two reporter alleles show diaphragm dysgenesis and die prematurely; those with end-stage CDH show dyspnea and lung congestion. Netrin-1 signaling GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;IDA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0032870;cellular response to hormone stimulus;IEP|GO:0035385;Roundabout signaling pathway;IMP|GO:0048846;axon extension involved in axon guidance;IDA|GO:0050919;negative chemotaxis;IDA|GO:0051414;response to cortisol;IEP|GO:0061364;apoptotic process involved in luteolysis;IEP|GO:0070100;negative regulation of chemokine-mediated signaling pathway;IMP GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005739;mitochondrion;NAS GO:0005509;calcium ion binding;NAS|GO:0048495;Roundabout binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SLIT3 https://www.ncbi.nlm.nih.gov/omim/?term=603745 http://www.informatics.jax.org/searchtool/Search.do?query=SLIT3&submit=Quick%0D%15186ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLIT3 rs891921 0.930312 0.9285 0.9062 0.23 3 13 exonic exonic exonic SLIT3 SLIT3 ENSG00000184347 nonsynonymous SNV nonsynonymous SNV unknown SLIT3:NM_003062:exon12:c.T1112C:p.V371A,SLIT3:NM_001271946:exon12:c.T1112C:p.V371A, SLIT3:uc010jji.2:exon12:c.T1112C:p.V371A,SLIT3:uc003mab.4:exon12:c.T1112C:p.V371A,SLIT3:uc010jjg.4:exon12:c.T1112C:p.V371A,SLIT3:uc003mac.1:exon7:c.T503C:p.V168A, UNKNOWN Het;A>G 819;69|43 Hom;A>G 2113;0|77 N N - 5 170239112 170239112 C A snp nonsynonymous SNV C1173A F391L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral GABRP Gabrp ENSG00000094755 gamma-aminobutyric acid type A receptor pi subunit chr5:170190354-170241051 The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] Bipolar Disorder; suicide; bipolar schizoaffective disorder; several psychiatric disorders; schizophrenia; kidney aging; Heart Failure; Bulimia Homozygous mutation of this gene does not appear to result in a phenotype. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007165;signal transduction;IEA|GO:0034220;ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0034707;chloride channel complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:1902711;GABA-A receptor complex;IBA GO:0004890;GABA-A receptor activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0005254;chloride channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GABRP https://www.uniprot.org/uniprot/O00591 https://www.ncbi.nlm.nih.gov/omim/?term=602729 http://www.informatics.jax.org/searchtool/Search.do?query=GABRP&submit=Quick%0D%2222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GABRP rs1063310 0.223842 0.2643 0.2220 0.15 2 13 exonic exonic exonic GABRP GABRP ENSG00000094755 nonsynonymous SNV nonsynonymous SNV unknown GABRP:NM_014211:exon10:c.C1173A:p.F391L, GABRP:uc003mau.3:exon10:c.C1173A:p.F391L, UNKNOWN Het;C>A 1218;110|64 Hom;C>A 4167;2|154 N N - 5 174106 174106 G A snp nonsynonymous SNV G3227A R1076Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs4956987 0.338858 0.4200 0.4992 0.42 5 12 exonic exonic exonic PLEKHG4B PLEKHG4B ENSG00000153404 nonsynonymous SNV nonsynonymous SNV unknown PLEKHG4B:NM_052909:exon16:c.G3227A:p.R1076Q, PLEKHG4B:uc003jak.2:exon16:c.G3227A:p.R1076Q, UNKNOWN Het;G>A 1381;52|67 Hom;G>A 2892;0|110 N N - 5 181730 181730 C G snp nonsynonymous SNV C3436G R1146G polar,hydrophilic,charged(+) aliphatic,neutral PLEKHG4B ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B chr5:140373-190085 GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PLEKHG4B https://www.uniprot.org/uniprot/Q96PX9 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHG4B&submit=Quick%0D%9662ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHG4B rs12519352 0.33147 0.4164 0.4659 0.50 6 12 exonic exonic exonic PLEKHG4B PLEKHG4B ENSG00000153404 nonsynonymous SNV nonsynonymous SNV unknown PLEKHG4B:NM_052909:exon17:c.C3436G:p.R1146G, PLEKHG4B:uc003jak.2:exon17:c.C3436G:p.R1146G, UNKNOWN Het;C>G 1461;92|77 Hom;C>G 3190;0|120 N N - 5 32400266 32400266 A G snp nonsynonymous SNV T1559C I520T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral ZFR Zfr ENSG00000056097 zinc finger RNA binding protein chr5:32354456-32444867 This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016] Autosomal recessive spastic paraplegia type 71 Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9. GO:0007275;multicellular organism development;IEA GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFR https://www.uniprot.org/uniprot/Q96KR1 https://hpo.jax.org/app/browse/search?q=ZFR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615635 http://www.informatics.jax.org/searchtool/Search.do?query=ZFR&submit=Quick%0D%1006ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFR rs1051489 0.232827 0.2653 0.3087 0.31 4 13 exonic exonic exonic ZFR ZFR ENSG00000056097 nonsynonymous SNV nonsynonymous SNV unknown ZFR:NM_016107:exon9:c.T1559C:p.I520T, ZFR:uc003jhr.1:exon9:c.T1559C:p.I520T, UNKNOWN Het;A>G 285;30|15 Hom;A>G 2191;0|77 N N - 5 32403346 32403346 C T snp nonsynonymous SNV G1381A V461I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZFR Zfr ENSG00000056097 zinc finger RNA binding protein chr5:32354456-32444867 This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016] Autosomal recessive spastic paraplegia type 71 Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9. GO:0007275;multicellular organism development;IEA GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFR https://www.uniprot.org/uniprot/Q96KR1 https://hpo.jax.org/app/browse/search?q=ZFR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615635 http://www.informatics.jax.org/searchtool/Search.do?query=ZFR&submit=Quick%0D%1006ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFR rs4867440 0.91853 0.9599 0.9362 0.08 1 13 exonic exonic exonic ZFR ZFR ENSG00000056097 nonsynonymous SNV nonsynonymous SNV unknown ZFR:NM_016107:exon8:c.G1381A:p.V461I, ZFR:uc003jhr.1:exon8:c.G1381A:p.V461I, UNKNOWN Het;C>T 1728;126|88 Hom;C>T 4213;0|154 N N - 5 33535060 33535060 G A snp nonsynonymous SNV C4484T T1495I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ADAMTS12 Adamts12 ENSG00000281690 ADAM metallopeptidase with thrombospondin type 1 motif 12 chr5:33523640-33892297 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Cholesterol; Mortality; Cholesterol, LDL; Heart Failure Mice homozygous for a knock-out allele exhibit increased tumor vascularization, tumor invasion, and angiogenesis. http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS12 https://www.ncbi.nlm.nih.gov/omim/?term=606184 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS12&submit=Quick%0D%22327ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS12 rs25754 0.599641 0.4612 0.4902 0.31 4 13 exonic exonic exonic ADAMTS12 ADAMTS12 ENSG00000151388 nonsynonymous SNV nonsynonymous SNV unknown ADAMTS12:NM_030955:exon23:c.C4484T:p.T1495I, ADAMTS12:uc010iuq.1:exon21:c.C4229T:p.T1410I,ADAMTS12:uc003jia.1:exon23:c.C4484T:p.T1495I, UNKNOWN Het;G>A 320;46|21 Hom;G>A 1514;0|60 N N - 5 35876274 35876274 A G snp nonsynonymous SNV A1066G I356V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral IL7R Il7r ENSG00000168685 interleukin 7 receptor chr5:35852797-35879705 The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015] chronic obstructive pulmonary disease; allergy; Arthritis, Juvenile Rheumatoid|Chronic Childhood Arthritis; bladder cancer; Helicobacter Infections|Stomach Neoplasms; Tobacco Use Disorder; Lung Diseases|Lymphomatoid Granulomatosis|Sarcoidosis|Syndrome; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; longevity; Lymphopenia|SCID|Severe Combined Immunodeficiency; diabetes, type 1 ; multiple sclerosis; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|; Asthma|Bronchial Hyperreactivity; type 1 diabetes; lung cancer ; Multiple Sclerosis; lung cancer; Celiac Disease|; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; null; Dermatitis, Atopic|Eczema allergic|Kaposi Varicelliform Eruption; HIV Infections|[X]Human immunodeficiency virus disease; Lymphoma, Large B-Cell, Diffuse; Hyperparathyroidism, Secondary; stem cell transplantation Homozygous null mutations cause arrested T and B cell differentiation and severely reduced thymus and spleen cellularity. Mice homozygous for a knock-in allele show partial rescue of T cell numbers during late thymus development, and impaired CD8 T cell memory and CD4 T cell primary responses. Interleukin-7 signaling GO:0000018;regulation of DNA recombination;TAS|GO:0000902;cell morphogenesis;IEA|GO:0001915;negative regulation of T cell mediated cytotoxicity;IEA|GO:0002377;immunoglobulin production;IEA|GO:0006955;immune response;TAS|GO:0007165;signal transduction;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0008361;regulation of cell size;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016049;cell growth;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0030217;T cell differentiation;IEA|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0038111;interleukin-7-mediated signaling pathway;IEA|GO:0042100;B cell proliferation;IEA|GO:0048535;lymph node development;IEA|GO:0048872;homeostasis of number of cells;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003823;antigen binding;TAS|GO:0004896;cytokine receptor activity;IEA|GO:0004917;interleukin-7 receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IL7R https://hpo.jax.org/app/browse/search?q=IL7R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=146661 http://www.informatics.jax.org/searchtool/Search.do?query=IL7R&submit=Quick%0D%12324ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL7R rs3194051 0.220847 0.2932 0.2445 0.15 2 13 exonic exonic exonic IL7R IL7R ENSG00000168685 nonsynonymous SNV nonsynonymous SNV unknown IL7R:NM_002185:exon8:c.A1066G:p.I356V, IL7R:uc003jjs.4:exon8:c.A1066G:p.I356V, UNKNOWN Het;A>G 1419;69|62 Hom;A>G 3458;0|126 N N - 5 41008780 41008780 A G snp nonsynonymous SNV T3536C L1179P aliphatic,hydrophobic,neutral hydrophobic,neutral MROH2B Mroh2b ENSG00000171495 maestro heat like repeat family member 2B chr5:40998119-41071444 Multiple Sclerosis; Hip; Tobacco Use Disorder GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA http://www.genecards.org/index.php?path=/Search/keyword/MROH2B http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B rs2271704 0.78155 0.8385 0.8028 0.15 2 13 exonic exonic exonic MROH2B MROH2B ENSG00000171495 nonsynonymous SNV nonsynonymous SNV unknown MROH2B:NM_173489:exon33:c.T3536C:p.L1179P, MROH2B:uc003jmj.4:exon33:c.T3536C:p.L1179P,MROH2B:uc003jmi.4:exon23:c.T2201C:p.L734P, UNKNOWN Het;A>G 1217;53|56 Hom;A>G 2812;2|103 N N - 5 41048533 41048533 C T snp nonsynonymous SNV G1577A R526H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) MROH2B Mroh2b ENSG00000171495 maestro heat like repeat family member 2B chr5:40998119-41071444 Multiple Sclerosis; Hip; Tobacco Use Disorder GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA http://www.genecards.org/index.php?path=/Search/keyword/MROH2B http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B rs13173930 0.235024 0.3215 0.3300 0.31 4 13 exonic exonic exonic MROH2B MROH2B ENSG00000171495 nonsynonymous SNV nonsynonymous SNV unknown MROH2B:NM_173489:exon16:c.G1577A:p.R526H, MROH2B:uc003jmj.4:exon16:c.G1577A:p.R526H,MROH2B:uc003jmi.4:exon6:c.G242A:p.R81H, UNKNOWN Het;C>T 916;54|43 Hom;C>T 2809;0|103 N N - 5 41069852 41069852 T C snp nonsynonymous SNV A31G M11V hydrophobic,neutral aliphatic,hydrophobic,neutral MROH2B Mroh2b ENSG00000171495 maestro heat like repeat family member 2B chr5:40998119-41071444 Multiple Sclerosis; Hip; Tobacco Use Disorder GO:0007283;spermatogenesis;IEA|GO:0010737;protein kinase A signaling;IEA|GO:0030154;cell differentiation;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005737;cytoplasm;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097225;sperm midpiece;IEA http://www.genecards.org/index.php?path=/Search/keyword/MROH2B http://www.informatics.jax.org/searchtool/Search.do?query=MROH2B&submit=Quick%0D%12945ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH2B rs13174484 0.236422 0.3343 0.3686 0.08 1 13 exonic exonic exonic MROH2B MROH2B ENSG00000171495 nonsynonymous SNV nonsynonymous SNV unknown MROH2B:NM_173489:exon2:c.A31G:p.M11V, MROH2B:uc003jmj.4:exon2:c.A31G:p.M11V,MROH2B:uc021xxt.1:exon2:c.A31G:p.M11V, UNKNOWN Het;T>C 943;81|51 Hom;T>C 2508;0|93 N N - 5 422955 422955 C G snp nonsynonymous SNV C565G P189A hydrophobic,neutral aliphatic,hydrophobic,neutral AHRR Ahrr ENSG00000063438 aryl-hydrocarbon receptor repressor chr5:304291-438406 The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] null; azoospermia infertility, male oligospermia; Endometriosis|Uterine Diseases; bladder cancer; endometriosis; micropenis; lung cancer; lung cancer ; esophageal adenocarcinoma; chronic obstructive pulmonary disease; Azoospermia|Oligospermia Mice homozygous for a null allele exhibit decreased susceptibility to chemically induced tumors. Aryl hydrocarbon receptor signalling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0009410;response to xenobiotic stimulus;IBA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0001191;transcriptional repressor activity, RNA polymerase II transcription factor binding;IBA|GO:0003677;DNA binding;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AHRR https://www.uniprot.org/uniprot/A9YTQ3 https://www.ncbi.nlm.nih.gov/omim/?term=606517 http://www.informatics.jax.org/searchtool/Search.do?query=AHRR&submit=Quick%0D%1107ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHRR rs2292596 0 0.3025 0.3802 0.54 7 13 exonic exonic exonic AHRR AHRR ENSG00000063438 nonsynonymous SNV nonsynonymous SNV unknown AHRR:NM_001242412:exon6:c.C565G:p.P189A,AHRR:NM_020731:exon6:c.C565G:p.P189A, AHRR:uc010isy.3:exon4:c.C103G:p.P35A,AHRR:uc003jaw.3:exon6:c.C565G:p.P189A,AHRR:uc010isz.3:exon6:c.C553G:p.P185A,AHRR:uc003jay.3:exon2:c.C133G:p.P45A,AHRR:uc003jav.3:exon6:c.C565G:p.P189A, UNKNOWN Het;C>G 983;89|55 Hom;C>G 2662;2|101 N N - 5 475104 475104 A G snp nonsynonymous SNV T2395C C799R polar,hydrophobic,neutral polar,hydrophilic,charged(+) SLC9A3 Slc9a3 ENSG00000281861 solute carrier family 9 member A3 chr5:473425-524447 The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016] Hyperparathyroidism, Secondary; null; Colitis, Ulcerative; febrile seizures; hypertension; Type 2 Diabetes| edema | rosiglitazone; Pre-Eclampsia Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile. GO:0006812;cation transport;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA GO:0016021;integral component of membrane;IEA GO:0015299;solute:proton antiporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC9A3 https://hpo.jax.org/app/browse/search?q=SLC9A3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=182307 http://www.informatics.jax.org/searchtool/Search.do?query=SLC9A3&submit=Quick%0D%22342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC9A3 rs2247114 0 0.8713 0.8253 0.15 2 13 exonic exonic exonic SLC9A3 SLC9A3 ENSG00000066230 nonsynonymous SNV nonsynonymous SNV unknown SLC9A3:NM_004174:exon16:c.T2395C:p.C799R,SLC9A3:NM_001284351:exon16:c.T2368C:p.C790R, SLC9A3:uc003jbe.2:exon16:c.T2395C:p.C799R,SLC9A3:uc011clx.1:exon16:c.T2368C:p.C790R, UNKNOWN Het;A>G 1093;53|56 Hom;A>G 4128;0|150 N N - 5 77425028 77425028 A T snp nonsynonymous SNV T1607A V536E aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) AP3B1 Ap3b1 ENSG00000132842 adaptor related protein complex 3 beta 1 subunit chr5:77296349-77590579 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012] atherosclerosis, coronary lipoprotein; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Carotid Artery Diseases; schizophrenia; Melanoma|Skin Neoplasms Homozygous mutants exhibit hypopigmentation, elevated kidney levels of lysosomal enzymes, platelet storage pool deficiency, reduced ipsilateral projections from the retina to brain, reduced sensitivity of dark-adapted retina and shortened life span. Signaling by BRAF and RAF fusions GO:0006622;protein targeting to lysosome;IEA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;TAS|GO:0007596;blood coagulation;IEA|GO:0008089;anterograde axonal transport;ISS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019882;antigen processing and presentation;IEA|GO:0032438;melanosome organization;IMP|GO:0048007;antigen processing and presentation, exogenous lipid antigen via MHC class Ib;IEA|GO:0048490;anterograde synaptic vesicle transport;ISS|GO:0051138;positive regulation of NK T cell differentiation;IEA GO:0005765;lysosomal membrane;IDA|GO:0005794;Golgi apparatus;TAS|GO:0016020;membrane;IEA|GO:0030117;membrane coat;IEA|GO:0030123;AP-3 adaptor complex;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:1904115;axon cytoplasm;IEA GO:0019903;protein phosphatase binding;IPI|GO:0030742;GTP-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AP3B1 https://www.uniprot.org/uniprot/O00203 https://hpo.jax.org/app/browse/search?q=AP3B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603401 http://www.informatics.jax.org/searchtool/Search.do?query=AP3B1&submit=Quick%0D%6752ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP3B1 rs6453373 0 0.9328 0.8628 0.23 3 13 exonic exonic exonic AP3B1 AP3B1 ENSG00000132842 nonsynonymous SNV nonsynonymous SNV unknown AP3B1:NM_001271769:exon16:c.T1607A:p.V536E,AP3B1:NM_003664:exon16:c.T1754A:p.V585E, AP3B1:uc031skl.1:exon16:c.T1607A:p.V536E,AP3B1:uc003kfj.4:exon16:c.T1754A:p.V585E, UNKNOWN Het;A>T 1179;81|58 Hom;A>T 2521;0|92 N N - 5 7835555 7835555 C G snp nonsynonymous SNV G204C Q68H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) C5orf49 1700001L19Rik ENSG00000215217 chromosome 5 open reading frame 49 chr5:7830491-7851603 http://www.genecards.org/index.php?path=/Search/keyword/C5orf49 http://www.informatics.jax.org/searchtool/Search.do?query=C5orf49&submit=Quick%0D%18319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C5orf49 rs6883562 0.177316 0.2311 0.2134 0.42 5 12 exonic exonic exonic C5orf49 C5orf49 ENSG00000215217 nonsynonymous SNV nonsynonymous SNV unknown C5orf49:NM_001089584:exon2:c.G204C:p.Q68H, C5orf49:uc003jea.5:exon2:c.G204C:p.Q68H, UNKNOWN Het;C>G 1011;67|54 Hom;C>G 2307;0|86 N N - 5 825280 825280 C T snp nonsynonymous SNV G1022A R341Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral ZDHHC11 Zdhhc11 ENSG00000188818 zinc finger DHHC-type containing 11 chr5:710471-851101 Tobacco Use Disorder GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC11 http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC11&submit=Quick%0D%16119ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC11 rs1809008 0.374201 0.2490 0.2223 0.09 1 11 exonic exonic exonic ZDHHC11 ZDHHC11 ENSG00000188818 nonsynonymous SNV nonsynonymous SNV unknown ZDHHC11:NM_024786:exon8:c.G1022A:p.R341Q, ZDHHC11:uc011cma.1:exon8:c.G1022A:p.R341Q, UNKNOWN Het;C>T 1052;27|40 Hom;C>T 1222;1|45 N N - 6 130152520 130152520 A C snp nonsynonymous SNV T331G F111V aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TMEM244 ENSG00000203756 transmembrane protein 244 chr6:130152389-130182692 Obesity; Exercise Test; Heart Failure GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM244 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM244&submit=Quick%0D%17133ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM244 rs7776426 0.242612 0.4000 0.3674 0.58 7 12 exonic exonic exonic TMEM244 TMEM244 ENSG00000203756 nonsynonymous SNV nonsynonymous SNV unknown TMEM244:NM_001010876:exon5:c.T331G:p.F111V, TMEM244:uc003qbs.3:exon5:c.T331G:p.F111V, UNKNOWN Het;A>C 678;48|36 Hom;A>C 2423;0|88 N N - 6 131148737 131148737 G A snp nonsynonymous SNV G184A V62M aliphatic,hydrophobic,neutral hydrophobic,neutral SMLR1 ENSG00000256162 small leucine rich protein 1 chr6:131148546-131158275 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SMLR1 http://www.informatics.jax.org/searchtool/Search.do?query=SMLR1&submit=Quick%0D%20174ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMLR1 rs1044303 0.479433 0 0.4148 0.71 5 7 exonic exonic exonic SMLR1 SMLR1 ENSG00000256162 nonsynonymous SNV nonsynonymous SNV unknown SMLR1:NM_001195597:exon1:c.G184A:p.V62M, SMLR1:uc011ebx.2:exon1:c.G184A:p.V62M, UNKNOWN Het;G>A 800;50|38 Hom;G>A 2499;1|93 N N - 6 132859609 132859609 T A snp splicing 180+1T>A TAAR9 Taar9 ENSG00000237110 trace amine associated receptor 9 (gene/pseudogene) chr6:132859429-132860470 TAAR9 is a member of a large family of rhodopsin G protein-coupled receptors (GPCRs, or GPRs). GPCRs contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Jul 2005] personality; Coronary Artery Disease G alpha (s) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IC GO:0001594;trace-amine receptor activity;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TAAR9 https://www.ncbi.nlm.nih.gov/omim/?term=608282 http://www.informatics.jax.org/searchtool/Search.do?query=TAAR9&submit=Quick%0D%19472ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAAR9 rs2842899 0.805711 0.7614 0.7533 1 0 0 exonic splicing exonic TAAR9 TAAR9(uc011eci.2:exon1:c.180+1T>A) ENSG00000237110 unknown Na unknown UNKNOWN Na UNKNOWN Het;T>A 2978;104|133 Hom;T>A 5601;0|207 N N - 6 133789728 133789728 G A snp nonsynonymous SNV G829A G277S aliphatic,neutral polar,hydrophilic,neutral EYA4 Eya4 ENSG00000112319 EYA transcriptional coactivator and phosphatase 4 chr6:133561736-133853258 This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] Arteries; Lipids; Heart Failure; Glucose; Cell Adhesion Molecules; protein quantitative trait loci; alpha-Macroglobulins; Tobacco Use Disorder; Blood Pressure Homozygous null mice show strain background-dependent postnatal lethality, reduced body weight, male sterility, a delay in palate bone fusion, developmental defects in the eustachian tube and middle ear cavity, early-onset hearing deficits, and profound susceptibility to otitis media with effusion. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0007601;visual perception;TAS|GO:0007605;sensory perception of sound;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0016576;histone dephosphorylation;IBA|GO:0030154;cell differentiation;IBA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0045739;positive regulation of DNA repair;IBA|GO:0048839;inner ear development;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IBA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IBA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EYA4 https://www.uniprot.org/uniprot/O95677 https://hpo.jax.org/app/browse/search?q=EYA4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603550 http://www.informatics.jax.org/searchtool/Search.do?query=EYA4&submit=Quick%0D%4227ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EYA4 rs9493627 0.409545 0.3830 0.3417 0.69 9 13 exonic exonic exonic EYA4 EYA4 ENSG00000112319 nonsynonymous SNV nonsynonymous SNV unknown EYA4:NM_001301013:exon11:c.G829A:p.G277S,EYA4:NM_172103:exon10:c.G760A:p.G254S,EYA4:NM_172105:exon11:c.G829A:p.G277S,EYA4:NM_004100:exon11:c.G829A:p.G277S,EYA4:NM_001301012:exon9:c.G667A:p.G223S, EYA4:uc011ecs.2:exon11:c.G829A:p.G277S,EYA4:uc003qee.4:exon10:c.G760A:p.G254S,EYA4:uc011ecq.2:exon10:c.G667A:p.G223S,EYA4:uc003qec.4:exon11:c.G829A:p.G277S,EYA4:uc003qed.4:exon11:c.G829A:p.G277S,EYA4:uc011ecr.2:exon9:c.G667A:p.G223S, UNKNOWN Het;G>A 1243;50|53 Hom;G>A 2335;0|83 N N - 6 139563914 139563914 C G snp nonsynonymous SNV G1804C A602P aliphatic,hydrophobic,neutral hydrophobic,neutral TXLNB Txlnb ENSG00000164440 taxilin beta chr6:139561198-139613276 Tobacco Use Disorder GO:0005737;cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TXLNB https://www.ncbi.nlm.nih.gov/omim/?term=611438 http://www.informatics.jax.org/searchtool/Search.do?query=TXLNB&submit=Quick%0D%11309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TXLNB rs9495391 0.483826 0.5172 0.3884 0.08 1 13 exonic exonic exonic TXLNB TXLNB ENSG00000164440 nonsynonymous SNV nonsynonymous SNV unknown TXLNB:NM_153235:exon10:c.G1804C:p.A602P, TXLNB:uc021zfy.1:exon10:c.G1804C:p.A602P, UNKNOWN Het;C>G 1438;70|61 Hom;C>G 1864;2|65 N N - 6 143091263 143091263 A G snp nonsynonymous SNV T4613C L1538P aliphatic,hydrophobic,neutral hydrophobic,neutral HIVEP2 Hivep2 ENSG00000010818 human immunodeficiency virus type I enhancer binding protein 2 chr6:143072604-143266338 This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012] Parkinson Disease; Erythrocyte Count; Cholesterol Mice homozygous for a knock-out allele display abnormal thymus anatomy, severely defective positive selection of CD4+ and CD8+ cells, and enhanced T-helper 2 cell differentiation. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007275;multicellular organism development;IBA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HIVEP2 https://www.uniprot.org/uniprot/P31629 https://hpo.jax.org/app/browse/search?q=HIVEP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=143054 http://www.informatics.jax.org/searchtool/Search.do?query=HIVEP2&submit=Quick%0D%534ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HIVEP2 rs109836 0.978834 0.9766 0.9731 0.15 2 13 exonic exonic exonic HIVEP2 HIVEP2 ENSG00000010818 nonsynonymous SNV nonsynonymous SNV unknown HIVEP2:NM_006734:exon5:c.T4613C:p.L1538P, HIVEP2:uc003qjd.3:exon5:c.T4613C:p.L1538P, UNKNOWN Het;A>G 1818;73|86 Hom;A>G 4176;0|155 N N - 6 144852201 144852201 G A snp nonsynonymous SNV G5920A A1974T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral UTRN Utrn ENSG00000152818 utrophin chr6:144606837-145174170 This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008] Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy. GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UTRN https://www.uniprot.org/uniprot/P46939 https://www.ncbi.nlm.nih.gov/omim/?term=128240 http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN rs12204734 0.128794 0.1414 0.1819 0.23 3 13 exonic exonic exonic UTRN UTRN ENSG00000152818 nonsynonymous SNV nonsynonymous SNV unknown UTRN:NM_007124:exon41:c.G5920A:p.A1974T, UTRN:uc003qkt.3:exon41:c.G5920A:p.A1974T, UNKNOWN Het;G>A 699;52|36 Hom;G>A 2088;0|77 N N - 6 144869785 144869785 A G snp nonsynonymous SNV A6605G N2202S polar,hydrophilic,neutral polar,hydrophilic,neutral UTRN Utrn ENSG00000152818 utrophin chr6:144606837-145174170 This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008] Leukocyte Count; Hypertension; Iron; Tobacco Use Disorder; Hip; Schizophrenia; Albumins Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy. GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0006936;muscle contraction;TAS|GO:0007517;muscle organ development;TAS|GO:0007528;neuromuscular junction development;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:2000649;regulation of sodium ion transmembrane transporter activity;ISS GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;TAS|GO:0016010;dystrophin-associated glycoprotein complex;IEA|GO:0016020;membrane;TAS|GO:0030054;cell junction;IEA|GO:0030175;filopodium;IDA|GO:0030426;growth cone;IEA|GO:0030864;cortical actin cytoskeleton;IEA|GO:0031527;filopodium membrane;IDA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0070938;contractile ring;IDA GO:0003779;actin binding;IDA|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/UTRN https://www.uniprot.org/uniprot/P46939 https://www.ncbi.nlm.nih.gov/omim/?term=128240 http://www.informatics.jax.org/searchtool/Search.do?query=UTRN&submit=Quick%0D%9597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UTRN rs1534443 0.373003 0.2558 0.3007 0.08 1 13 exonic exonic exonic UTRN UTRN ENSG00000152818 nonsynonymous SNV nonsynonymous SNV unknown UTRN:NM_007124:exon46:c.A6605G:p.N2202S, UTRN:uc003qkt.3:exon46:c.A6605G:p.N2202S, UNKNOWN Het;A>G 500;28|22 Hom;A>G 909;0|33 N N - 6 151894505 151894505 T C snp nonsynonymous SNV T971C F324S aromatic,hydrophobic,neutral polar,hydrophilic,neutral CCDC170 Ccdc170 ENSG00000120262 coiled-coil domain containing 170 chr6:151815165-151942328 The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010] Breast cancer; Bone mineral density (hip); Bone Density; Leukemia, Myeloid, Chronic-Phase; Bone mineral density (spine) GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC170 https://www.uniprot.org/uniprot/Q8IYT3 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC170&submit=Quick%0D%5185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC170 rs953767 0.941693 0.9137 0.9073 0.08 1 13 exonic exonic exonic CCDC170 CCDC170 ENSG00000120262 nonsynonymous SNV nonsynonymous SNV unknown CCDC170:NM_025059:exon6:c.T971C:p.F324S, CCDC170:uc003qol.3:exon6:c.T971C:p.F324S, UNKNOWN Het;T>C 1457;74|64 Hom;T>C 3160;0|109 N N - 6 151939181 151939181 G A snp nonsynonymous SNV G2047A V683I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CCDC170 Ccdc170 ENSG00000120262 coiled-coil domain containing 170 chr6:151815165-151942328 The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010] Breast cancer; Bone mineral density (hip); Bone Density; Leukemia, Myeloid, Chronic-Phase; Bone mineral density (spine) GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC170 https://www.uniprot.org/uniprot/Q8IYT3 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC170&submit=Quick%0D%5185ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC170 rs3734804 0.53155 0.6061 0.4982 0.15 2 13 exonic exonic exonic CCDC170 CCDC170 ENSG00000120262 nonsynonymous SNV nonsynonymous SNV unknown CCDC170:NM_025059:exon11:c.G2047A:p.V683I, CCDC170:uc003qol.3:exon11:c.G2047A:p.V683I, UNKNOWN Het;G>A 662;55|35 Hom;G>A 2159;0|79 N N - 6 159652931 159652931 G C snp nonsynonymous SNV G1387C E463Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral FNDC1 ENSG00000164694 fibronectin type III domain containing 1 chr6:159590429-159693141 Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a) GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA http://www.genecards.org/index.php?path=/Search/keyword/FNDC1 https://www.ncbi.nlm.nih.gov/omim/?term=609991 http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1 rs420137 0.784545 0.8530 0.8634 0.15 2 13 exonic exonic exonic FNDC1 FNDC1 ENSG00000164694 nonsynonymous SNV nonsynonymous SNV unknown FNDC1:NM_032532:exon11:c.G1387C:p.E463Q, FNDC1:uc010kjw.1:exon9:c.G1042C:p.E348Q,FNDC1:uc010kjv.3:exon11:c.G1387C:p.E463Q, UNKNOWN Het;G>C 1043;45|47 Hom;G>C 2093;0|76 N N - 6 159654551 159654551 C G snp nonsynonymous SNV C3007G Q1003E polar,hydrophilic,neutral polar,hydrophilic,charged(-) FNDC1 ENSG00000164694 fibronectin type III domain containing 1 chr6:159590429-159693141 Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a) GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA http://www.genecards.org/index.php?path=/Search/keyword/FNDC1 https://www.ncbi.nlm.nih.gov/omim/?term=609991 http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1 rs370434 0.785743 0.8522 0.8667 0.15 2 13 exonic exonic exonic FNDC1 FNDC1 ENSG00000164694 nonsynonymous SNV nonsynonymous SNV unknown FNDC1:NM_032532:exon11:c.C3007G:p.Q1003E, FNDC1:uc010kjw.1:exon9:c.C2662G:p.Q888E,FNDC1:uc010kjv.3:exon11:c.C3007G:p.Q1003E, UNKNOWN Het;C>G 2637;83|110 Hom;C>G 5661;0|189 N N - 6 159655084 159655084 C G snp nonsynonymous SNV C3540G D1180E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) FNDC1 ENSG00000164694 fibronectin type III domain containing 1 chr6:159590429-159693141 Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a) GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA http://www.genecards.org/index.php?path=/Search/keyword/FNDC1 https://www.ncbi.nlm.nih.gov/omim/?term=609991 http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1 rs420054 0.782348 0.8533 0.8367 0.08 1 13 exonic exonic exonic FNDC1 FNDC1 ENSG00000164694 nonsynonymous SNV nonsynonymous SNV unknown FNDC1:NM_032532:exon11:c.C3540G:p.D1180E, FNDC1:uc010kjw.1:exon9:c.C3195G:p.D1065E,FNDC1:uc010kjv.3:exon11:c.C3540G:p.D1180E, UNKNOWN Het;C>G 178;22|9 Hom;C>G 1235;0|44 N N - 6 159655326 159655326 T C snp nonsynonymous SNV T3782C L1261P aliphatic,hydrophobic,neutral hydrophobic,neutral FNDC1 ENSG00000164694 fibronectin type III domain containing 1 chr6:159590429-159693141 Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a) GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA http://www.genecards.org/index.php?path=/Search/keyword/FNDC1 https://www.ncbi.nlm.nih.gov/omim/?term=609991 http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1 rs3003174 0.786142 0.8503 0.8680 0.15 2 13 exonic exonic exonic FNDC1 FNDC1 ENSG00000164694 nonsynonymous SNV nonsynonymous SNV unknown FNDC1:NM_032532:exon11:c.T3782C:p.L1261P, FNDC1:uc010kjw.1:exon9:c.T3437C:p.L1146P,FNDC1:uc010kjv.3:exon11:c.T3782C:p.L1261P, UNKNOWN Het;T>C 1235;65|60 Hom;T>C 2634;0|98 N N - 6 159655383 159655383 A G snp nonsynonymous SNV A3839G Q1280R polar,hydrophilic,neutral polar,hydrophilic,charged(+) FNDC1 ENSG00000164694 fibronectin type III domain containing 1 chr6:159590429-159693141 Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a) GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA http://www.genecards.org/index.php?path=/Search/keyword/FNDC1 https://www.ncbi.nlm.nih.gov/omim/?term=609991 http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1 rs2501176 0.786142 0.8509 0.8680 0.08 1 13 exonic exonic exonic FNDC1 FNDC1 ENSG00000164694 nonsynonymous SNV nonsynonymous SNV unknown FNDC1:NM_032532:exon11:c.A3839G:p.Q1280R, FNDC1:uc010kjw.1:exon9:c.A3494G:p.Q1165R,FNDC1:uc010kjv.3:exon11:c.A3839G:p.Q1280R, UNKNOWN Het;A>G 3349;89|87 Hom;A>G 5620;1|131 N N - 6 159660779 159660797 GCCACCACCCGCCGCACGA G indel nonframeshift substitution 4066_4084G FNDC1 ENSG00000164694 fibronectin type III domain containing 1 chr6:159590429-159693141 Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a) GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA http://www.genecards.org/index.php?path=/Search/keyword/FNDC1 https://www.ncbi.nlm.nih.gov/omim/?term=609991 http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1 rs141435210 0.496406 0.8069 0.8594 1 0 0 exonic exonic exonic FNDC1 FNDC1 ENSG00000164694 nonframeshift substitution nonframeshift substitution unknown FNDC1:NM_032532:exon14:c.4411_4429G, FNDC1:uc010kjw.1:exon12:c.4066_4084G,FNDC1:uc010kjv.3:exon14:c.4411_4429G, UNKNOWN Het;-CCACCACCCGCCGCACGA 5289;156|141 Hom;-CCACCACCCGCCGCACGA 8788;0|204 N N - 6 159660879 159660879 C A snp nonsynonymous SNV C4511A T1504K polar,hydrophilic,neutral polar,hydrophilic,charged(+) FNDC1 ENSG00000164694 fibronectin type III domain containing 1 chr6:159590429-159693141 Erythrocytes; Coronary Artery Disease; Pulse; Tobacco Use Disorder; Coronary Disease; Body Fat Distribution; Lipoprotein(a) GO:0005576;extracellular region;IEA|GO:0016607;nuclear speck;IDA http://www.genecards.org/index.php?path=/Search/keyword/FNDC1 https://www.ncbi.nlm.nih.gov/omim/?term=609991 http://www.informatics.jax.org/searchtool/Search.do?query=FNDC1&submit=Quick%0D%11367ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FNDC1 rs386360 0.784944 0.8692 0.8672 0.15 2 13 exonic exonic exonic FNDC1 FNDC1 ENSG00000164694 nonsynonymous SNV nonsynonymous SNV unknown FNDC1:NM_032532:exon14:c.C4511A:p.T1504K, FNDC1:uc010kjw.1:exon12:c.C4166A:p.T1389K,FNDC1:uc010kjv.3:exon14:c.C4511A:p.T1504K, UNKNOWN Het;C>A 2943;116|133 Hom;C>A 4986;0|197 N N - 6 160560845 160560845 A G snp nonsynonymous SNV A1222G M408V hydrophobic,neutral aliphatic,hydrophobic,neutral SLC22A1 Slc22a1 ENSG00000175003 solute carrier family 22 member 1 chr6:160542821-160579750 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008] Diabetes Mellitus; Metabolism; Prostatic Neoplasms; hypertension; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; alcohol dependence; metformin efficacy; Tobacco Use Disorder; Lipoproteins; Leukemia, Myeloid, Chronic-Phase; Diabetes Mellitus, Type 2; leukemia; Cholesterol; Hyperparathyroidism, Secondary; renal clearance of metformin; Chronic renal failure|Kidney Failure, Chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Cholestasis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; null; drug-related genes ; Drug Toxicity|Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Cholesterol, LDL Mice homozygous for a knockout allele are viable, healthy, and fertile but exhibit an impaired liver uptake and direct intestinal excretion of substrate organic cations. Mice homozygous for a different knockout allele show alterations in metformin disposition and its glucose-lowering effects. Organic cation transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006836;neurotransmitter transport;IBA|GO:0006855;drug transmembrane transport;TAS|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IEA|GO:0015695;organic cation transport;TAS|GO:0015697;quaternary ammonium group transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015844;monoamine transport;IEA|GO:0015872;dopamine transport;IEA|GO:0015874;norepinephrine transport;IEA|GO:0048241;epinephrine transport;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0072488;ammonium transmembrane transport;IEA|GO:1901374;acetate ester transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA GO:0005215;transporter activity;IEA|GO:0005277;acetylcholine transmembrane transporter activity;IEA|GO:0005329;dopamine transmembrane transporter activity;IEA|GO:0005333;norepinephrine transmembrane transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008504;monoamine transmembrane transporter activity;IEA|GO:0008513;secondary active organic cation transmembrane transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0015101;organic cation transmembrane transporter activity;TAS|GO:0015651;quaternary ammonium group transmembrane transporter activity;IEA|GO:0022857;transmembrane transporter activity;IEA|GO:0042802;identical protein binding;IEA|GO:0042803;protein homodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A1 https://www.ncbi.nlm.nih.gov/omim/?term=602607 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A1&submit=Quick%0D%13620ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A1 rs628031 0.6877 0.6376 0.6405 0.08 1 13 exonic exonic exonic SLC22A1 SLC22A1 ENSG00000175003 nonsynonymous SNV nonsynonymous SNV unknown SLC22A1:NM_003057:exon7:c.A1222G:p.M408V,SLC22A1:NM_153187:exon7:c.A1222G:p.M408V, SLC22A1:uc003qtd.3:exon7:c.A1222G:p.M408V,SLC22A1:uc003qtc.3:exon7:c.A1222G:p.M408V, UNKNOWN Het;A>G 1070;79|53 Hom;A>G 2836;0|103 N N - 6 160560897 160560905 CTGGTAAGT C indel frameshift substitution 1274_1276C SLC22A1 Slc22a1 ENSG00000175003 solute carrier family 22 member 1 chr6:160542821-160579750 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008] Diabetes Mellitus; Metabolism; Prostatic Neoplasms; hypertension; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; alcohol dependence; metformin efficacy; Tobacco Use Disorder; Lipoproteins; Leukemia, Myeloid, Chronic-Phase; Diabetes Mellitus, Type 2; leukemia; Cholesterol; Hyperparathyroidism, Secondary; renal clearance of metformin; Chronic renal failure|Kidney Failure, Chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Cholestasis; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; null; drug-related genes ; Drug Toxicity|Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Cholesterol, LDL Mice homozygous for a knockout allele are viable, healthy, and fertile but exhibit an impaired liver uptake and direct intestinal excretion of substrate organic cations. Mice homozygous for a different knockout allele show alterations in metformin disposition and its glucose-lowering effects. Organic cation transport GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006836;neurotransmitter transport;IBA|GO:0006855;drug transmembrane transport;TAS|GO:0010248;establishment or maintenance of transmembrane electrochemical gradient;IEA|GO:0015695;organic cation transport;TAS|GO:0015697;quaternary ammonium group transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015844;monoamine transport;IEA|GO:0015872;dopamine transport;IEA|GO:0015874;norepinephrine transport;IEA|GO:0048241;epinephrine transport;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0072488;ammonium transmembrane transport;IEA|GO:1901374;acetate ester transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA GO:0005215;transporter activity;IEA|GO:0005277;acetylcholine transmembrane transporter activity;IEA|GO:0005329;dopamine transmembrane transporter activity;IEA|GO:0005333;norepinephrine transmembrane transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0008504;monoamine transmembrane transporter activity;IEA|GO:0008513;secondary active organic cation transmembrane transporter activity;IEA|GO:0008514;organic anion transmembrane transporter activity;IBA|GO:0015101;organic cation transmembrane transporter activity;TAS|GO:0015651;quaternary ammonium group transmembrane transporter activity;IEA|GO:0022857;transmembrane transporter activity;IEA|GO:0042802;identical protein binding;IEA|GO:0042803;protein homodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A1 https://www.ncbi.nlm.nih.gov/omim/?term=602607 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A1&submit=Quick%0D%13620ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A1 rs113569197 0.689497 0 0.6122 1 0 0 exonic exonic exonic SLC22A1 SLC22A1 ENSG00000175003 frameshift substitution frameshift substitution unknown SLC22A1:NM_003057:exon7:c.1274_1276C,SLC22A1:NM_153187:exon7:c.1274_1276C, SLC22A1:uc003qtd.3:exon7:c.1274_1276C,SLC22A1:uc003qtc.3:exon7:c.1274_1276C, UNKNOWN Het;-TGGTAAGT 1391;56|38 Hom;-TGGTAAGT 2536;0|58 N N - 6 167728791 167728791 G A snp nonsynonymous SNV G1099A V367I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral UNC93A Unc93a ENSG00000112494 unc-93 homolog A (C. elegans) chr6:167684657-167729507 GO:0008150;biological_process;ND GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/UNC93A https://www.uniprot.org/uniprot/Q86WB7 https://www.ncbi.nlm.nih.gov/omim/?term=607995 http://www.informatics.jax.org/searchtool/Search.do?query=UNC93A&submit=Quick%0D%4251ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UNC93A rs7739897 0.0690895 0.1055 0.0709 0.00 0 13 exonic exonic exonic UNC93A UNC93A ENSG00000112494 nonsynonymous SNV nonsynonymous SNV unknown UNC93A:NM_001143947:exon7:c.G1099A:p.V367I,UNC93A:NM_018974:exon8:c.G1225A:p.V409I, UNC93A:uc003qvq.3:exon8:c.G1225A:p.V409I,UNC93A:uc003qvr.3:exon7:c.G1099A:p.V367I, UNKNOWN Het;G>A 635;49|30 Hom;G>A 1483;4|56 N N - 6 167754721 167754721 G A snp nonsynonymous SNV G1333A G445S aliphatic,neutral polar,hydrophilic,neutral TTLL2 Ttll2 ENSG00000120440 tubulin tyrosine ligase like 2 chr6:167738574-167772991 Body Height Carboxyterminal post-translational modifications of tubulin GO:0006464;cellular protein modification process;IEA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TTLL2 https://www.uniprot.org/uniprot/Q9BWV7 http://www.informatics.jax.org/searchtool/Search.do?query=TTLL2&submit=Quick%0D%5208ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL2 rs9457304 0.0623003 0.1000 0.0687 0.08 1 13 exonic exonic exonic TTLL2 TTLL2 ENSG00000120440 nonsynonymous SNV nonsynonymous SNV unknown TTLL2:NM_031949:exon3:c.G1333A:p.G445S, TTLL2:uc003qvs.1:exon3:c.G1333A:p.G445S, UNKNOWN Het;G>A 2089;166|109 Hom;G>A 4910;2|174 N N - 6 168695345 168695345 G A snp nonsynonymous SNV C698T P233L hydrophobic,neutral aliphatic,hydrophobic,neutral DACT2 Dact2 ENSG00000164488 dishevelled binding antagonist of beta catenin 2 chr6:168693510-168720434 Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder Mice homozygous for a knock-out allele develop normally but display enhanced keratinocyte migration and accelerated re-epithelialization during cutaneous wound healing. GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0003382;epithelial cell morphogenesis;ISS|GO:0007162;negative regulation of cell adhesion;ISS|GO:0030111;regulation of Wnt signaling pathway;IBA|GO:0043588;skin development;ISS|GO:0072061;inner medullary collecting duct development;ISS|GO:1900108;negative regulation of nodal signaling pathway;ISS GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA GO:0005080;protein kinase C binding;IBA|GO:0008013;beta-catenin binding;IBA|GO:0008134;transcription factor binding;ISS|GO:0051018;protein kinase A binding;IBA|GO:0070097;delta-catenin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/DACT2 https://www.ncbi.nlm.nih.gov/omim/?term=608966 http://www.informatics.jax.org/searchtool/Search.do?query=DACT2&submit=Quick%0D%11319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DACT2 rs4708711 0.60603 0 0.6503 0.38 3 8 exonic intergenic exonic DACT2 FRMD1(dist=215488),DACT2(dist=12239) ENSG00000164488 nonsynonymous SNV Na unknown DACT2:NM_001286351:exon4:c.C698T:p.P233L, Na UNKNOWN Het;G>A 326;19|16 Hom;G>A 494;0|19 N N - 6 168708816 168708816 T G snp nonsynonymous SNV A1111C T371P polar,hydrophilic,neutral hydrophobic,neutral DACT2 Dact2 ENSG00000164488 dishevelled binding antagonist of beta catenin 2 chr6:168693510-168720434 Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder Mice homozygous for a knock-out allele develop normally but display enhanced keratinocyte migration and accelerated re-epithelialization during cutaneous wound healing. GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0003382;epithelial cell morphogenesis;ISS|GO:0007162;negative regulation of cell adhesion;ISS|GO:0030111;regulation of Wnt signaling pathway;IBA|GO:0043588;skin development;ISS|GO:0072061;inner medullary collecting duct development;ISS|GO:1900108;negative regulation of nodal signaling pathway;ISS GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA GO:0005080;protein kinase C binding;IBA|GO:0008013;beta-catenin binding;IBA|GO:0008134;transcription factor binding;ISS|GO:0051018;protein kinase A binding;IBA|GO:0070097;delta-catenin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/DACT2 https://www.ncbi.nlm.nih.gov/omim/?term=608966 http://www.informatics.jax.org/searchtool/Search.do?query=DACT2&submit=Quick%0D%11319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DACT2 rs10945501 0.504393 0 0.4538 0.08 1 13 exonic exonic exonic DACT2 DACT2 ENSG00000164488 nonsynonymous SNV nonsynonymous SNV unknown DACT2:NM_001286350:exon3:c.A1111C:p.T371P,DACT2:NM_214462:exon4:c.A1621C:p.T541P, DACT2:uc003qwq.3:exon4:c.A1621C:p.T541P, UNKNOWN Het;T>G 1769;45|47 Hom;T>G 2096;0|74 N N - 6 168709385 168709385 T C snp nonsynonymous SNV A542G E181G polar,hydrophilic,charged(-) aliphatic,neutral DACT2 Dact2 ENSG00000164488 dishevelled binding antagonist of beta catenin 2 chr6:168693510-168720434 Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder Mice homozygous for a knock-out allele develop normally but display enhanced keratinocyte migration and accelerated re-epithelialization during cutaneous wound healing. GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0003382;epithelial cell morphogenesis;ISS|GO:0007162;negative regulation of cell adhesion;ISS|GO:0030111;regulation of Wnt signaling pathway;IBA|GO:0043588;skin development;ISS|GO:0072061;inner medullary collecting duct development;ISS|GO:1900108;negative regulation of nodal signaling pathway;ISS GO:0005737;cytoplasm;IBA|GO:0005739;mitochondrion;IEA GO:0005080;protein kinase C binding;IBA|GO:0008013;beta-catenin binding;IBA|GO:0008134;transcription factor binding;ISS|GO:0051018;protein kinase A binding;IBA|GO:0070097;delta-catenin binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/DACT2 https://www.ncbi.nlm.nih.gov/omim/?term=608966 http://www.informatics.jax.org/searchtool/Search.do?query=DACT2&submit=Quick%0D%11319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DACT2 rs6925614 0.3752 0.3931 0.3907 0.08 1 13 exonic exonic exonic;splicing DACT2 DACT2 ENSG00000164488;ENSG00000164488 nonsynonymous SNV nonsynonymous SNV unknown DACT2:NM_001286350:exon3:c.A542G:p.E181G,DACT2:NM_214462:exon4:c.A1052G:p.E351G, DACT2:uc003qwq.3:exon4:c.A1052G:p.E351G, UNKNOWN Het;T>C 2058;95|93 Hom;T>C 4283;2|152 N N - 6 170068086 170068086 C T snp nonsynonymous SNV G652A G218S aliphatic,neutral polar,hydrophilic,neutral WDR27 Wdr27 ENSG00000184465 WD repeat domain 27 chr6:169857307-170102159 This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015] HIV-1; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder GO:0005654;nucleoplasm;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/WDR27 http://www.informatics.jax.org/searchtool/Search.do?query=WDR27&submit=Quick%0D%15212ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR27 rs41265385 0.197484 0.1309 0.1538 0.15 2 13 exonic exonic exonic WDR27 WDR27 ENSG00000184465 nonsynonymous SNV nonsynonymous SNV unknown WDR27:NM_182552:exon5:c.G652A:p.G218S, WDR27:uc003qwx.3:exon5:c.G652A:p.G218S, UNKNOWN Het;C>T 474;32|21 Hom;C>T 1288;0|45 N N - 6 170070723 170070723 A G snp nonsynonymous SNV T398C L133P aliphatic,hydrophobic,neutral hydrophobic,neutral WDR27 Wdr27 ENSG00000184465 WD repeat domain 27 chr6:169857307-170102159 This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015] HIV-1; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder GO:0005654;nucleoplasm;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/WDR27 http://www.informatics.jax.org/searchtool/Search.do?query=WDR27&submit=Quick%0D%15212ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR27 rs4236176 0.53734 0.3155 0.3950 0.08 1 13 exonic exonic exonic WDR27 WDR27 ENSG00000184465 nonsynonymous SNV nonsynonymous SNV unknown WDR27:NM_182552:exon4:c.T398C:p.L133P, WDR27:uc003qwx.3:exon4:c.T398C:p.L133P, UNKNOWN Het;A>G 1258;75|63 Hom;A>G 2584;1|100 N N - 6 170176467 170176467 A G snp nonsynonymous SNV A1558G K520E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) ERMARD Ermard ENSG00000276187 ER membrane associated RNA degradation chr6:170151718-170181680 The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] Periventricular Heterotopia GO:0007275;multicellular organism development;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERMARD https://www.uniprot.org/uniprot/Q5T6L9 https://hpo.jax.org/app/browse/search?q=ERMARD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615532 http://www.informatics.jax.org/searchtool/Search.do?query=ERMARD&submit=Quick%0D%21546ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMARD rs4716345 0.328275 0 0.3249 0.10 1 10 exonic exonic exonic ERMARD C6orf70 ENSG00000130023 nonsynonymous SNV nonsynonymous SNV unknown ERMARD:NM_001278531:exon16:c.A1558G:p.K520E, C6orf70:uc010kky.1:exon15:c.A1180G:p.K394E, UNKNOWN Het;A>G 1477;74|64 Hom;A>G 3711;0|126 N N - 6 170176648 170176648 A G snp nonsynonymous SNV A1618G S540G polar,hydrophilic,neutral aliphatic,neutral ERMARD Ermard ENSG00000276187 ER membrane associated RNA degradation chr6:170151718-170181680 The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] Periventricular Heterotopia GO:0007275;multicellular organism development;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERMARD https://www.uniprot.org/uniprot/Q5T6L9 https://hpo.jax.org/app/browse/search?q=ERMARD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615532 http://www.informatics.jax.org/searchtool/Search.do?query=ERMARD&submit=Quick%0D%21546ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERMARD rs4716346 0.34365 0.3095 0.2662 0.08 1 13 exonic exonic exonic ERMARD C6orf70 ENSG00000130023 nonsynonymous SNV nonsynonymous SNV unknown ERMARD:NM_018341:exon16:c.A1618G:p.S540G,ERMARD:NM_001278532:exon15:c.A1240G:p.S414G, C6orf70:uc011ehb.1:exon15:c.A1240G:p.S414G,C6orf70:uc003qxg.1:exon16:c.A1618G:p.S540G,C6orf70:uc003qxi.1:exon6:c.A562G:p.S188G, UNKNOWN Het;A>G 2836;94|72 Hom;A>G 6450;0|143 N N - 6 24291203 24291203 T C snp nonsynonymous SNV A661G S221G polar,hydrophilic,neutral aliphatic,neutral DCDC2 Dcdc2a ENSG00000146038 doublecortin domain containing 2 chr6:24171984-24358280 This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013] Neurobehavioral Manifestations; Hypertrophy, Left Ventricular; ADHD | attention-deficit hyperactivity disorder; dyslexia; Schizophrenia; schizophrenia; reading disabilities; Stroke; Dyslexia; null Mice homozygous for a knock-out allele exhibit impaired short term object recognition, impaired visuo-spatial learning and memory and increased anxiety-related response. GO:0001764;neuron migration;IEA|GO:0006968;cellular defense response;TAS|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IMP|GO:0030030;cell projection organization;IEA|GO:0030111;regulation of Wnt signaling pathway;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0045880;positive regulation of smoothened signaling pathway;IMP|GO:0060271;cilium assembly;IMP|GO:1902017;regulation of cilium assembly;IMP GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0042995;cell projection;IEA|GO:0060091;kinocilium;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DCDC2 https://www.uniprot.org/uniprot/Q9UHG0 https://hpo.jax.org/app/browse/search?q=DCDC2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605755 http://www.informatics.jax.org/searchtool/Search.do?query=DCDC2&submit=Quick%0D%8825ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCDC2 rs2274305 0.516973 0.4825 0.6393 0.23 3 13 exonic exonic exonic DCDC2 DCDC2 ENSG00000146038 nonsynonymous SNV nonsynonymous SNV unknown DCDC2:NM_016356:exon5:c.A661G:p.S221G,DCDC2:NM_001195610:exon6:c.A661G:p.S221G, DCDC2:uc003ndx.3:exon5:c.A661G:p.S221G,DCDC2:uc003ndy.3:exon6:c.A661G:p.S221G, UNKNOWN Het;T>C 388;57|19 Hom;T>C 1881;0|67 N N - 6 24806594 24806594 C T snp splicing 189+1G>A RIPOR2 rs9358799 0.357827 0.4628 0.4608 1 0 0 UTR3 UTR3 splicing FAM65B(NM_014722:c.*7G>A,NM_001286445:c.*7G>A) FAM65B(uc003neo.1:c.*7G>A,uc011djs.1:c.*7G>A) ENSG00000111913(ENST00000562221:exon3:c.189+1G>A) Na Na Na Na Na Na Het;C>T 662;42|35 Hom;C>T 1470;0|55 N N - 6 26107790 26107790 G T snp nonsynonymous SNV C532A Q178K polar,hydrophilic,neutral polar,hydrophilic,charged(+) HIST1H1T Hist1h1t ENSG00000187475 histone cluster 1 H1 family member t chr6:26107640-26108364 Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015] Hemoglobins; Blood Pressure; leukemia; Bilirubin; Abortion, Spontaneous Homozygous null mice develop normally and exhibit normal testicular morphology, spermatogenesis and fertility. GO:0006334;nucleosome assembly;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;TAS|GO:0030154;cell differentiation;IEA GO:0000786;nucleosome;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HIST1H1T https://www.ncbi.nlm.nih.gov/omim/?term=142712 http://www.informatics.jax.org/searchtool/Search.do?query=HIST1H1T&submit=Quick%0D%15825ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HIST1H1T rs198845 0.244409 0.3013 0.3313 0.33 4 12 exonic exonic exonic HIST1H1T HIST1H1T ENSG00000187475 nonsynonymous SNV nonsynonymous SNV unknown HIST1H1T:NM_005323:exon1:c.C532A:p.Q178K, HIST1H1T:uc003ngj.3:exon1:c.C532A:p.Q178K, UNKNOWN Het;G>T 647;37|33 Hom;G>T 1679;0|64 N N - 6 26108282 26108282 C G snp nonsynonymous SNV G40C V14L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral HIST1H1T Hist1h1t ENSG00000187475 histone cluster 1 H1 family member t chr6:26107640-26108364 Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015] Hemoglobins; Blood Pressure; leukemia; Bilirubin; Abortion, Spontaneous Homozygous null mice develop normally and exhibit normal testicular morphology, spermatogenesis and fertility. GO:0006334;nucleosome assembly;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;TAS|GO:0030154;cell differentiation;IEA GO:0000786;nucleosome;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HIST1H1T https://www.ncbi.nlm.nih.gov/omim/?term=142712 http://www.informatics.jax.org/searchtool/Search.do?query=HIST1H1T&submit=Quick%0D%15825ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HIST1H1T rs198844 0.407947 0.4834 0.4867 0.08 1 13 exonic exonic exonic HIST1H1T HIST1H1T ENSG00000187475 nonsynonymous SNV nonsynonymous SNV unknown HIST1H1T:NM_005323:exon1:c.G40C:p.V14L, HIST1H1T:uc003ngj.3:exon1:c.G40C:p.V14L, UNKNOWN Het;C>G 996;27|39 Hom;C>G 1882;0|68 N N - 6 41309552 41309552 T C snp nonsynonymous SNV T415C S139P polar,hydrophilic,neutral hydrophobic,neutral NCR2 ENSG00000096264 natural cytotoxicity triggering receptor 2 chr6:41303393-41318625 Stroke; Heart Rate; Alzheimer Disease; Coronary Artery Disease DAP12 interactions GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;TAS|GO:0045087;innate immune response;TAS|GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004888;transmembrane signaling receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/NCR2 https://www.uniprot.org/uniprot/O95944 https://www.ncbi.nlm.nih.gov/omim/?term=604531 http://www.informatics.jax.org/searchtool/Search.do?query=NCR2&submit=Quick%0D%2279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR2 rs2236369 0.489617 0.4752 0.5771 0.17 2 12 exonic exonic exonic NCR2 NCR2 ENSG00000096264 nonsynonymous SNV nonsynonymous SNV unknown NCR2:NM_001199509:exon3:c.T415C:p.S139P,NCR2:NM_004828:exon3:c.T415C:p.S139P,NCR2:NM_001199510:exon3:c.T415C:p.S139P, NCR2:uc003oqh.2:exon3:c.T415C:p.S139P,NCR2:uc003oqj.2:exon3:c.T415C:p.S139P,NCR2:uc003oqi.2:exon3:c.T415C:p.S139P, UNKNOWN Het;T>C 935;62|46 Hom;T>C 2218;0|82 N N - 6 41318438 41318438 A G snp nonsynonymous SNV A667G M223V hydrophobic,neutral aliphatic,hydrophobic,neutral NCR2 ENSG00000096264 natural cytotoxicity triggering receptor 2 chr6:41303393-41318625 Stroke; Heart Rate; Alzheimer Disease; Coronary Artery Disease DAP12 interactions GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;TAS|GO:0045087;innate immune response;TAS|GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004888;transmembrane signaling receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/NCR2 https://www.uniprot.org/uniprot/O95944 https://www.ncbi.nlm.nih.gov/omim/?term=604531 http://www.informatics.jax.org/searchtool/Search.do?query=NCR2&submit=Quick%0D%2279ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR2 rs2273962 0.726837 0.6982 0.7589 0.09 1 11 exonic exonic exonic NCR2 NCR2 ENSG00000096264 nonsynonymous SNV nonsynonymous SNV unknown NCR2:NM_004828:exon5:c.A667G:p.M223V, NCR2:uc003oqh.2:exon5:c.A667G:p.M223V, UNKNOWN Het;A>G 633;25|33 Hom;A>G 808;0|32 N N - 6 42666061 42666061 T C snp nonsynonymous SNV A1013G D338G polar,hydrophilic,charged(-) aliphatic,neutral PRPH2 Prph2 ENSG00000112619 peripherin 2 chr6:42664340-42690312 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008] Adult vitelliform macular dystrophy; macular and peripheral retinal degeneration; Autosomal dominant cone-rod dystrophy; retinal dystrophy; Retinal Diseases; Macular Degeneration; Retinitis Pigmentosa; bull's-eye maculopathy detected by nonradioisotopic SSCP; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; pattern dystrophy of the retina; cone-rod dystrophy; retinitis pigmentosa Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis. GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007601;visual perception;TAS|GO:0060041;retina development in camera-type eye;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/PRPH2 https://www.uniprot.org/uniprot/P23942 https://hpo.jax.org/app/browse/search?q=PRPH2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=179605 http://www.informatics.jax.org/searchtool/Search.do?query=PRPH2&submit=Quick%0D%4267ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPH2 rs434102 0.757388 0.7768 0.7790 0.30 3 10 exonic exonic exonic PRPH2 PRPH2 ENSG00000112619 nonsynonymous SNV nonsynonymous SNV unknown PRPH2:NM_000322:exon3:c.A1013G:p.D338G, PRPH2:uc003osk.3:exon3:c.A1013G:p.D338G, UNKNOWN Het;T>C 2004;107|97 Hom;T>C 4775;2|168 N N - 6 42666164 42666164 G C snp nonsynonymous SNV C910G Q304E polar,hydrophilic,neutral polar,hydrophilic,charged(-) PRPH2 Prph2 ENSG00000112619 peripherin 2 chr6:42664340-42690312 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008] Adult vitelliform macular dystrophy; macular and peripheral retinal degeneration; Autosomal dominant cone-rod dystrophy; retinal dystrophy; Retinal Diseases; Macular Degeneration; Retinitis Pigmentosa; bull's-eye maculopathy detected by nonradioisotopic SSCP; Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome; pattern dystrophy of the retina; cone-rod dystrophy; retinitis pigmentosa Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis. GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007601;visual perception;TAS|GO:0060041;retina development in camera-type eye;IEA GO:0001750;photoreceptor outer segment;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/PRPH2 https://www.uniprot.org/uniprot/P23942 https://hpo.jax.org/app/browse/search?q=PRPH2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=179605 http://www.informatics.jax.org/searchtool/Search.do?query=PRPH2&submit=Quick%0D%4267ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRPH2 rs390659 0.756589 0.7768 0.7774 0.30 3 10 exonic exonic exonic PRPH2 PRPH2 ENSG00000112619 nonsynonymous SNV nonsynonymous SNV unknown PRPH2:NM_000322:exon3:c.C910G:p.Q304E, PRPH2:uc003osk.3:exon3:c.C910G:p.Q304E, UNKNOWN Het;G>C 1634;108|77 Hom;G>C 4151;0|147 N N - 6 42932200 42932200 G T snp nonsynonymous SNV C2816A P939Q hydrophobic,neutral polar,hydrophilic,neutral PEX6 Pex6 ENSG00000124587 peroxisomal biogenesis factor 6 chr6:42931608-42946958 This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] ZELLWEGER SYNDROME GO:0006625;protein targeting to peroxisome;IMP|GO:0007031;peroxisome organization;IEA|GO:0016561;protein import into peroxisome matrix, translocation;IMP|GO:0050821;protein stabilization;IMP GO:0001750;photoreceptor outer segment;IEA|GO:0005737;cytoplasm;IDA|GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0097733;photoreceptor cell cilium;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016887;ATPase activity;IMP|GO:0032403;protein complex binding;IDA|GO:0042623;ATPase activity, coupled;IMP http://www.genecards.org/index.php?path=/Search/keyword/PEX6 https://www.uniprot.org/uniprot/Q13608 https://hpo.jax.org/app/browse/search?q=PEX6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601498 http://www.informatics.jax.org/searchtool/Search.do?query=PEX6&submit=Quick%0D%5683ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX6 rs1129187 0.33147 0.4269 0.3911 0.15 2 13 exonic exonic exonic PEX6 PEX6 ENSG00000124587 nonsynonymous SNV nonsynonymous SNV unknown PEX6:NM_000287:exon17:c.C2816A:p.P939Q, PEX6:uc003otf.3:exon17:c.C2816A:p.P939Q, UNKNOWN Het;G>T 1389;35|38 Hom;G>T 2588;0|60 N N - 6 43273604 43273604 A G snp nonsynonymous SNV T563C I188T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral CRIP3 Crip3 ENSG00000146215 cysteine rich protein 3 chr6:43267448-43276535 Homozygous mutant mice exhibit a decrease in thymocyte cellularity, though thymocyte development and thymic architecture appear to be normal. GO:0005737;cytoplasm;IEA GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CRIP3 https://www.uniprot.org/uniprot/Q6Q6R5 http://www.informatics.jax.org/searchtool/Search.do?query=CRIP3&submit=Quick%0D%8849ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRIP3 rs2242416 0.416933 0.4419 0.5337 0.45 5 11 exonic exonic exonic CRIP3 CRIP3 ENSG00000146215 nonsynonymous SNV nonsynonymous SNV unknown CRIP3:NM_206922:exon8:c.T563C:p.I188T, CRIP3:uc003ouu.1:exon8:c.T563C:p.I188T, UNKNOWN Het;A>G 1342;101|68 Hom;A>G 4027;0|145 N N - 6 47646842 47646842 A G snp nonsynonymous SNV A239G Q80R polar,hydrophilic,neutral polar,hydrophilic,charged(+) ADGRF2 Adgrf2 rs6907125 0.516973 0.5908 0.5935 0.08 1 13 exonic exonic exonic ADGRF2 GPR111 ENSG00000164393 nonsynonymous SNV nonsynonymous SNV unknown ADGRF2:NM_153839:exon5:c.A239G:p.Q80R, GPR111:uc003oyy.3:exon5:c.A239G:p.Q80R,GPR111:uc010jzj.1:exon4:c.A443G:p.Q148R, UNKNOWN Het;A>G 2051;114|97 Hom;A>G 5667;0|207 N N - 6 47649574 47649574 A G snp nonsynonymous SNV A1075G K359E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) ADGRF2 Adgrf2 rs10807372 0.509385 0.5846 0.5908 0.08 1 13 exonic exonic exonic ADGRF2 GPR111 ENSG00000164393 nonsynonymous SNV nonsynonymous SNV unknown ADGRF2:NM_153839:exon7:c.A1075G:p.K359E, GPR111:uc003oyy.3:exon7:c.A1075G:p.K359E,GPR111:uc010jzj.1:exon6:c.A1279G:p.K427E, UNKNOWN Het;A>G 1260;75|36 Hom;A>G 4687;1|105 N N - 6 47649694 47649694 A G snp nonsynonymous SNV A1195G I399V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ADGRF2 Adgrf2 rs9381594 0.520966 0.5947 0.5954 0.54 7 13 exonic exonic exonic ADGRF2 GPR111 ENSG00000164393 nonsynonymous SNV nonsynonymous SNV unknown ADGRF2:NM_153839:exon7:c.A1195G:p.I399V, GPR111:uc003oyy.3:exon7:c.A1195G:p.I399V,GPR111:uc010jzj.1:exon6:c.A1399G:p.I467V, UNKNOWN Het;A>G 2206;141|110 Hom;A>G 6373;1|237 N N - 6 54079968 54079968 G A snp nonsynonymous SNV G2716A G906R aliphatic,neutral polar,hydrophilic,charged(+) MLIP Mlip ENSG00000146147 muscular LMNA interacting protein chr6:53794780-54131078 Tobacco Use Disorder Mice homozygous for a null allele display increased cardiac sensitivity to induced stress. GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0016605;PML body;IEA|GO:0031981;nuclear lumen;ISS http://www.genecards.org/index.php?path=/Search/keyword/MLIP https://www.uniprot.org/uniprot/Q5VWP3 https://www.ncbi.nlm.nih.gov/omim/?term=614106 http://www.informatics.jax.org/searchtool/Search.do?query=MLIP&submit=Quick%0D%8843ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MLIP rs11757700 0.655152 0 0.7491 0.09 1 11 exonic exonic exonic MLIP MLIP ENSG00000146147 nonsynonymous SNV nonsynonymous SNV unknown MLIP:NM_001281746:exon12:c.G2716A:p.G906R, MLIP:uc003pcf.2:exon12:c.G2716A:p.G906R, UNKNOWN Het;G>A 584;39|32 Hom;G>A 2131;0|78 N N - 6 64694354 64694354 C T snp nonsynonymous SNV G6977A R2326Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral EYS ENSG00000188107 eyes shut homolog (Drosophila) chr6:64429876-66417118 The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Tunica Media; Tobacco Use Disorder; Prostatic Neoplasms; Blood Coagulation Factors; Echocardiography; Platelet Count; Retinitis Pigmentosa Mice with disruptions in this gene are grossly normal and viable through adulthood. GO:0007601;visual perception;IEA|GO:0043403;skeletal muscle tissue regeneration;IMP|GO:0050896;response to stimulus;IEA|GO:0050908;detection of light stimulus involved in visual perception;IMP GO:0005576;extracellular region;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EYS https://hpo.jax.org/app/browse/search?q=EYS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612424 http://www.informatics.jax.org/searchtool/Search.do?query=EYS&submit=Quick%0D%15968ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EYS rs4710457 0.349641 0.3611 0.3632 0.08 1 12 exonic exonic exonic EYS EYS ENSG00000188107 nonsynonymous SNV nonsynonymous SNV unknown EYS:NM_001292009:exon35:c.G6977A:p.R2326Q,EYS:NM_001142800:exon35:c.G6977A:p.R2326Q, EYS:uc011dxt.1:exon15:c.G3713A:p.R1238Q,EYS:uc011dxu.1:exon35:c.G6977A:p.R2326Q, UNKNOWN Het;C>T 847;63|47 Hom;C>T 3389;0|129 N N - 6 71238105 71238105 A G snp nonsynonymous SNV A3086G D1029G polar,hydrophilic,charged(-) aliphatic,neutral FAM135A Fam135a ENSG00000082269 family with sequence similarity 135 member A chr6:71122644-71270877 Tobacco Use Disorder; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis GO:0044255;cellular lipid metabolic process;IBA GO:0052689;carboxylic ester hydrolase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/FAM135A https://www.uniprot.org/uniprot/Q9P2D6 http://www.informatics.jax.org/searchtool/Search.do?query=FAM135A&submit=Quick%0D%1798ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM135A rs2747701 0.339257 0.3475 0.4150 0.46 6 13 exonic exonic exonic FAM135A FAM135A ENSG00000082269 nonsynonymous SNV nonsynonymous SNV unknown FAM135A:NM_020819:exon15:c.A3086G:p.D1029G,FAM135A:NM_001105531:exon16:c.A3137G:p.D1046G,FAM135A:NM_001162529:exon14:c.A3725G:p.D1242G, FAM135A:uc003pfi.3:exon16:c.A3137G:p.D1046G,FAM135A:uc003pfj.3:exon14:c.A3725G:p.D1242G,FAM135A:uc003pfo.1:exon2:c.A1838G:p.D613G,FAM135A:uc003pfl.3:exon14:c.A2726G:p.D909G,FAM135A:uc010kan.2:exon1:c.A62G:p.D21G,FAM135A:uc003pfh.3:exon15:c.A3086G:p.D1029G,FAM135A:uc003pfn.3:exon4:c.A1343G:p.D448G, UNKNOWN Het;A>G 1083;52|52 Hom;A>G 2587;0|99 N N - 6 88108048 88108051 AGAT A indel nonframeshift substitution 200_203A C6orf164 rs368228855 0.711462 0 0.7557 1 0 0 ncRNA_exonic exonic exonic LINC01590 C6orf164 ENSG00000203871 Na nonframeshift substitution unknown Na C6orf164:uc021zcm.2:exon3:c.200_203A, UNKNOWN Het;-GAT 2138;53|56 Hom;-GAT 4707;0|107 N N - 6 88366708 88366708 C T snp nonsynonymous SNV C1604T S535L polar,hydrophilic,neutral aliphatic,hydrophobic,neutral ORC3 Orc3 ENSG00000135336 origin recognition complex subunit 3 chr6:88299839-88377169 The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008] Leukemia, Lymphocytic, Chronic, B-Cell; longevity Mice homozygous for a conditional allele activated in the neural cells exhibit reduced neuronal precursor proliferation and reduced radial glial cell. Removal of licensing factors from origins GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0006260;DNA replication;TAS|GO:0006267;pre-replicative complex assembly involved in nuclear cell cycle DNA replication;IBA|GO:0006270;DNA replication initiation;IBA|GO:0061351;neural precursor cell proliferation;IEA GO:0000784;nuclear chromosome, telomeric region;IDA|GO:0000808;origin recognition complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005656;nuclear pre-replicative complex;IBA|GO:0005664;nuclear origin of replication recognition complex;IDA|GO:0016604;nuclear body;IDA|GO:0031261;DNA replication preinitiation complex;IBA GO:0003677;DNA binding;IEA|GO:0003688;DNA replication origin binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ORC3 https://www.uniprot.org/uniprot/Q9UBD5 https://www.ncbi.nlm.nih.gov/omim/?term=604972 http://www.informatics.jax.org/searchtool/Search.do?query=ORC3&submit=Quick%0D%7126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ORC3 rs2307373 0.335064 0.3309 0.3873 1 0 0 intronic exonic intronic ORC3 ORC3 ENSG00000135336 Na nonsynonymous SNV Na Na ORC3:uc011dzm.2:exon15:c.C1604T:p.S535L,ORC3:uc011dzl.2:exon15:c.C1601T:p.S534L, Na Het;C>T 712;44|37 Hom;C>T 1939;0|79 N N - 7 100486754 100486754 G C snp nonsynonymous SNV C139G L47V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral UFSP1 Ufsp1 ENSG00000176125 UFM1 specific peptidase 1 (inactive) chr7:100486346-100487339 This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009] Heart Rate GO:0006508;proteolysis;IEA|GO:0008150;biological_process;ND GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0008234;cysteine-type peptidase activity;IEA|GO:0071567;UFM1 hydrolase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/UFSP1 https://www.ncbi.nlm.nih.gov/omim/?term=611481 http://www.informatics.jax.org/searchtool/Search.do?query=UFSP1&submit=Quick%0D%13804ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UFSP1 rs12666989 0.0884585 0.1369 0.1560 0.15 2 13 exonic exonic exonic UFSP1 UFSP1 ENSG00000176125 nonsynonymous SNV nonsynonymous SNV unknown UFSP1:NM_001015072:exon1:c.C139G:p.L47V, UFSP1:uc003uxc.4:exon1:c.C139G:p.L47V, UNKNOWN Het;G>C 594;39|29 Hom;G>C 1802;2|66 N N - 7 100637193 100637193 C A snp nonsynonymous SNV C3349A P1117T hydrophobic,neutral polar,hydrophilic,neutral MUC12 ENSG00000205277 mucin 12, cell surface associated chr7:100612904-100662230 Termination of O-glycan biosynthesis GO:0001558;regulation of cell growth;NAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0016266;O-glycan processing;TAS GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/MUC12 https://www.ncbi.nlm.nih.gov/omim/?term=604609 http://www.informatics.jax.org/searchtool/Search.do?query=MUC12&submit=Quick%0D%17489ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC12 rs10247974 0.264577 0 0.4730 0.11 1 9 exonic exonic exonic MUC12 MUC12 ENSG00000205277 nonsynonymous SNV nonsynonymous SNV unknown MUC12:NM_001164462:exon2:c.C3349A:p.P1117T, MUC12:uc003uxo.3:exon2:c.C3349A:p.P1117T, UNKNOWN Het;C>A 539;5|21 Hom;C>A 380;0|13 N N - 7 101928495 101928495 G C snp nonsynonymous SNV G46C A16P aliphatic,hydrophobic,neutral hydrophobic,neutral SH2B2 Sh2b2 ENSG00000160999 SH2B adaptor protein 2 chr7:101928405-101962178 The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009] prostate-specific antigen levels Inactivation of this gene results in increased insulin sensitivity accompanied by hypoinsulinemia. GO:0001922;B-1 B cell homeostasis;IEA|GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0019222;regulation of metabolic process;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0046578;regulation of Ras protein signal transduction;IEA|GO:0050776;regulation of immune response;IEA|GO:0050851;antigen receptor-mediated signaling pathway;IEA|GO:0050873;brown fat cell differentiation;IEA GO:0001725;stress fiber;IEA|GO:0001726;ruffle;IEA|GO:0005829;cytosol;IDA|GO:0005884;actin filament;IEA GO:0004871;signal transducer activity;IEA|GO:0005068;transmembrane receptor protein tyrosine kinase adaptor activity;IEA|GO:0005070;SH3/SH2 adaptor activity;IEA|GO:0035591;signaling adaptor activity;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SH2B2 https://www.ncbi.nlm.nih.gov/omim/?term=605300 http://www.informatics.jax.org/searchtool/Search.do?query=SH2B2&submit=Quick%0D%10545ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2B2 rs803074 0.538538 0.6371 0.6012 1 0 0 exonic exonic exonic SH2B2 SH2B2 ENSG00000160999 unknown nonsynonymous SNV unknown UNKNOWN SH2B2:uc011kko.2:exon1:c.G46C:p.A16P, UNKNOWN Het;G>C 980;57|50 Hom;G>C 2853;0|109 N N - 7 103251161 103251161 G C snp nonsynonymous SNV C2989G L997V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RELN Reln ENSG00000189056 reelin chr7:103112231-103629963 This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Multiple Sclerosis; Autism; Tobacco Use Disorder; several psychiatric disorders; breast cancer; autistic spectrum disorder ; Schizophrenia; Hip; null; Blood Pressure; multiple sclerosis (age of onset); Weight Gain; Alzheimer's disease ; smoking cessation; Gout; Neutrophils; Neurofibrillary Tangles; Bipolar Disorder; schizophrenia; autism; Otosclerosis Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility. Reelin signalling pathway GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0001764;neuron migration;IEA|GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0007612;learning;IEA|GO:0007616;long-term memory;IEA|GO:0008306;associative learning;IEA|GO:0010001;glial cell differentiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IEA|GO:0016358;dendrite development;IEA|GO:0016477;cell migration;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021511;spinal cord patterning;IEA|GO:0021517;ventral spinal cord development;IEA|GO:0021766;hippocampus development;IEA|GO:0021800;cerebral cortex tangential migration;IEA|GO:0021819;layer formation in cerebral cortex;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030900;forebrain development;IEA|GO:0032008;positive regulation of TOR signaling;IEA|GO:0032793;positive regulation of CREB transcription factor activity;IEA|GO:0035418;protein localization to synapse;IEA|GO:0038026;reelin-mediated signaling pathway;ISS|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0048265;response to pain;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050795;regulation of behavior;IEA|GO:0050804;modulation of synaptic transmission;IEA|GO:0051057;positive regulation of small GTPase mediated signal transduction;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0061003;positive regulation of dendritic spine morphogenesis;IEA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA|GO:0090129;positive regulation of synapse maturation;IEA|GO:0097114;NMDA glutamate receptor clustering;IEA|GO:0097119;postsynaptic density protein 95 clustering;IEA|GO:0097120;receptor localization to synapse;IEA|GO:0097477;lateral motor column neuron migration;IEA|GO:1900273;positive regulation of long-term synaptic potentiation;IEA|GO:1902078;positive regulation of lateral motor column neuron migration;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;IEA|GO:2000969;positive regulation of AMPA receptor activity;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA GO:0004712;protein serine/threonine/tyrosine kinase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0070325;lipoprotein particle receptor binding;ISS|GO:0070326;very-low-density lipoprotein particle receptor binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/RELN https://hpo.jax.org/app/browse/search?q=RELN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600514 http://www.informatics.jax.org/searchtool/Search.do?query=RELN&submit=Quick%0D%16170ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RELN rs362691 0.121006 0.0969 0.1166 0.31 4 13 exonic exonic exonic RELN RELN ENSG00000189056 nonsynonymous SNV nonsynonymous SNV unknown RELN:NM_173054:exon22:c.C2989G:p.L997V,RELN:NM_005045:exon22:c.C2989G:p.L997V, RELN:uc022ajr.1:exon22:c.C2989G:p.L997V,RELN:uc010liz.3:exon22:c.C2989G:p.L997V,RELN:uc022ajq.1:exon22:c.C2989G:p.L997V, UNKNOWN Het;G>C 986;57|51 Hom;G>C 2795;0|102 N N - 7 123152019 123152019 C T snp nonsynonymous SNV G376A V126M aliphatic,hydrophobic,neutral hydrophobic,neutral IQUB Iqub ENSG00000164675 IQ motif and ubiquitin domain containing chr7:123092454-123175131 HIV Infections|[X]Human immunodeficiency virus disease GO:0007224;smoothened signaling pathway;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA GO:0001669;acrosomal vesicle;IEA|GO:0031514;motile cilium;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IQUB http://www.informatics.jax.org/searchtool/Search.do?query=IQUB&submit=Quick%0D%11360ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQUB rs10255061 0.267971 0.2572 0.2829 0.15 2 13 exonic exonic exonic IQUB IQUB ENSG00000164675 nonsynonymous SNV nonsynonymous SNV unknown IQUB:NM_001282855:exon2:c.G376A:p.V126M,IQUB:NM_178827:exon2:c.G376A:p.V126M, IQUB:uc003vkq.2:exon2:c.G376A:p.V126M,IQUB:uc003vkp.1:exon2:c.G376A:p.V126M,IQUB:uc003vkn.3:exon2:c.G376A:p.V126M,IQUB:uc003vko.3:exon2:c.G376A:p.V126M, UNKNOWN Het;C>T 948;66|48 Hom;C>T 2489;0|87 N N - 7 123256427 123256427 C T snp nonsynonymous SNV C170T P57L hydrophobic,neutral aliphatic,hydrophobic,neutral ASB15 Asb15 ENSG00000146809 ankyrin repeat and SOCS box containing 15 chr7:123207064-123277951 This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0031625;ubiquitin protein ligase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ASB15 https://www.uniprot.org/uniprot/Q8WXK1 http://www.informatics.jax.org/searchtool/Search.do?query=ASB15&submit=Quick%0D%8915ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB15 rs6962756 0.779353 0.7854 0.7785 0.15 2 13 exonic exonic exonic ASB15 ASB15 ENSG00000146809 nonsynonymous SNV nonsynonymous SNV unknown ASB15:NM_080928:exon4:c.C170T:p.P57L,ASB15:NM_001290258:exon6:c.C170T:p.P57L, ASB15:uc003vkv.1:exon5:c.C170T:p.P57L,ASB15:uc003vkw.1:exon4:c.C170T:p.P57L,ASB15:uc003vku.1:exon6:c.C170T:p.P57L, UNKNOWN Het;C>T 780;42|38 Hom;C>T 2674;0|95 N N - 7 123269118 123269118 G C snp nonsynonymous SNV G1070C G357A aliphatic,neutral aliphatic,hydrophobic,neutral ASB15 Asb15 ENSG00000146809 ankyrin repeat and SOCS box containing 15 chr7:123207064-123277951 This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Antigen processing: Ubiquitination & Proteasome degradation GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0031625;ubiquitin protein ligase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/ASB15 https://www.uniprot.org/uniprot/Q8WXK1 http://www.informatics.jax.org/searchtool/Search.do?query=ASB15&submit=Quick%0D%8915ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB15 rs4731112 0.791733 0.7197 0.7411 0.23 3 13 exonic exonic exonic ASB15 ASB15 ENSG00000146809 nonsynonymous SNV nonsynonymous SNV unknown ASB15:NM_080928:exon8:c.G1070C:p.G357A,ASB15:NM_001290258:exon10:c.G1070C:p.G357A, ASB15:uc003vkw.1:exon8:c.G1070C:p.G357A,ASB15:uc003vku.1:exon10:c.G1070C:p.G357A, UNKNOWN Het;G>C 2147;104|100 Hom;G>C 5077;0|176 N N - 7 12406989 12406989 C G snp nonsynonymous SNV G2892C K964N polar,hydrophilic,charged(+) polar,hydrophilic,neutral VWDE Vwde ENSG00000146530 von Willebrand factor D and EGF domains chr7:12370511-12443567 Prostatic Neoplasms; Tobacco Use Disorder; Hemoglobin A, Glycosylated; Waist-Hip Ratio GO:0005576;extracellular region;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/VWDE https://www.uniprot.org/uniprot/Q8N2E2 http://www.informatics.jax.org/searchtool/Search.do?query=VWDE&submit=Quick%0D%8891ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VWDE rs6460939 0.521765 0.4943 0.5387 0.46 6 13 exonic exonic exonic VWDE VWDE ENSG00000146530 nonsynonymous SNV nonsynonymous SNV unknown VWDE:NM_001135924:exon13:c.G2892C:p.K964N, VWDE:uc011jxm.1:exon10:c.G1254C:p.K418N,VWDE:uc003ssj.2:exon13:c.G2892C:p.K964N, UNKNOWN Het;C>G 83;21|8 Hom;C>G 1376;0|51 N N - 7 128292036 128292036 G C snp nonsynonymous SNV G797C R266P polar,hydrophilic,charged(+) hydrophobic,neutral FLJ45340 rs62481923 0.48742 0 0.4274 1 0 0 ncRNA_exonic exonic ncRNA_exonic LINC01000 FLJ45340 ENSG00000243302 Na nonsynonymous SNV Na Na FLJ45340:uc010lll.2:exon5:c.G797C:p.R266P, Na Het;G>C 2172;117|101 Hom;G>C 6445;1|225 N N - 7 134678253 134678253 T A snp nonsynonymous SNV T134A F45Y aromatic,hydrophobic,neutral aromatic,polar,hydrophobic AGBL3 Agbl3 ENSG00000146856 ATP/GTP binding protein like 3 chr7:134671259-134832715 Attention Deficit Disorder with Hyperactivity; Varicose Veins; Tobacco Use Disorder Homozygous mice for a targeted allele are viable and fertile. Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. Carboxyterminal post-translational modifications of tubulin GO:0006508;proteolysis;IEA|GO:0035610;protein side chain deglutamylation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;IDA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AGBL3 https://www.uniprot.org/uniprot/Q8NEM8 https://www.ncbi.nlm.nih.gov/omim/?term=617346 http://www.informatics.jax.org/searchtool/Search.do?query=AGBL3&submit=Quick%0D%8923ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AGBL3 rs2348049 0.229233 0 0.2757 0.08 1 13 exonic exonic exonic AGBL3 AGBL3 ENSG00000146856 nonsynonymous SNV nonsynonymous SNV unknown AGBL3:NM_178563:exon4:c.T134A:p.F45Y, AGBL3:uc011kpw.2:exon4:c.T134A:p.F45Y, UNKNOWN Het;T>A 1017;59|50 Hom;T>A 2514;0|94 N N - 7 137600690 137600690 C T snp nonsynonymous SNV G388A V130I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CREB3L2 Creb3l2 ENSG00000182158 cAMP responsive element binding protein 3 like 2 chr7:137559725-137686813 This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Tobacco Use Disorder; Stroke; bronchodilator response Mice homozygous for a knock-out allele exhibit severe chondrodysplasia and die shortly after first birth from suffocation. CREB3 factors activate genes GO:0002062;chondrocyte differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0006986;response to unfolded protein;IEA|GO:0007275;multicellular organism development;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0034976;response to endoplasmic reticulum stress;IEP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051216;cartilage development;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0035497;cAMP response element binding;IMP|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/CREB3L2 https://www.ncbi.nlm.nih.gov/omim/?term=608834 http://www.informatics.jax.org/searchtool/Search.do?query=CREB3L2&submit=Quick%0D%14730ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CREB3L2 rs273957 0.804313 0.7151 0.6893 0.15 2 13 exonic exonic exonic CREB3L2 CREB3L2 ENSG00000182158 nonsynonymous SNV nonsynonymous SNV unknown CREB3L2:NM_001253775:exon3:c.G388A:p.V130I,CREB3L2:NM_194071:exon3:c.G388A:p.V130I, CREB3L2:uc003vtw.3:exon3:c.G388A:p.V130I,CREB3L2:uc003vty.4:exon3:c.G388A:p.V130I,CREB3L2:uc003vtx.2:exon3:c.G388A:p.V130I,CREB3L2:uc031szf.1:exon4:c.G199A:p.V67I,CREB3L2:uc003vtv.3:exon3:c.G199A:p.V67I, UNKNOWN Het;C>T 2173;90|105 Hom;C>T 4244;0|158 N N - 7 138455988 138455988 A G snp nonsynonymous SNV T5C V2A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ATP6V0A4 Atp6v0a4 ENSG00000105929 ATPase H+ transporting V0 subunit a4 chr7:138391040-138484305 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008] Macular Degeneration; Anemia, Sickle Cell; Tobacco Use Disorder; Fibrinogen; Diabetes Mellitus Mice homozygous for a null mutation display postnatal or premature lethality, hyperchloremic hypokalemic acidosis with hypocitraturia, inner ear defects, impaired hearing, and impaired olfaction. Ion channel transport GO:0001503;ossification;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006885;regulation of pH;IMP|GO:0007035;vacuolar acidification;IBA|GO:0007588;excretion;IMP|GO:0007605;sensory perception of sound;IMP|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015986;ATP synthesis coupled proton transport;IBA|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;IMP|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IBA|GO:0090383;phagosome acidification;TAS GO:0000220;vacuolar proton-transporting V-type ATPase, V0 domain;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;ISS|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0016471;vacuolar proton-transporting V-type ATPase complex;IDA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031526;brush border membrane;IDA|GO:0033179;proton-transporting V-type ATPase, V0 domain;IEA|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0015078;hydrogen ion transmembrane transporter activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IBA|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ATP6V0A4 https://www.uniprot.org/uniprot/Q9HBG4 https://hpo.jax.org/app/browse/search?q=ATP6V0A4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605239 http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V0A4&submit=Quick%0D%3415ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V0A4 rs10258719 0.679513 0.7322 0.7040 0.15 2 13 exonic exonic exonic ATP6V0A4 ATP6V0A4 ENSG00000105929 nonsynonymous SNV nonsynonymous SNV unknown ATP6V0A4:NM_130840:exon2:c.T5C:p.V2A,ATP6V0A4:NM_130841:exon2:c.T5C:p.V2A,ATP6V0A4:NM_020632:exon3:c.T5C:p.V2A, ATP6V0A4:uc003vuf.3:exon2:c.T5C:p.V2A,ATP6V0A4:uc003vuh.3:exon2:c.T5C:p.V2A,ATP6V0A4:uc003vug.3:exon3:c.T5C:p.V2A, UNKNOWN Het;A>G 483;32|23 Hom;A>G 1308;0|43 N N - 7 143175345 143175345 C T snp nonsynonymous SNV C380T P127L hydrophobic,neutral aliphatic,hydrophobic,neutral TAS2R41 Tas2r126 ENSG00000221855 taste 2 receptor member 41 chr7:143174966-143175889 Class C/3 (Metabotropic glutamate/pheromone receptors) GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0050896;response to stimulus;IEA|GO:0050909;sensory perception of taste;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TAS2R41 https://www.ncbi.nlm.nih.gov/omim/?term=613965 http://www.informatics.jax.org/searchtool/Search.do?query=TAS2R41&submit=Quick%0D%18407ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TAS2R41 rs10278721 0.211262 0.2049 0.2621 0.17 2 12 exonic exonic exonic TAS2R41 TAS2R41 ENSG00000221855 nonsynonymous SNV nonsynonymous SNV unknown TAS2R41:NM_176883:exon1:c.C380T:p.P127L, TAS2R41:uc003wdc.1:exon1:c.C380T:p.P127L, UNKNOWN Het;C>T 1428;52|60 Hom;C>T 2754;1|94 N N - 7 14775821 14775822 TG T indel splicing DGKB Dgkb ENSG00000136267 diacylglycerol kinase beta chr7:14184674-15014402 Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 diabetes; Bone Density; Myocardial Infarction; Echocardiography; Hemoglobins; Forced Expiratory Volume; Tobacco Use Disorder; glucose-stimulated beta cell function; response to treatment for acute lymphoblastic leukemia; Narcolepsy; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; fasting glucose-related traits ; Erythrocyte Count Mice homozygous for a transposon distruption have defects in long term potentiation, synapase morphology, and in spatial reference and working memory. Effects of PIP2 hydrolysis GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0030168;platelet activation;TAS|GO:0035556;intracellular signal transduction;IEA|GO:0046486;glycerolipid metabolic process;IDA|GO:0046834;lipid phosphorylation;IDA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS GO:0000166;nucleotide binding;IEA|GO:0003951;NAD+ kinase activity;IEA|GO:0004143;diacylglycerol kinase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DGKB https://www.uniprot.org/uniprot/Q9Y6T7 https://www.ncbi.nlm.nih.gov/omim/?term=604070 http://www.informatics.jax.org/searchtool/Search.do?query=DGKB&submit=Quick%0D%7320ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DGKB rs139628753 0.558307 0.6623 0.6914 1 0 0 splicing splicing splicing DGKB DGKB ENSG00000136267 Na Na Na Na Na Na Het;-G 919;35|27 Hom;-G 1994;0|48 N N - 7 149152770 149152770 A G snp nonsynonymous SNV T344C V115A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ZNF777 Zfp777 ENSG00000196453 zinc finger protein 777 chr7:149128454-149158214 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF777 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF777&submit=Quick%0D%16368ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF777 rs3735319 0.661142 0.5693 0.6067 0.15 2 13 exonic exonic exonic ZNF777 ZNF777 ENSG00000196453 nonsynonymous SNV nonsynonymous SNV unknown ZNF777:NM_015694:exon2:c.T344C:p.V115A, ZNF777:uc003wfv.3:exon2:c.T344C:p.V115A, UNKNOWN Het;A>G 1234;74|56 Hom;A>G 4053;0|148 N N - 7 149152906 149152906 G A snp nonsynonymous SNV C208T R70W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral ZNF777 Zfp777 ENSG00000196453 zinc finger protein 777 chr7:149128454-149158214 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF777 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF777&submit=Quick%0D%16368ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF777 rs3735318 0.604832 0.5083 0.5774 0.23 3 13 exonic exonic exonic ZNF777 ZNF777 ENSG00000196453 nonsynonymous SNV nonsynonymous SNV unknown ZNF777:NM_015694:exon2:c.C208T:p.R70W, ZNF777:uc003wfv.3:exon2:c.C208T:p.R70W, UNKNOWN Het;G>A 2544;102|120 Hom;G>A 4727;0|167 N N - 7 1586653 1586653 A AGCC indel nonframeshift substitution 1114_1114delinsGGCT TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs112463195 0 0.0015 0.5494 1 0 0 exonic exonic exonic TMEM184A TMEM184A ENSG00000164855 nonframeshift substitution nonframeshift substitution unknown TMEM184A:NM_001097620:exon9:c.1177_1177delinsGGCT, TMEM184A:uc003skt.4:exon6:c.1114_1114delinsGGCT,TMEM184A:uc021zyr.1:exon7:c.592_592delinsGGCT,TMEM184A:uc003skv.4:exon9:c.1177_1177delinsGGCT, UNKNOWN Het;+GCC 1591;37|39 Hom;+GCC 1843;3|72 N N - 7 1586662 1586662 T C snp nonsynonymous SNV A1168G S390G polar,hydrophilic,neutral aliphatic,neutral TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs3779607 0.626997 0.5394 0.6027 0.08 1 12 exonic exonic exonic TMEM184A TMEM184A ENSG00000164855 nonsynonymous SNV nonsynonymous SNV unknown TMEM184A:NM_001097620:exon9:c.A1168G:p.S390G, TMEM184A:uc003skt.4:exon6:c.A1105G:p.S369G,TMEM184A:uc021zyr.1:exon7:c.A583G:p.S195G,TMEM184A:uc003skv.4:exon9:c.A1168G:p.S390G, UNKNOWN Het;T>C 1618;38|44 Hom;T>C 3758;1|93 N N - 7 158672619 158672619 A G snp nonsynonymous SNV A818G Q273R polar,hydrophilic,neutral polar,hydrophilic,charged(+) WDR60 Wdr60 ENSG00000126870 WD repeat domain 60 chr7:158649269-158749438 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014] Body Height; height; Body Weight; Waist Circumference Intraflagellar transport GO:0030030;cell projection organization;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0048704;embryonic skeletal system morphogenesis;IMP|GO:0060271;cilium assembly;IGI GO:0000242;pericentriolar material;IDA|GO:0000922;spindle pole;IDA|GO:0005615;extracellular space;IDA|GO:0005813;centrosome;IDA|GO:0005868;cytoplasmic dynein complex;IDA|GO:0005929;cilium;TAS|GO:0031021;interphase microtubule organizing center;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IDA GO:0005515;protein binding;IPI|GO:0045503;dynein light chain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/WDR60 https://www.uniprot.org/uniprot/Q8WVS4 https://hpo.jax.org/app/browse/search?q=WDR60&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615462 http://www.informatics.jax.org/searchtool/Search.do?query=WDR60&submit=Quick%0D%5986ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR60 rs2788478 0.573682 0.4570 0.4410 0.08 1 13 exonic exonic exonic WDR60 WDR60 ENSG00000126870 nonsynonymous SNV nonsynonymous SNV unknown WDR60:NM_018051:exon5:c.A818G:p.Q273R, WDR60:uc003woe.4:exon5:c.A818G:p.Q273R, UNKNOWN Het;A>G 1179;112|64 Hom;A>G 4432;0|161 N N - 7 1588391 1588391 A G snp nonsynonymous SNV T515C V172A aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral TMEM184A Tmem184a ENSG00000164855 transmembrane protein 184A chr7:1581871-1600457 GO:0006810;transport;IBA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030667;secretory granule membrane;ISS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IBA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IBA|GO:0008201;heparin binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/TMEM184A http://www.informatics.jax.org/searchtool/Search.do?query=TMEM184A&submit=Quick%0D%11406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM184A rs3814481 0.67472 0 0.6586 1 0 0 intronic exonic intronic TMEM184A TMEM184A ENSG00000164855 Na nonsynonymous SNV Na Na TMEM184A:uc003skt.4:exon4:c.T515C:p.V172A, Na Het;A>G 755;21|28 Hom;A>G 1301;0|45 N N - 7 23794029 23794029 G A snp nonsynonymous SNV G1160A G387E aliphatic,neutral polar,hydrophilic,charged(-) STK31 Stk31 ENSG00000196335 serine/threonine kinase 31 chr7:23749786-23872132 This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Mental Competency; Insulin; Chronic renal failure|Kidney Failure, Chronic; Triglycerides; Tobacco Use Disorder; Monocytes; Heart Rate; Myocardial Infarction Mice homozygous for a null mutation display normal embryonic development and spermatogenesis. GO:0006401;RNA catabolic process;IBA|GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0004518;nuclease activity;IBA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/STK31 https://www.ncbi.nlm.nih.gov/omim/?term=605790 http://www.informatics.jax.org/searchtool/Search.do?query=STK31&submit=Quick%0D%16322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK31 rs4722266 0.21885 0.1612 0.1909 0.15 2 13 exonic exonic exonic STK31 STK31 ENSG00000196335 nonsynonymous SNV nonsynonymous SNV unknown STK31:NM_001260504:exon10:c.G1160A:p.G387E,STK31:NM_001260505:exon10:c.G1229A:p.G410E,STK31:NM_031414:exon10:c.G1229A:p.G410E,STK31:NM_032944:exon10:c.G1160A:p.G387E, STK31:uc003swt.5:exon10:c.G1160A:p.G387E,STK31:uc010kuq.4:exon10:c.G1160A:p.G387E,STK31:uc003sws.5:exon10:c.G1229A:p.G410E,STK31:uc011jze.3:exon10:c.G1229A:p.G410E,STK31:uc031swr.1:exon10:c.G1160A:p.G387E, UNKNOWN Het;G>A 1500;96|79 Hom;G>A 4148;0|155 N N - 7 2644519 2644519 C T snp nonsynonymous SNV C1442T A481V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral IQCE Iqce ENSG00000106012 IQ motif containing E chr7:2598632-2654368 Acquired Immunodeficiency Syndrome|Disease Progression Activation of SMO GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IQCE https://www.uniprot.org/uniprot/Q6IPM2 https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE rs2293404 0.411741 0.3016 0.3445 0.38 5 13 exonic exonic exonic IQCE IQCE ENSG00000106012 nonsynonymous SNV nonsynonymous SNV unknown IQCE:NM_001287502:exon17:c.C1442T:p.A481V,IQCE:NM_001287500:exon18:c.C1589T:p.A530V,IQCE:NM_001287499:exon19:c.C1637T:p.A546V,IQCE:NM_001287501:exon17:c.C1442T:p.A481V,IQCE:NM_152558:exon19:c.C1637T:p.A546V, IQCE:uc003sml.1:exon19:c.C1637T:p.A546V,IQCE:uc003smk.4:exon18:c.C1589T:p.A530V,IQCE:uc011jvz.1:exon17:c.C1442T:p.A481V,IQCE:uc011jvy.1:exon18:c.C1589T:p.A530V,IQCE:uc003smn.4:exon17:c.C1442T:p.A481V,IQCE:uc003smo.4:exon19:c.C1637T:p.A546V, UNKNOWN Het;C>T 1032;57|56 Hom;C>T 2578;0|103 N N - 7 2649704 2649704 T G snp nonsynonymous SNV T1801G L601V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral IQCE Iqce ENSG00000106012 IQ motif containing E chr7:2598632-2654368 Acquired Immunodeficiency Syndrome|Disease Progression Activation of SMO GO:0005739;mitochondrion;IEA|GO:0005929;cilium;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/IQCE https://www.uniprot.org/uniprot/Q6IPM2 https://hpo.jax.org/app/browse/search?q=IQCE&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=IQCE&submit=Quick%0D%3436ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCE rs3735109 0 0.3820 0.4557 0.08 1 13 exonic exonic exonic IQCE IQCE ENSG00000106012 nonsynonymous SNV nonsynonymous SNV unknown IQCE:NM_001287501:exon20:c.T1801G:p.L601V,IQCE:NM_152558:exon22:c.T1996G:p.L666V, IQCE:uc003smk.4:exon21:c.T1948G:p.L650V,IQCE:uc003smn.4:exon20:c.T1801G:p.L601V,IQCE:uc003smo.4:exon22:c.T1996G:p.L666V, UNKNOWN Het;T>G 901;89|48 Hom;T>G 3211;0|121 N N - 7 27135314 27135314 C T snp nonsynonymous SNV G218A R73H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) HOXA1 Hoxa1 ENSG00000105991 homeobox A1 chr7:27132612-27135615 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008] several psychiatric disorders; cerebellar volume; head growth; neurodevelopmental psychiatric disorders; autism; Autism Homozygotes for targeted null mutations die perinatally and exhibit altered and missing rhombomeric structures associated with abnormalities of cranial nerves and ganglia, defects in the skull, and both outer and inner ears, and anoxia at birth. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;TAS|GO:0007605;sensory perception of sound;IDA|GO:0007634;optokinetic behavior;IDA|GO:0009653;anatomical structure morphogenesis;IMP|GO:0021599;abducens nerve formation;IMP|GO:0042473;outer ear morphogenesis;IDA|GO:0048702;embryonic neurocranium morphogenesis;IMP|GO:0048839;inner ear development;IMP|GO:0048844;artery morphogenesis;IMP|GO:0050795;regulation of behavior;IDA|GO:0050890;cognition;IDA|GO:0050905;neuromuscular process;IDA|GO:0060840;artery development;IMP|GO:0060876;semicircular canal formation;IMP|GO:0090102;cochlea development;IMP|GO:0090103;cochlea morphogenesis;IMP GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HOXA1 https://www.uniprot.org/uniprot/P49639 https://hpo.jax.org/app/browse/search?q=HOXA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=142955 http://www.informatics.jax.org/searchtool/Search.do?query=HOXA1&submit=Quick%0D%3428ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOXA1 rs10951154 0.780751 0.7304 0.7660 0.08 1 12 exonic exonic exonic HOXA1 HOXA1 ENSG00000105991 nonsynonymous SNV nonsynonymous SNV unknown HOXA1:NM_005522:exon1:c.G218A:p.R73H,HOXA1:NM_153620:exon1:c.G218A:p.R73H, HOXA1:uc022aao.1:exon1:c.G218A:p.R73H,HOXA1:uc003syd.3:exon1:c.G218A:p.R73H,HOXA1:uc003sye.3:exon1:c.G218A:p.R73H, UNKNOWN Het;C>T 2305;8|101 Hom;C>T 1854;2|76 N N - 7 32961023 32961023 A G snp nonsynonymous SNV T178C W60R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) RP9P rs2893440 0.691693 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic RP9P RP9P ENSG00000205763 Na nonsynonymous SNV Na Na RP9P:uc011kaj.3:exon3:c.T178C:p.W60R, Na Het;A>G 461;44|28 Hom;A>G 1909;0|73 N N - 7 36447349 36447349 A ACTT indel nonframeshift substitution 616_616delinsACTT ANLN Anln ENSG00000011426 anillin actin binding protein chr7:36429415-36493400 This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] Waist-Hip Ratio; Eosinophils; Body Mass Index GO:0000281;mitotic cytokinesis;IDA|GO:0000921;septin ring assembly;TAS|GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0007049;cell cycle;IEA|GO:0007096;regulation of exit from mitosis;TAS|GO:0051301;cell division;IEA|GO:0090521;glomerular visceral epithelial cell migration;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005826;actomyosin contractile ring;IDA|GO:0005856;cytoskeleton;IEA|GO:0005938;cell cortex;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ANLN https://www.uniprot.org/uniprot/Q9NQW6 https://hpo.jax.org/app/browse/search?q=ANLN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616027 http://www.informatics.jax.org/searchtool/Search.do?query=ANLN&submit=Quick%0D%559ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANLN rs143969069 0.449481 0.3839 0.4258 1 0 0 exonic exonic exonic ANLN ANLN ENSG00000011426 nonframeshift substitution nonframeshift substitution unknown ANLN:NM_001284302:exon5:c.880_880delinsACTT,ANLN:NM_001284301:exon5:c.880_880delinsACTT,ANLN:NM_018685:exon5:c.880_880delinsACTT, ANLN:uc011kaz.2:exon5:c.616_616delinsACTT,ANLN:uc010kxe.3:exon5:c.880_880delinsACTT,ANLN:uc003tfg.3:exon5:c.880_880delinsACTT,ANLN:uc003tff.3:exon5:c.880_880delinsACTT, UNKNOWN Het;+CTT 997;22|26 Hom;+CTT 1947;0|43 N N - 7 36763672 36763672 C T snp nonsynonymous SNV G82A D28N polar,hydrophilic,charged(-) polar,hydrophilic,neutral AOAH Aoah ENSG00000136250 acyloxyacyl hydrolase chr7:36552456-36764154 This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010] HIV-1; Tobacco Use Disorder; Blood Pressure; asthma; Hypertension; Parkinson Disease Homozygous null mice have a reduced ability to deacylate bacterial lipopolysaccharides. GO:0006629;lipid metabolic process;TAS|GO:0006954;inflammatory response;TAS|GO:0008653;lipopolysaccharide metabolic process;IEA|GO:0050728;negative regulation of inflammatory response;IEA GO:0005576;extracellular region;IEA GO:0003824;catalytic activity;TAS|GO:0004465;lipoprotein lipase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA|GO:0050528;acyloxyacyl hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/AOAH https://www.uniprot.org/uniprot/P28039 https://www.ncbi.nlm.nih.gov/omim/?term=102593 http://www.informatics.jax.org/searchtool/Search.do?query=AOAH&submit=Quick%0D%7318ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AOAH rs2228410 0.351038 0.2670 0.3714 0.08 1 12 exonic exonic exonic AOAH AOAH ENSG00000136250 nonsynonymous SNV nonsynonymous SNV unknown AOAH:NM_001177507:exon1:c.G82A:p.D28N,AOAH:NM_001637:exon1:c.G82A:p.D28N, AOAH:uc011kba.2:exon1:c.G82A:p.D28N,AOAH:uc003tfh.4:exon1:c.G82A:p.D28N,AOAH:uc022abu.1:exon1:c.G82A:p.D28N, UNKNOWN Het;C>T 1000;50|48 Hom;C>T 3010;0|118 N N - 7 48318811 48318811 C T snp nonsynonymous SNV C8020T R2674W polar,hydrophilic,charged(+) aromatic,hydrophobic,neutral ABCA13 Abca13 ENSG00000179869 ATP binding cassette subfamily A member 13 chr7:48211055-48687092 In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] schizophrenia | depression | bipolar disorder; Body Mass Index; Respiratory Function Tests; Tobacco Use Disorder; Body Height; Erythrocyte Count; Iron; Life Expectancy; Metabolism; Autism Neutrophil degranulation GO:0006810;transport;IEA|GO:0006869;lipid transport;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0035577;azurophil granule membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IBA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005524;ATP binding;IEA|GO:0016887;ATPase activity;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA http://www.genecards.org/index.php?path=/Search/keyword/ABCA13 https://www.ncbi.nlm.nih.gov/omim/?term=607807 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA13&submit=Quick%0D%14395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA13 rs2222648 0.852236 0.7742 0.8045 0.08 1 13 exonic exonic exonic ABCA13 ABCA13 ENSG00000179869 nonsynonymous SNV nonsynonymous SNV unknown ABCA13:NM_152701:exon18:c.C8020T:p.R2674W, ABCA13:uc003toq.2:exon18:c.C8020T:p.R2674W,ABCA13:uc031sxh.1:exon1:c.C1063T:p.R355W,ABCA13:uc031sxg.1:exon1:c.C1063T:p.R355W,ABCA13:uc010kys.2:exon1:c.C1063T:p.R355W, UNKNOWN Het;C>T 1651;117|81 Hom;C>T 4686;0|178 N N - 7 51098567 51098570 GTCT G indel nonframeshift substitution 801_804C COBL Cobl ENSG00000106078 cordon-bleu WH2 repeat protein chr7:51083909-51384515 Echocardiography; Potassium; Cholesterol, LDL; Cell Adhesion Molecules; Emphysema; Cholesterol, HDL; Hypertension; Neuroblastoma; Electrocardiography; Glucose; Autism; Alzheimer Disease; Heart Failure; Hippocampus; Celiac Disease|; Tobacco Use Disorder; type 1 diabetes; C-Reactive Protein Animals homozygous for this mutation do not display a phenotype. However, the allele exacerbates the neural tube defects seen in the loop tail mouse. GO:0000578;embryonic axis specification;ISS|GO:0001757;somite specification;ISS|GO:0001843;neural tube closure;ISS|GO:0001889;liver development;ISS|GO:0030041;actin filament polymerization;IBA|GO:0030903;notochord development;ISS|GO:0033504;floor plate development;ISS|GO:0048565;digestive tract development;ISS|GO:0048669;collateral sprouting in absence of injury;ISS|GO:0051639;actin filament network formation;IBA|GO:1900006;positive regulation of dendrite development;ISS|GO:1900029;positive regulation of ruffle assembly;IEA GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;ISS|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030424;axon;ISS|GO:0030425;dendrite;ISS|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0044294;dendritic growth cone;ISS|GO:0044295;axonal growth cone;ISS|GO:0048471;perinuclear region of cytoplasm;ISS GO:0003779;actin binding;IEA|GO:0003785;actin monomer binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/COBL https://www.uniprot.org/uniprot/O75128 https://www.ncbi.nlm.nih.gov/omim/?term=610317 http://www.informatics.jax.org/searchtool/Search.do?query=COBL&submit=Quick%0D%3449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COBL rs142060269 0 0.3417 0.3732 1 0 0 exonic exonic exonic COBL COBL ENSG00000106078 nonframeshift substitution nonframeshift substitution unknown COBL:NM_015198:exon9:c.1443_1446C,COBL:NM_001287436:exon10:c.1614_1617C, COBL:uc003tpp.4:exon8:c.801_804C,COBL:uc003tps.3:exon10:c.1614_1617C,COBL:uc011kcl.2:exon9:c.1443_1446C,COBL:uc003tpr.4:exon9:c.1443_1446C,COBL:uc003tpq.4:exon8:c.1266_1269C,COBL:uc003tpo.4:exon1:c.69_72C, UNKNOWN Het;-TCT 706;46|21 Hom;-TCT 2620;0|61 N N - 7 63679733 63679733 A G snp nonsynonymous SNV A304G S102G polar,hydrophilic,neutral aliphatic,neutral ZNF735 rs10270226 0.672724 0 0.6404 0.00 0 6 exonic exonic ncRNA_exonic ZNF735 ZNF735 ENSG00000223614 nonsynonymous SNV nonsynonymous SNV Na ZNF735:NM_001159524:exon4:c.A304G:p.S102G, ZNF735:uc011kdn.2:exon4:c.A304G:p.S102G, Na Het;A>G 1365;59|64 Hom;A>G 2644;0|94 N N - 7 6656830 6656830 G A snp nonsynonymous SNV G22A G8R aliphatic,neutral polar,hydrophilic,charged(+) ZNF853 Zfp853 ENSG00000236609 zinc finger protein 853 chr7:6655248-6663921 GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF853 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF853&submit=Quick%0D%19431ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF853 rs2243563 0.741214 0.6207 0.7229 0.10 1 10 exonic exonic exonic ZNF853 ZNF853 ENSG00000236609 nonsynonymous SNV nonsynonymous SNV unknown ZNF853:NM_017560:exon2:c.G22A:p.G8R, ZNF853:uc011jwz.2:exon2:c.G22A:p.G8R, UNKNOWN Het;G>A 841;15|38 Hom;G>A 1945;0|74 N N - 7 6656897 6656897 A G snp nonsynonymous SNV A89G Q30R polar,hydrophilic,neutral polar,hydrophilic,charged(+) ZNF853 Zfp853 ENSG00000236609 zinc finger protein 853 chr7:6655248-6663921 GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF853 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF853&submit=Quick%0D%19431ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF853 rs1806552 0.771765 0 0.7241 0.10 1 10 exonic exonic exonic ZNF853 ZNF853 ENSG00000236609 nonsynonymous SNV nonsynonymous SNV unknown ZNF853:NM_017560:exon2:c.A89G:p.Q30R, ZNF853:uc011jwz.2:exon2:c.A89G:p.Q30R, UNKNOWN Het;A>G 1033;37|48 Hom;A>G 2269;0|82 N N - 7 7136077 7136077 C A snp nonsynonymous SNV G215T R72L polar,hydrophilic,charged(+) aliphatic,hydrophobic,neutral LOC100131257 rs17163287 0.664137 0 0.6999 1 0 0 ncRNA_exonic exonic intergenic LOC100131257 LOC100131257 ENSG00000239696(dist=16704),ENSG00000201218(dist=6127) Na nonsynonymous SNV Na Na LOC100131257:uc021zzk.1:exon1:c.G215T:p.R72L, Na Het;C>A 1649;79|72 Hom;C>A 6951;1|162 N N - 7 73969541 73969541 A G snp nonsynonymous SNV A2050G M684V hydrophobic,neutral aliphatic,hydrophobic,neutral GTF2IRD1 Gtf2ird1 ENSG00000006704 GTF2I repeat domain containing 1 chr7:73868120-74016931 The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] Celiac Disease| Homozygotes for one null allele is embryonic lethal with abnormal yolk sac vasulogenesis, abnormal angiogenesis, and neural tube defect. Other null allele homozygous mice are viable and have behavioral defects and exhibit a mild craniofacial defect withvariable penetrance. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0014886;transition between slow and fast fiber;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;IDA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GTF2IRD1 https://www.uniprot.org/uniprot/Q9UHL9 https://hpo.jax.org/app/browse/search?q=GTF2IRD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604318 http://www.informatics.jax.org/searchtool/Search.do?query=GTF2IRD1&submit=Quick%0D%416ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GTF2IRD1 rs2301895 0.414537 0.3729 0.3078 0.08 1 13 exonic exonic exonic GTF2IRD1 GTF2IRD1 ENSG00000006704 nonsynonymous SNV nonsynonymous SNV unknown GTF2IRD1:NM_001199207:exon18:c.A2050G:p.M684V,GTF2IRD1:NM_005685:exon18:c.A1954G:p.M652V,GTF2IRD1:NM_016328:exon18:c.A1954G:p.M652V, GTF2IRD1:uc003uaq.3:exon18:c.A1954G:p.M652V,GTF2IRD1:uc003uap.3:exon18:c.A1954G:p.M652V,GTF2IRD1:uc010lbq.3:exon18:c.A2050G:p.M684V,GTF2IRD1:uc003uar.1:exon18:c.A1954G:p.M652V, UNKNOWN Het;A>G 1101;74|56 Hom;A>G 2661;0|98 N N - 7 74193668 74193668 G A snp nonsynonymous SNV G295A G99S aliphatic,neutral polar,hydrophilic,neutral NCF1 Ncf1 ENSG00000158517 neutrophil cytosolic factor 1 chr7:74188309-74203659 The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008] sarcoidosis tuberculosis; Malaria, Falciparum|Multiple Sclerosis; Granulomatous Disease, Chronic; Stroke; Cerebral Infarction Homozygous disruption of this gene causes severe spontaneous infections and granulomatous inflammation and may alter synaptic plasticity and memory, RAS activation, blood pressure control, airway smooth muscle function, neointima formation, vasoconstriction and the response to myocardial infarction. RHO GTPases Activate NADPH Oxidases GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006612;protein targeting to membrane;IDA|GO:0006801;superoxide metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0006968;cellular defense response;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0034599;cellular response to oxidative stress;TAS|GO:0034614;cellular response to reactive oxygen species;IDA|GO:0042554;superoxide anion generation;TAS|GO:0045087;innate immune response;TAS|GO:0045454;cell redox homeostasis;TAS|GO:0045730;respiratory burst;TAS|GO:0045741;positive regulation of epidermal growth factor-activated receptor activity;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0046330;positive regulation of JNK cascade;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071276;cellular response to cadmium ion;IDA|GO:0071800;podosome assembly;IBA|GO:1900745;positive regulation of p38MAPK cascade;IMP GO:0002102;podosome;IBA|GO:0005737;cytoplasm;IEA|GO:0005791;rough endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0030425;dendrite;IEA|GO:0032010;phagolysosome;TAS|GO:0043020;NADPH oxidase complex;TAS|GO:0043025;neuronal cell body;IEA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0009055;electron carrier activity;TAS|GO:0016175;superoxide-generating NADPH oxidase activity;IMP|GO:0016176;superoxide-generating NADPH oxidase activator activity;IBA|GO:0017124;SH3 domain binding;IPI|GO:0035091;phosphatidylinositol binding;IDA|GO:0043325;phosphatidylinositol-3,4-bisphosphate binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NCF1 https://hpo.jax.org/app/browse/search?q=NCF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608512 http://www.informatics.jax.org/searchtool/Search.do?query=NCF1&submit=Quick%0D%10219ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCF1 rs10614 0.63119 0 0.4984 1 0 0 exonic exonic exonic NCF1 NCF1 ENSG00000158517 nonsynonymous SNV nonsynonymous SNV unknown NCF1:NM_000265:exon4:c.G295A:p.G99S, NCF1:uc010lbs.1:exon4:c.G295A:p.G99S,NCF1:uc003ubb.3:exon4:c.G295A:p.G99S, UNKNOWN Het;G>A 4483;33|184 Hom;G>A 6216;26|255 N N - 7 76131645 76131645 A G snp nonsynonymous SNV A1261G T421A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral DTX2 Dtx2 ENSG00000282379 deltex E3 ubiquitin ligase 2 chr7:76090993-76135312 DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009] Mice homozygous for a knock-out allele are viable and overtly normal with no detectable abnormalities in T or B cell development. GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DTX2 https://www.ncbi.nlm.nih.gov/omim/?term=613141 http://www.informatics.jax.org/searchtool/Search.do?query=DTX2&submit=Quick%0D%22493ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DTX2 rs6979487 0.816094 0 0.7506 0.15 2 13 exonic exonic exonic DTX2 DTX2 ENSG00000091073 nonsynonymous SNV nonsynonymous SNV unknown DTX2:NM_020892:exon9:c.A1261G:p.T421A,DTX2:NM_001102595:exon7:c.A1261G:p.T421A,DTX2:NM_001102594:exon8:c.A1261G:p.T421A,DTX2:NM_001102596:exon5:c.A1120G:p.T374A, DTX2:uc003uff.4:exon9:c.A1261G:p.T421A,DTX2:uc011kgk.1:exon7:c.A988G:p.T330A,DTX2:uc003ufh.4:exon7:c.A1261G:p.T421A,DTX2:uc003ufg.4:exon8:c.A1261G:p.T421A,DTX2:uc003ufm.4:exon2:c.A400G:p.T134A,DTX2:uc003ufj.4:exon5:c.A1120G:p.T374A,DTX2:uc003ufl.1:exon3:c.A247G:p.T83A,DTX2:uc003ufn.4:exon1:c.A16G:p.T6A,DTX2:uc003ufk.4:exon3:c.A154G:p.T52A, UNKNOWN Het;A>G 2697;119|130 Hom;A>G 5452;2|158 N N - 7 87913361 87913361 C T snp nonsynonymous SNV G224A G75D aliphatic,neutral polar,hydrophilic,charged(-) STEAP4 Steap4 ENSG00000127954 STEAP4 metalloreductase chr7:87905744-87936206 The protein encoded by this gene belongs to the STEAP (six transmembrane epithelial antigen of prostate) family, and resides in the golgi apparatus. It functions as a metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+), using NAD(+) as acceptor. Studies in mice and human suggest that this gene maybe involved in adipocyte development and metabolism, and may contribute to the normal biology of the prostate cell, as well as prostate cancer progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011] Metabolic Syndrome X; Insulin Resistance|Metabolic Syndrome X Mice homozygous for a knock-out allele exhibit adipose accumulation, oxidative stress, increased liver weight, lower metabolic rate, hypoactivity, insulin resistance, glucose intolerance, mild hyperglycemia and dyslipidemia. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015677;copper ion import;IEA|GO:0045444;fat cell differentiation;IEA|GO:0055072;iron ion homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098706;ferric iron import across plasma membrane;IEA GO:0000139;Golgi membrane;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0008823;cupric reductase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0052851;ferric-chelate reductase (NADPH) activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/STEAP4 https://www.uniprot.org/uniprot/Q687X5 https://www.ncbi.nlm.nih.gov/omim/?term=611098 http://www.informatics.jax.org/searchtool/Search.do?query=STEAP4&submit=Quick%0D%6086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STEAP4 rs1981529 0.851238 0.8063 0.7779 0.15 2 13 exonic exonic exonic STEAP4 STEAP4 ENSG00000127954 nonsynonymous SNV nonsynonymous SNV unknown STEAP4:NM_001205315:exon3:c.G224A:p.G75D,STEAP4:NM_001205316:exon2:c.G224A:p.G75D,STEAP4:NM_024636:exon2:c.G224A:p.G75D, STEAP4:uc010lek.3:exon2:c.G224A:p.G75D,STEAP4:uc022agz.1:exon3:c.G224A:p.G75D,STEAP4:uc003ujs.3:exon2:c.G224A:p.G75D, UNKNOWN Het;C>T 1132;57|53 Hom;C>T 2912;0|103 N N - 7 89912301 89912301 G A snp nonsynonymous SNV G1468A V490M aliphatic,hydrophobic,neutral hydrophobic,neutral CFAP69 Cfap69 rs1029365 0.884185 0.7953 0.8295 0.15 2 13 exonic exonic exonic CFAP69 C7orf63 ENSG00000105792 nonsynonymous SNV nonsynonymous SNV unknown CFAP69:NM_001039706:exon13:c.G1468A:p.V490M,CFAP69:NM_001160138:exon13:c.G1414A:p.V472M, C7orf63:uc011khk.2:exon2:c.G154A:p.V52M,C7orf63:uc003ukg.2:exon11:c.G493A:p.V165M,C7orf63:uc011khj.2:exon13:c.G1414A:p.V472M,C7orf63:uc010lep.3:exon13:c.G1468A:p.V490M, UNKNOWN Het;G>A 1179;31|50 Hom;G>A 2423;2|92 N N - 7 89983808 89983808 T G snp nonsynonymous SNV T264G C88W polar,hydrophobic,neutral aromatic,hydrophobic,neutral GTPBP10 Gtpbp10 ENSG00000105793 GTP binding protein 10 chr7:89964537-90020769 Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008] GO:0042254;ribosome biogenesis;IEA GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0003723;RNA binding;IDA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GTPBP10 https://www.uniprot.org/uniprot/A4D1E9 https://www.ncbi.nlm.nih.gov/omim/?term=610920 http://www.informatics.jax.org/searchtool/Search.do?query=GTPBP10&submit=Quick%0D%3390ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GTPBP10 rs42663 0.80012 0.7731 0.8097 0.46 6 13 exonic exonic exonic GTPBP10 GTPBP10 ENSG00000105793 nonsynonymous SNV nonsynonymous SNV unknown GTPBP10:NM_033107:exon3:c.T264G:p.C88W, GTPBP10:uc003ukm.2:exon3:c.T264G:p.C88W,GTPBP10:uc003uki.1:exon4:c.T315G:p.C105W,GTPBP10:uc003ukj.1:exon3:c.T237G:p.C79W, UNKNOWN Het;T>G 527;70|33 Hom;T>G 2446;0|92 N N - 7 99306685 99306685 C G snp nonsynonymous SNV G1226C R409T polar,hydrophilic,charged(+) polar,hydrophilic,neutral CYP3A7 Cyp3a13 ENSG00000160870 cytochrome P450 family 3 subfamily A member 7 chr7:99302660-99332819 This gene encodes a member of the cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015] bladder cancer; Polycystic Ovary Syndrome; chronic obstructive pulmonary disease; bone density dehydroepiandrosterone sulfate levels; breast cancer ; bone density dehydroepiandrosterone sulphate osteoporosis; Cleft Lip|Cleft Palate; midazolam; enzyme activity; clozapine; prostate cancer; lung cancer; null; lopinavir accumulation; normal variation; drug-related genes ; cyclosporine; lung cancer ; Chronic renal failure|Kidney Failure, Chronic; epithelial ovarian cancer Mice homozygous for a knock-out allele show no apparent alterations in hematology, plasma clinical chemistry or pathology. Xenobiotics GO:0002933;lipid hydroxylation;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016712;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA|GO:0101020;estrogen 16-alpha-hydroxylase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/CYP3A7 https://www.ncbi.nlm.nih.gov/omim/?term=605340 http://www.informatics.jax.org/searchtool/Search.do?query=CYP3A7&submit=Quick%0D%10523ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP3A7 rs2257401 0.669529 0.7640 0.8133 1 0 0 exonic exonic exonic CYP3A7,CYP3A7-CYP3A51P CYP3A7,CYP3A7-CYP3AP1 ENSG00000160870 nonsynonymous SNV nonsynonymous SNV unknown CYP3A7-CYP3A51P:NM_001256497:exon11:c.G1226C:p.R409T,CYP3A7:NM_000765:exon11:c.G1226C:p.R409T, CYP3A7-CYP3AP1:uc031syj.1:exon11:c.G1226C:p.R409T,CYP3A7:uc003uru.3:exon11:c.G1226C:p.R409T, UNKNOWN Het;C>G 900;67|40 Hom;C>G 2883;0|97 N N - 7 99817859 99817859 A G snp nonsynonymous SNV A241G N81D polar,hydrophilic,neutral polar,hydrophilic,charged(-) PVRIG Pvrig ENSG00000213413 poliovirus receptor related immunoglobulin domain containing chr7:99815864-99819113 GO:0050860;negative regulation of T cell receptor signaling pathway;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PVRIG https://www.ncbi.nlm.nih.gov/omim/?term=617012 http://www.informatics.jax.org/searchtool/Search.do?query=PVRIG&submit=Quick%0D%18123ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PVRIG rs2906645 0.657548 0.7620 0.7468 0.08 1 12 exonic exonic exonic PVRIG PVRIG ENSG00000213413 nonsynonymous SNV nonsynonymous SNV unknown PVRIG:NM_024070:exon3:c.A241G:p.N81D, PVRIG:uc003uue.2:exon4:c.A241G:p.N81D,PVRIG:uc003uuf.1:exon3:c.A241G:p.N81D, UNKNOWN Het;A>G 2570;109|108 Hom;A>G 4981;0|171 N N - 8 104934028 104934028 G A snp nonsynonymous SNV G385A V129I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral RIMS2 Rims2 ENSG00000176406 regulating synaptic membrane exocytosis 2 chr8:104512976-105268322 Cholesterol, LDL; Tobacco Use Disorder; Glucose; Forced Expiratory Volume; smoking cessation; Heroin Dependence; Forced Vital Capacity Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death. GO:0006886;intracellular protein transport;IEA|GO:0010628;positive regulation of gene expression;ISS|GO:0017156;calcium ion regulated exocytosis;ISS|GO:0017157;regulation of exocytosis;ISS|GO:0019933;cAMP-mediated signaling;ISS|GO:0030073;insulin secretion;ISS|GO:0030154;cell differentiation;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0061669;spontaneous neurotransmitter secretion;ISS|GO:0097151;positive regulation of inhibitory postsynaptic potential;ISS|GO:1903861;positive regulation of dendrite extension;IDA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042734;presynaptic membrane;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IEA|GO:0044325;ion channel binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RIMS2 https://www.ncbi.nlm.nih.gov/omim/?term=606630 http://www.informatics.jax.org/searchtool/Search.do?query=RIMS2&submit=Quick%0D%13854ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS2 rs6468897 0.571685 0.6993 0.6366 1 0 0 intronic exonic intronic RIMS2 RIMS2 ENSG00000176406 Na nonsynonymous SNV Na Na RIMS2:uc003ylv.1:exon4:c.G385A:p.V129I, Na Het;G>A 588;26|28 Hom;G>A 1562;0|57 N N - 8 106813518 106813518 C G snp nonsynonymous SNV C1208G A403G aliphatic,hydrophobic,neutral aliphatic,neutral ZFPM2 Zfpm2 ENSG00000169946 zinc finger protein, FOG family member 2 chr8:106330920-106816760 The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008] Mental Competency; heart anomalies, congenital; Platelet Count; Aorta; Vascular Endothelial Growth Factor A; Heart Rate; Hip; Tobacco Use Disorder; Body Weights and Measures; Socioeconomic Factors; Erythrocyte Indices Homozygotes for targeted null mutations exhibit cardiac defects, including absence of coronary vasculature, resulting in lethality between E12.5 and E15.5. Conditional mutations reveal errors in ovary and testis development. Factors involved in megakaryocyte development and platelet production GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003148;outflow tract septum morphogenesis;IMP|GO:0003221;right ventricular cardiac muscle tissue morphogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007506;gonadal mesoderm development;IEA|GO:0007507;heart development;IEA|GO:0007596;blood coagulation;TAS|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0045599;negative regulation of fat cell differentiation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060412;ventricular septum morphogenesis;IMP|GO:0060548;negative regulation of cell death;IEA|GO:2000020;positive regulation of male gonad development;IEA|GO:2000195;negative regulation of female gonad development;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0001085;RNA polymerase II transcription factor binding;IBA|GO:0001105;RNA polymerase II transcription coactivator activity;NAS|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFPM2 https://hpo.jax.org/app/browse/search?q=ZFPM2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603693 http://www.informatics.jax.org/searchtool/Search.do?query=ZFPM2&submit=Quick%0D%12601ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFPM2 rs11993776 0.193291 0.1790 0.1146 0.23 3 13 exonic exonic exonic ZFPM2 ZFPM2 ENSG00000169946 nonsynonymous SNV nonsynonymous SNV unknown ZFPM2:NM_012082:exon8:c.C1208G:p.A403G, ZFPM2:uc011lhs.2:exon6:c.C401G:p.A134G,ZFPM2:uc003ymd.3:exon8:c.C1208G:p.A403G, UNKNOWN Het;C>G 1729;73|75 Hom;C>G 4086;0|139 N N - 8 124696867 124696867 C T snp nonsynonymous SNV G814A V272I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral ANXA13 Anxa13 ENSG00000104537 annexin A13 chr8:124693034-124749647 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Stroke; Pancreatic Neoplasms; smoking cessation; Prostatic Neoplasms GO:0030154;cell differentiation;NAS GO:0005615;extracellular space;IDA|GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0005544;calcium-dependent phospholipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANXA13 https://www.uniprot.org/uniprot/P27216 https://www.ncbi.nlm.nih.gov/omim/?term=602573 http://www.informatics.jax.org/searchtool/Search.do?query=ANXA13&submit=Quick%0D%3138ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANXA13 rs2294015 0.696086 0.6821 0.6241 0.08 1 13 exonic exonic exonic ANXA13 ANXA13 ENSG00000104537 nonsynonymous SNV nonsynonymous SNV unknown ANXA13:NM_004306:exon10:c.G814A:p.V272I,ANXA13:NM_001003954:exon11:c.G937A:p.V313I, ANXA13:uc003yqt.3:exon11:c.G937A:p.V313I,ANXA13:uc003yqu.3:exon10:c.G814A:p.V272I, UNKNOWN Het;C>T 261;40|18 Hom;C>T 1074;1|41 N N - 8 133637659 133637659 G A snp nonsynonymous SNV C695T T232I polar,hydrophilic,neutral aliphatic,hydrophobic,neutral LRRC6 Lrrc6 ENSG00000129295 leucine rich repeat containing 6 chr8:133584320-133687838 The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016] Primary ciliary diskinesia Mice homozygous for a knock-out allele exhibit partial prenatal lethality, variable laterality defects, hydrocephaly, loss of motility in various motile cilia, absence of outer dynein arms in tracheal cilia, and premature death. GO:0003341;cilium movement;IMP|GO:0008584;male gonad development;ISS|GO:0030317;flagellated sperm motility;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0036159;inner dynein arm assembly;IMP|GO:0044458;motile cilium assembly;IMP|GO:0060287;epithelial cilium movement involved in determination of left/right asymmetry;IMP|GO:0061458;reproductive system development;IMP|GO:0003341;cilium movement;IMP|GO:0008584;male gonad development;ISS|GO:0030317;flagellated sperm motility;IMP|GO:0036158;outer dynein arm assembly;IMP|GO:0036159;inner dynein arm assembly;IMP|GO:0044458;motile cilium assembly;IMP|GO:0060287;epithelial cilium movement involved in determination of left/right asymmetry;IMP|GO:0061458;reproductive system development;IMP GO:0005737;cytoplasm;IDA|GO:0005929;cilium;IDA|GO:0042995;cell projection;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LRRC6 https://www.uniprot.org/uniprot/Q86X45 https://hpo.jax.org/app/browse/search?q=LRRC6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614930 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC6&submit=Quick%0D%266ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC6 rs2293979 0.486222 0.5582 0.4191 0.08 1 13 exonic exonic exonic LRRC6 LRRC6 ENSG00000129295 nonsynonymous SNV nonsynonymous SNV unknown LRRC6:NM_012472:exon6:c.C695T:p.T232I, LRRC6:uc022bbp.2:exon6:c.C695T:p.T232I,LRRC6:uc003ytk.4:exon6:c.C695T:p.T232I, UNKNOWN Het;G>A 731;59|36 Hom;G>A 2633;0|103 N N - 8 142185580 142185580 G A snp nonsynonymous SNV G1369A G457S aliphatic,neutral polar,hydrophilic,neutral DENND3 Dennd3 ENSG00000105339 DENN domain containing 3 chr8:142127377-142205907 Tobacco Use Disorder RAB GEFs exchange GTP for GDP on RABs GO:0008333;endosome to lysosome transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0061024;membrane organization;TAS GO:0005829;cytosol;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND3 https://www.uniprot.org/uniprot/A2RUS2 https://www.ncbi.nlm.nih.gov/omim/?term=617503 http://www.informatics.jax.org/searchtool/Search.do?query=DENND3&submit=Quick%0D%3277ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND3 rs12675070 0.28135 0.2867 0.2933 1 0 0 intronic exonic intronic DENND3 DENND3 ENSG00000105339 Na nonsynonymous SNV Na Na DENND3:uc003yvz.1:exon6:c.G1369A:p.G457S, Na Het;G>A 751;8|32 Hom;G>A 656;0|23 N N - 8 142367335 142367335 T C snp nonsynonymous SNV A689G H230R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) GPR20 Gpr20 ENSG00000275181 G protein-coupled receptor 20 chr8:142366600-142377367 Diabetes Mellitus, Type 2 G alpha (s) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IBA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GPR20 https://www.ncbi.nlm.nih.gov/omim/?term=601908 http://www.informatics.jax.org/searchtool/Search.do?query=GPR20&submit=Quick%0D%21298ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR20 rs10875472 0.756789 0.8264 0.7942 0.15 2 13 exonic exonic exonic GPR20 GPR20 ENSG00000204882 nonsynonymous SNV nonsynonymous SNV unknown GPR20:NM_005293:exon2:c.A689G:p.H230R, GPR20:uc003ywf.3:exon2:c.A689G:p.H230R,GPR20:uc022bby.1:exon1:c.A689G:p.H230R, UNKNOWN Het;T>C 1692;79|75 Hom;T>C 3544;0|127 N N - 8 142458053 142458053 A G snp splicing 2772+1T>C MROH5 ENSG00000282181 maestro heat like repeat family member 5 chr8:142443929-142517330 Hair Color; Breath Tests; Body Mass Index; Magnesium; Myocardial Infarction http://www.genecards.org/index.php?path=/Search/keyword/MROH5 http://www.informatics.jax.org/searchtool/Search.do?query=MROH5&submit=Quick%0D%22428ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH5 rs6578185 0.346446 0.4082 0.4500 0.00 0 3 exonic splicing exonic MROH5 MROH5(uc003ywi.2:exon22:c.2772+1T>C) ENSG00000226807 unknown Na unknown UNKNOWN Na UNKNOWN Het;A>G 734;23|32 Hom;A>G 1944;0|69 N N - 8 144620183 144620183 T C snp nonsynonymous SNV A1354G S452G polar,hydrophilic,neutral aliphatic,neutral ZC3H3 Zc3h3 ENSG00000282684 zinc finger CCCH-type containing 3 chr8:144519825-144623623 Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension http://www.genecards.org/index.php?path=/Search/keyword/ZC3H3 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H3&submit=Quick%0D%22577ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H3 rs4874147 0.775958 0.7161 0.7479 0.15 2 13 exonic exonic exonic ZC3H3 ZC3H3 ENSG00000014164 nonsynonymous SNV nonsynonymous SNV unknown ZC3H3:NM_015117:exon2:c.A1354G:p.S452G, ZC3H3:uc003yyd.2:exon2:c.A1354G:p.S452G, UNKNOWN Het;T>C 496;33|22 Hom;T>C 916;0|32 N N - 8 144681777 144681777 G T snp nonsynonymous SNV G1704T M568I hydrophobic,neutral aliphatic,hydrophobic,neutral TIGD5 Tigd5 ENSG00000278016 tigger transposable element derived 5 chr8:144680074-144682485 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003674;molecular_function;ND|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TIGD5 http://www.informatics.jax.org/searchtool/Search.do?query=TIGD5&submit=Quick%0D%21945ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIGD5 rs10282929 0.59984 0.6938 0.7448 0.08 1 13 exonic exonic exonic TIGD5 TIGD5 ENSG00000179886 nonsynonymous SNV nonsynonymous SNV unknown TIGD5:NM_032862:exon1:c.G1704T:p.M568I, TIGD5:uc003yyx.2:exon1:c.G1704T:p.M568I, UNKNOWN Het;G>T 1239;46|53 Hom;G>T 2015;1|73 N N - 8 144775871 144775871 C A snp nonsynonymous SNV C287A P96H hydrophobic,neutral aromatic,polar,hydrophilic,charged(+) ZNF707 Zfp707 ENSG00000274352 zinc finger protein 707 chr8:144766622-144796068 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF707 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF707&submit=Quick%0D%21103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF707 rs6987308 0.548323 0.7579 0.7280 0.08 1 12 exonic exonic exonic ZNF707 ZNF707 ENSG00000181135 nonsynonymous SNV nonsynonymous SNV unknown ZNF707:NM_001100598:exon6:c.C287A:p.P96H,ZNF707:NM_001288806:exon6:c.C287A:p.P96H,ZNF707:NM_001288809:exon4:c.C179A:p.P60H,ZNF707:NM_001288807:exon6:c.C68A:p.P23H,ZNF707:NM_173831:exon7:c.C287A:p.P96H,ZNF707:NM_001288805:exon8:c.C287A:p.P96H,ZNF707:NM_001100599:exon5:c.C287A:p.P96H,ZNF707:NM_001288808:exon4:c.C179A:p.P60H, ZNF707:uc003yzh.4:exon3:c.C68A:p.P23H,ZNF707:uc010mfh.3:exon6:c.C287A:p.P96H,ZNF707:uc003yzf.4:exon8:c.C287A:p.P96H,ZNF707:uc003yze.4:exon7:c.C287A:p.P96H,ZNF707:uc010mfi.3:exon5:c.C287A:p.P96H, UNKNOWN Het;C>A 713;38|35 Hom;C>A 1561;2|62 N N - 8 144940779 144940779 G A snp nonsynonymous SNV C6643T R2215C polar,hydrophilic,charged(+) polar,hydrophobic,neutral EPPK1 Eppk1 ENSG00000261150 epiplakin 1 chr8:144939497-144952632 The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013] Mice homozygous for a null allele exhbit normal skin morphology. Mice homozygous for a reporter knock-in allele exhibit enhanced wound healing associated with increased keratinocyte migration. GO:0005856;cytoskeleton;IEA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0008092;cytoskeletal protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPPK1 https://www.ncbi.nlm.nih.gov/omim/?term=607553 http://www.informatics.jax.org/searchtool/Search.do?query=EPPK1&submit=Quick%0D%20399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPPK1 rs11781942 0.0794728 0.1184 0.2392 0.22 2 9 exonic exonic exonic EPPK1 EPPK1 ENSG00000227184 nonsynonymous SNV nonsynonymous SNV unknown EPPK1:NM_031308:exon2:c.C6643T:p.R2215C, EPPK1:uc003zaa.1:exon1:c.C6643T:p.R2215C, UNKNOWN Het;G>A 1345;70|62 Hom;G>A 3543;4|132 N N - 8 145171003 145171003 G C snp nonsynonymous SNV G1115C R372P polar,hydrophilic,charged(+) hydrophobic,neutral KIAA1875 rs4977193 0.900759 0 0.9704 0.09 1 11 ncRNA_exonic exonic exonic KIAA1875 KIAA1875 ENSG00000179698 Na nonsynonymous SNV unknown Na KIAA1875:uc011lkz.1:exon7:c.G1115C:p.R372P, UNKNOWN Het;G>C 483;37|23 Hom;G>C 1331;0|48 N N - 8 145603114 145603114 A C snp nonsynonymous SNV A51C R17S polar,hydrophilic,charged(+) polar,hydrophilic,neutral ADCK5 Adck5 ENSG00000173137 aarF domain containing kinase 5 chr8:145596790-145618457 Acquired Immunodeficiency Syndrome|Disease Progression GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCK5 http://www.informatics.jax.org/searchtool/Search.do?query=ADCK5&submit=Quick%0D%13295ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCK5 rs6599528 0.632388 0.5418 0.5255 1 0 0 exonic exonic exonic ADCK5 ADCK5 ENSG00000173137 nonsynonymous SNV nonsynonymous SNV unknown ADCK5:NM_174922:exon2:c.A51C:p.R17S, ADCK5:uc003zch.3:exon2:c.A51C:p.R17S, UNKNOWN Het;A>C 721;29|36 Hom;A>C 1957;0|72 N N - 8 145617534 145617549 TGGGGGTGCAAGGTGA T indel frameshift substitution 1256_1267T ADCK5 Adck5 ENSG00000173137 aarF domain containing kinase 5 chr8:145596790-145618457 Acquired Immunodeficiency Syndrome|Disease Progression GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADCK5 http://www.informatics.jax.org/searchtool/Search.do?query=ADCK5&submit=Quick%0D%13295ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADCK5 rs148509143 0.626997 0.4210 0.4883 1 0 0 exonic exonic exonic ADCK5 ADCK5 ENSG00000173137 frameshift substitution frameshift substitution unknown ADCK5:NM_174922:exon12:c.1256_1267T, ADCK5:uc003zci.3:exon3:c.23_34T,ADCK5:uc003zch.3:exon12:c.1256_1267T, UNKNOWN Het;-GGGGGTGCAAGGTGA 345;17|11 Hom;-GGGGGTGCAAGGTGA 1056;0|25 N N - 8 145625524 145625526 GCC G indel frameshift substitution 737_739C CPSF1 Cpsf1 ENSG00000071894 cleavage and polyadenylation specific factor 1 chr8:145618444-145634753 Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008] Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CPSF1 https://www.uniprot.org/uniprot/Q10570 https://www.ncbi.nlm.nih.gov/omim/?term=606027 http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1 rs145341443 0 0.0499 0.4402 1 0 0 intronic exonic ncRNA_exonic CPSF1 CPSF1 ENSG00000221802 Na frameshift substitution Na Na CPSF1:uc003zck.1:exon8:c.737_739C, Na Het;-CC 428;4|14 Hom;-CC 1225;1|31 N N - 8 145625538 145625538 C G snp nonsynonymous SNV G725C G242A aliphatic,neutral aliphatic,hydrophobic,neutral CPSF1 Cpsf1 ENSG00000071894 cleavage and polyadenylation specific factor 1 chr8:145618444-145634753 Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008] Processing of Intronless Pre-mRNAs GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006378;mRNA polyadenylation;IMP|GO:0006379;mRNA cleavage;IBA|GO:0006388;tRNA splicing, via endonucleolytic cleavage and ligation;TAS|GO:0006397;mRNA processing;IEA|GO:0006406;mRNA export from nucleus;TAS|GO:0031124;mRNA 3'-end processing;TAS|GO:0098789;pre-mRNA cleavage required for polyadenylation;IC GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005847;mRNA cleavage and polyadenylation specificity factor complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CPSF1 https://www.uniprot.org/uniprot/Q10570 https://www.ncbi.nlm.nih.gov/omim/?term=606027 http://www.informatics.jax.org/searchtool/Search.do?query=CPSF1&submit=Quick%0D%1409ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF1 rs141140965 0 0 0.6866 1 0 0 intronic exonic ncRNA_exonic CPSF1 CPSF1 ENSG00000221802 Na nonsynonymous SNV Na Na CPSF1:uc003zck.1:exon8:c.G725C:p.G242A, Na Het;C>G 465;5|15 Hom;C>G 1452;1|36 N N - 8 68536470 68536470 A G snp nonsynonymous SNV T133C F45L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CPA6 Cpa6 ENSG00000165078 carboxypeptidase A6 chr8:68334360-68658620 The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016] Hip; Body Height; Anticonvulsants; Electrocardiography; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; CD40 Ligand GO:0006508;proteolysis;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;NAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPA6 https://hpo.jax.org/app/browse/search?q=CPA6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609562 http://www.informatics.jax.org/searchtool/Search.do?query=CPA6&submit=Quick%0D%11461ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPA6 rs10957393 0.232228 0.2640 0.2360 0.15 2 13 exonic exonic exonic CPA6 CPA6 ENSG00000165078 nonsynonymous SNV nonsynonymous SNV unknown CPA6:NM_020361:exon2:c.T133C:p.F45L, CPA6:uc003xxq.4:exon2:c.T133C:p.F45L,CPA6:uc003xxs.2:exon2:c.T133C:p.F45L, UNKNOWN Het;A>G 731;29|36 Hom;A>G 1837;0|62 N N - 8 70571313 70571313 G A snp nonsynonymous SNV G599A R200H polar,hydrophilic,charged(+) aromatic,polar,hydrophilic,charged(+) SULF1 Sulf1 ENSG00000137573 sulfatase 1 chr8:70378859-70573150 This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Narcolepsy; Body Height; Tobacco Use Disorder Mice homozygous for a null allele display a slight increase in mortality early in life. GO:0001822;kidney development;ISS|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002063;chondrocyte development;ISS|GO:0003094;glomerular filtration;ISS|GO:0006915;apoptotic process;IEA|GO:0008152;metabolic process;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;ISS|GO:0014846;esophagus smooth muscle contraction;ISS|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030201;heparan sulfate proteoglycan metabolic process;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030513;positive regulation of BMP signaling pathway;IMP|GO:0032836;glomerular basement membrane development;ISS|GO:0035860;glial cell-derived neurotrophic factor receptor signaling pathway;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;IMP|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IDA|GO:0048706;embryonic skeletal system development;ISS|GO:0051216;cartilage development;ISS|GO:0060348;bone development;ISS|GO:0060384;innervation;ISS|GO:0060686;negative regulation of prostatic bud formation;ISS GO:0005615;extracellular space;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005886;plasma membrane;ISS|GO:0009986;cell surface;IDA|GO:0045121;membrane raft;IDA GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0008449;N-acetylglucosamine-6-sulfatase activity;IDA|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SULF1 https://www.uniprot.org/uniprot/Q8IWU6 https://www.ncbi.nlm.nih.gov/omim/?term=610012 http://www.informatics.jax.org/searchtool/Search.do?query=SULF1&submit=Quick%0D%7565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SULF1 rs3802278 0.331669 0 0.2722 1 0 0 UTR3 exonic UTR3 SULF1(NM_015170:c.*543G>A,NM_001128204:c.*543G>A,NM_001128205:c.*543G>A,NM_001128206:c.*543G>A) SULF1 ENSG00000137573(ENST00000260128:c.*543G>A,ENST00000458141:c.*543G>A,ENST00000402687:c.*543G>A,ENST00000419716:c.*543G>A,ENST00000531512:c.*643G>A) Na nonsynonymous SNV Na Na SULF1:uc003xyi.1:exon6:c.G599A:p.R200H,SULF1:uc003xyj.1:exon4:c.G599A:p.R200H, Na Het;G>A 2681;85|122 Hom;G>A 4156;0|152 N N - 8 70571531 70571531 G A snp nonsynonymous SNV G817A A273T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral SULF1 Sulf1 ENSG00000137573 sulfatase 1 chr8:70378859-70573150 This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Narcolepsy; Body Height; Tobacco Use Disorder Mice homozygous for a null allele display a slight increase in mortality early in life. GO:0001822;kidney development;ISS|GO:0001937;negative regulation of endothelial cell proliferation;IDA|GO:0002063;chondrocyte development;ISS|GO:0003094;glomerular filtration;ISS|GO:0006915;apoptotic process;IEA|GO:0008152;metabolic process;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;ISS|GO:0014846;esophagus smooth muscle contraction;ISS|GO:0016525;negative regulation of angiogenesis;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030201;heparan sulfate proteoglycan metabolic process;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030513;positive regulation of BMP signaling pathway;IMP|GO:0032836;glomerular basement membrane development;ISS|GO:0035860;glial cell-derived neurotrophic factor receptor signaling pathway;ISS|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;IMP|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;IDA|GO:0048706;embryonic skeletal system development;ISS|GO:0051216;cartilage development;ISS|GO:0060348;bone development;ISS|GO:0060384;innervation;ISS|GO:0060686;negative regulation of prostatic bud formation;ISS GO:0005615;extracellular space;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005886;plasma membrane;ISS|GO:0009986;cell surface;IDA|GO:0045121;membrane raft;IDA GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0008449;N-acetylglucosamine-6-sulfatase activity;IDA|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SULF1 https://www.uniprot.org/uniprot/Q8IWU6 https://www.ncbi.nlm.nih.gov/omim/?term=610012 http://www.informatics.jax.org/searchtool/Search.do?query=SULF1&submit=Quick%0D%7565ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SULF1 rs6990375 0.3125 0 0.3475 1 0 0 UTR3 exonic UTR3 SULF1(NM_015170:c.*761G>A,NM_001128204:c.*761G>A,NM_001128205:c.*761G>A,NM_001128206:c.*761G>A) SULF1 ENSG00000137573(ENST00000260128:c.*761G>A,ENST00000458141:c.*761G>A,ENST00000402687:c.*761G>A,ENST00000419716:c.*761G>A,ENST00000531512:c.*861G>A) Na nonsynonymous SNV Na Na SULF1:uc003xyi.1:exon6:c.G817A:p.A273T,SULF1:uc003xyj.1:exon4:c.G817A:p.A273T, Na Het;G>A 1723;102|80 Hom;G>A 4722;2|173 N N - 8 73982161 73982161 A G snp nonsynonymous SNV T556C W186R aromatic,hydrophobic,neutral polar,hydrophilic,charged(+) SBSPON Sbspon ENSG00000164764 somatomedin B and thrombospondin type 1 domain containing chr8:73976775-74036323 Lipids; Crohn Disease O-glycosylation of TSR domain-containing proteins GO:0006898;receptor-mediated endocytosis;IEA|GO:0006955;immune response;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA GO:0005044;scavenger receptor activity;IEA|GO:0030247;polysaccharide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBSPON http://www.informatics.jax.org/searchtool/Search.do?query=SBSPON&submit=Quick%0D%11387ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBSPON rs2291219 0.575679 0.7161 0.6370 0.15 2 13 exonic exonic exonic SBSPON SBSPON ENSG00000164764 nonsynonymous SNV nonsynonymous SNV unknown SBSPON:NM_153225:exon4:c.T556C:p.W186R, SBSPON:uc003xzf.3:exon4:c.T556C:p.W186R, UNKNOWN Het;A>G 1105;37|49 Hom;A>G 2992;0|110 N N - 8 74005131 74005131 A G snp nonsynonymous SNV T172C F58L aromatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SBSPON Sbspon ENSG00000164764 somatomedin B and thrombospondin type 1 domain containing chr8:73976775-74036323 Lipids; Crohn Disease O-glycosylation of TSR domain-containing proteins GO:0006898;receptor-mediated endocytosis;IEA|GO:0006955;immune response;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA GO:0005044;scavenger receptor activity;IEA|GO:0030247;polysaccharide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBSPON http://www.informatics.jax.org/searchtool/Search.do?query=SBSPON&submit=Quick%0D%11387ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBSPON rs59331088 0.367212 0.3665 0.2938 0.15 2 13 exonic exonic exonic SBSPON SBSPON ENSG00000164764 nonsynonymous SNV nonsynonymous SNV unknown SBSPON:NM_153225:exon1:c.T172C:p.F58L, SBSPON:uc003xzf.3:exon1:c.T172C:p.F58L, UNKNOWN Het;A>G 556;21|29 Hom;A>G 881;0|35 N N - 8 87076520 87076520 C A snp nonsynonymous SNV G526T A176S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral PSKH2 ENSG00000147613 protein serine kinase H2 chr8:87060602-87100850 Chronic renal failure|Kidney Failure, Chronic GO:0006468;protein phosphorylation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IBA GO:0005622;intracellular;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSKH2 https://www.uniprot.org/uniprot/Q96QS6 http://www.informatics.jax.org/searchtool/Search.do?query=PSKH2&submit=Quick%0D%9029ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSKH2 rs6998760 0.295727 0.2785 0.3447 0.17 2 12 exonic exonic exonic PSKH2 PSKH2 ENSG00000147613 nonsynonymous SNV nonsynonymous SNV unknown PSKH2:NM_033126:exon2:c.G526T:p.A176S, PSKH2:uc011lfy.2:exon2:c.G526T:p.A176S, UNKNOWN Het;C>A 1456;103|71 Hom;C>A 4993;2|180 N N - 8 94146656 94146656 G T snp nonsynonymous SNV C173A A58E aliphatic,hydrophobic,neutral polar,hydrophilic,charged(-) C8orf87 rs13267247 0.231629 0 0.2670 1 0 0 exonic exonic exonic C8orf87 C8orf87 ENSG00000254318 nonsynonymous SNV nonsynonymous SNV unknown C8orf87:NM_001242668:exon3:c.C173A:p.A58E, C8orf87:uc003yft.1:exon3:c.C173A:p.A58E, UNKNOWN Het;G>T 990;63|50 Hom;G>T 2512;0|91 N N - 8 95143172 95143172 T G snp nonsynonymous SNV A2216C E739A polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral CDH17 Cdh17 ENSG00000079112 cadherin 17 chr8:95139399-95229531 This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] depression Homozygous mutant mice exhibit impaired B lymphocyte development and impaired IgG1 and IgG3 antibody response to T-independent antigen. Adherens junctions interactions GO:0002314;germinal center B cell differentiation;IEA|GO:0002315;marginal zone B cell differentiation;IEA|GO:0006810;transport;NAS|GO:0006857;oligopeptide transport;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0030183;B cell differentiation;IEA|GO:0033626;positive regulation of integrin activation by cell surface receptor linked signal transduction;IMP|GO:0034332;adherens junction organization;TAS|GO:0035672;oligopeptide transmembrane transport;ISS|GO:0048536;spleen development;IEA GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030054;cell junction;IDA GO:0005178;integrin binding;IPI|GO:0005215;transporter activity;TAS|GO:0005427;proton-dependent oligopeptide secondary active transmembrane transporter activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH17 https://www.uniprot.org/uniprot/Q12864 https://www.ncbi.nlm.nih.gov/omim/?term=603017 http://www.informatics.jax.org/searchtool/Search.do?query=CDH17&submit=Quick%0D%1685ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH17 rs1051624 0.442692 0.4736 0.5121 0.08 1 13 exonic exonic exonic CDH17 CDH17 ENSG00000079112 nonsynonymous SNV nonsynonymous SNV unknown CDH17:NM_004063:exon16:c.A2216C:p.E739A,CDH17:NM_001144663:exon16:c.A2216C:p.E739A, CDH17:uc011lgp.1:exon16:c.A2216C:p.E739A,CDH17:uc003ygh.2:exon16:c.A2216C:p.E739A,CDH17:uc011lgo.1:exon12:c.A1574C:p.E525A, UNKNOWN Het;T>G 2147;58|60 Hom;T>G 3308;0|79 N N - 8 95143186 95143186 C G snp nonsynonymous SNV G2202C E734D polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) CDH17 Cdh17 ENSG00000079112 cadherin 17 chr8:95139399-95229531 This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] depression Homozygous mutant mice exhibit impaired B lymphocyte development and impaired IgG1 and IgG3 antibody response to T-independent antigen. Adherens junctions interactions GO:0002314;germinal center B cell differentiation;IEA|GO:0002315;marginal zone B cell differentiation;IEA|GO:0006810;transport;NAS|GO:0006857;oligopeptide transport;IEA|GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA|GO:0030183;B cell differentiation;IEA|GO:0033626;positive regulation of integrin activation by cell surface receptor linked signal transduction;IMP|GO:0034332;adherens junction organization;TAS|GO:0035672;oligopeptide transmembrane transport;ISS|GO:0048536;spleen development;IEA GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0030054;cell junction;IDA GO:0005178;integrin binding;IPI|GO:0005215;transporter activity;TAS|GO:0005427;proton-dependent oligopeptide secondary active transmembrane transporter activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH17 https://www.uniprot.org/uniprot/Q12864 https://www.ncbi.nlm.nih.gov/omim/?term=603017 http://www.informatics.jax.org/searchtool/Search.do?query=CDH17&submit=Quick%0D%1685ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH17 rs1051623 0.783946 0.8336 0.8040 0.08 1 13 exonic exonic exonic CDH17 CDH17 ENSG00000079112 nonsynonymous SNV nonsynonymous SNV unknown CDH17:NM_004063:exon16:c.G2202C:p.E734D,CDH17:NM_001144663:exon16:c.G2202C:p.E734D, CDH17:uc011lgp.1:exon16:c.G2202C:p.E734D,CDH17:uc003ygh.2:exon16:c.G2202C:p.E734D,CDH17:uc011lgo.1:exon12:c.G1560C:p.E520D, UNKNOWN Het;C>G 2041;51|53 Hom;C>G 3027;0|68 N N - 8 96812747 96812747 A G snp nonsynonymous SNV A110G N37S polar,hydrophilic,neutral polar,hydrophilic,neutral LOC100616530 rs3107035 0.210264 0 0 1 0 0 ncRNA_exonic exonic ncRNA_exonic C8orf37-AS1 LOC100616530 ENSG00000253773 Na nonsynonymous SNV Na Na LOC100616530:uc022ayo.2:exon4:c.A110G:p.N37S, Na Het;A>G 507;41|24 Hom;A>G 2690;0|87 N N - 8 98827531 98827531 G A snp splicing 373-1G>A LAPTM4B Laptm4b ENSG00000104341 lysosomal protein transmembrane 4 beta chr8:98787285-98865241 Colonic Neoplasms|Esophageal Neoplasms|Oesophageal neoplasm|Rectal Neoplasms; stomach cancer; Tobacco Use Disorder; Blood Coagulation Factors; Receptors, Tumor Necrosis Factor, Type II; lung cancer GO:0006810;transport;IEA GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LAPTM4B https://www.uniprot.org/uniprot/Q86VI4 https://www.ncbi.nlm.nih.gov/omim/?term=613296 http://www.informatics.jax.org/searchtool/Search.do?query=LAPTM4B&submit=Quick%0D%3107ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAPTM4B rs7818775 0.440096 0.4278 0.4840 0.25 1 4 intronic intronic splicing LAPTM4B LAPTM4B ENSG00000104341(ENST00000517924:exon3:c.373-1G>A) Na Na Na Na Na Na Het;G>A 518;33|26 Hom;G>A 1412;0|52 N N - 8 98943205 98943205 C T snp nonsynonymous SNV C167T A56V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral MATN2 Matn2 ENSG00000132561 matrilin 2 chr8:98881068-99048944 This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Potassium; kidney aging; thyroid cancer; Type 2 Diabetes| edema | rosiglitazone Homozygous null mice are healthy and fertile with no obvious abnormalities. GO:0001764;neuron migration;IEA|GO:0007411;axon guidance;IEA|GO:0008150;biological_process;ND|GO:0008347;glial cell migration;IEA|GO:0031104;dendrite regeneration;IEA|GO:0031175;neuron projection development;IEA|GO:0048678;response to axon injury;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;NAS|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IEA|GO:0031012;extracellular matrix;IDA GO:0003674;molecular_function;ND|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MATN2 https://www.uniprot.org/uniprot/O00339 https://www.ncbi.nlm.nih.gov/omim/?term=602108 http://www.informatics.jax.org/searchtool/Search.do?query=MATN2&submit=Quick%0D%6696ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN2 rs138635803 0.00379393 0.0024 0.0051 0.31 4 13 exonic exonic exonic MATN2 MATN2 ENSG00000132561 nonsynonymous SNV nonsynonymous SNV unknown MATN2:NM_030583:exon3:c.C167T:p.A56V,MATN2:NM_002380:exon3:c.C167T:p.A56V, MATN2:uc010mbh.1:exon3:c.C167T:p.A56V,MATN2:uc003yic.3:exon3:c.C167T:p.A56V,MATN2:uc003yid.3:exon3:c.C167T:p.A56V,MATN2:uc003yie.1:exon2:c.C167T:p.A56V,MATN2:uc003yib.1:exon3:c.C167T:p.A56V, UNKNOWN Het;C>T 1152;68|58 Hom;C>T 2906;1|107 N N - 9 107266596 107266596 T C snp nonsynonymous SNV T53C F18S aromatic,hydrophobic,neutral polar,hydrophilic,neutral OR13F1 Olfr275 ENSG00000186881 olfactory receptor family 13 subfamily F member 1 chr9:107266455-107267547 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Socioeconomic Factors Olfactory Signaling Pathway GO:0001963;synaptic transmission, dopaminergic;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007194;negative regulation of adenylate cyclase activity;IBA|GO:0007195;adenylate cyclase-inhibiting dopamine receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0009636;response to toxic substance;IBA|GO:0014059;regulation of dopamine secretion;IBA|GO:0042493;response to drug;IBA|GO:0043266;regulation of potassium ion transport;IBA|GO:0048148;behavioral response to cocaine;IBA|GO:0048149;behavioral response to ethanol;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA|GO:0051481;negative regulation of cytosolic calcium ion concentration;IBA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IBA|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IBA|GO:1901386;negative regulation of voltage-gated calcium channel activity;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IBA GO:0001591;dopamine neurotransmitter receptor activity, coupled via Gi/Go;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA|GO:0035240;dopamine binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR13F1 http://www.informatics.jax.org/searchtool/Search.do?query=OR13F1&submit=Quick%0D%15729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13F1 rs7049042 0.783546 0.7716 0.7411 0.08 1 13 exonic exonic exonic OR13F1 OR13F1 ENSG00000186881 nonsynonymous SNV nonsynonymous SNV unknown OR13F1:NM_001004485:exon1:c.T53C:p.F18S, OR13F1:uc011lvm.2:exon1:c.T53C:p.F18S, UNKNOWN Het;T>C 707;44|32 Hom;T>C 2694;0|95 N N - 9 107266844 107266844 A G snp nonsynonymous SNV A301G M101V hydrophobic,neutral aliphatic,hydrophobic,neutral OR13F1 Olfr275 ENSG00000186881 olfactory receptor family 13 subfamily F member 1 chr9:107266455-107267547 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Socioeconomic Factors Olfactory Signaling Pathway GO:0001963;synaptic transmission, dopaminergic;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007194;negative regulation of adenylate cyclase activity;IBA|GO:0007195;adenylate cyclase-inhibiting dopamine receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0009636;response to toxic substance;IBA|GO:0014059;regulation of dopamine secretion;IBA|GO:0042493;response to drug;IBA|GO:0043266;regulation of potassium ion transport;IBA|GO:0048148;behavioral response to cocaine;IBA|GO:0048149;behavioral response to ethanol;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA|GO:0051481;negative regulation of cytosolic calcium ion concentration;IBA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IBA|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IBA|GO:1901386;negative regulation of voltage-gated calcium channel activity;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IBA GO:0001591;dopamine neurotransmitter receptor activity, coupled via Gi/Go;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA|GO:0035240;dopamine binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR13F1 http://www.informatics.jax.org/searchtool/Search.do?query=OR13F1&submit=Quick%0D%15729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13F1 rs1403812 0.783946 0.7716 0.7407 0.46 6 13 exonic exonic exonic OR13F1 OR13F1 ENSG00000186881 nonsynonymous SNV nonsynonymous SNV unknown OR13F1:NM_001004485:exon1:c.A301G:p.M101V, OR13F1:uc011lvm.2:exon1:c.A301G:p.M101V, UNKNOWN Het;A>G 852;44|35 Hom;A>G 2023;0|68 N N - 9 107266943 107266943 G A snp nonsynonymous SNV G400A V134I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral OR13F1 Olfr275 ENSG00000186881 olfactory receptor family 13 subfamily F member 1 chr9:107266455-107267547 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Socioeconomic Factors Olfactory Signaling Pathway GO:0001963;synaptic transmission, dopaminergic;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007194;negative regulation of adenylate cyclase activity;IBA|GO:0007195;adenylate cyclase-inhibiting dopamine receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0009636;response to toxic substance;IBA|GO:0014059;regulation of dopamine secretion;IBA|GO:0042493;response to drug;IBA|GO:0043266;regulation of potassium ion transport;IBA|GO:0048148;behavioral response to cocaine;IBA|GO:0048149;behavioral response to ethanol;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA|GO:0051481;negative regulation of cytosolic calcium ion concentration;IBA|GO:0051967;negative regulation of synaptic transmission, glutamatergic;IBA|GO:0060158;phospholipase C-activating dopamine receptor signaling pathway;IBA|GO:1901386;negative regulation of voltage-gated calcium channel activity;IBA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IBA GO:0001591;dopamine neurotransmitter receptor activity, coupled via Gi/Go;IBA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA|GO:0035240;dopamine binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR13F1 http://www.informatics.jax.org/searchtool/Search.do?query=OR13F1&submit=Quick%0D%15729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13F1 rs1403811 0.782748 0.7716 0.7404 0.08 1 13 exonic exonic exonic OR13F1 OR13F1 ENSG00000186881 nonsynonymous SNV nonsynonymous SNV unknown OR13F1:NM_001004485:exon1:c.G400A:p.V134I, OR13F1:uc011lvm.2:exon1:c.G400A:p.V134I, UNKNOWN Het;G>A 1147;49|53 Hom;G>A 2800;2|104 N N - 9 107361111 107361111 T C snp nonsynonymous SNV A584G N195S polar,hydrophilic,neutral polar,hydrophilic,neutral OR13C5 ENSG00000277556 olfactory receptor family 13 subfamily C member 5 chr9:107360650-107361788 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR13C5 http://www.informatics.jax.org/searchtool/Search.do?query=OR13C5&submit=Quick%0D%21853ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13C5 rs6479259 0.133586 0.1049 0.0483 0.42 5 12 exonic exonic exonic OR13C5 OR13C5 ENSG00000255800 nonsynonymous SNV nonsynonymous SNV unknown OR13C5:NM_001004482:exon1:c.A584G:p.N195S, OR13C5:uc011lvp.2:exon1:c.A584G:p.N195S, UNKNOWN Het;T>C 2380;127|103 Hom;T>C 5165;1|173 N N - 9 107457275 107457275 A C snp nonsynonymous SNV A573C Q191H polar,hydrophilic,neutral aromatic,polar,hydrophilic,charged(+) OR13D1 Olfr270 ENSG00000179055 olfactory receptor family 13 subfamily D member 1 chr9:107456660-107457766 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR13D1 http://www.informatics.jax.org/searchtool/Search.do?query=OR13D1&submit=Quick%0D%14281ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13D1 rs10820709 0.487021 0.4144 0.3842 0.23 3 13 exonic exonic exonic OR13D1 OR13D1 ENSG00000179055 nonsynonymous SNV nonsynonymous SNV unknown OR13D1:NM_001004484:exon1:c.A573C:p.Q191H, OR13D1:uc011lvs.2:exon1:c.A573C:p.Q191H, UNKNOWN Het;A>C 2039;112|95 Hom;A>C 5224;2|184 N N - 9 107515214 107515214 G A snp nonsynonymous SNV G299A R100Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral NIPSNAP3A Nipsnap3b ENSG00000136783 nipsnap homolog 3A chr9:107509969-107522403 NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008] Acquired Immunodeficiency Syndrome|Disease Progression GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IBA|GO:0005829;cytosol;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NIPSNAP3A https://www.uniprot.org/uniprot/Q9UFN0 https://www.ncbi.nlm.nih.gov/omim/?term=608871 http://www.informatics.jax.org/searchtool/Search.do?query=NIPSNAP3A&submit=Quick%0D%7399ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NIPSNAP3A rs2274870 0.63758 0.6757 0.6180 0.54 7 13 exonic exonic exonic NIPSNAP3A NIPSNAP3A ENSG00000136783 nonsynonymous SNV nonsynonymous SNV unknown NIPSNAP3A:NM_015469:exon3:c.G299A:p.R100Q, NIPSNAP3A:uc004bch.1:exon3:c.G299A:p.R100Q,NIPSNAP3A:uc011lvu.1:exon3:c.G299A:p.R100Q,NIPSNAP3A:uc011lvt.2:exon3:c.G299A:p.R100Q, UNKNOWN Het;G>A 722;39|36 Hom;G>A 1627;0|61 N N - 9 107620867 107620867 C T snp nonsynonymous SNV G656A R219K polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) ABCA1 Abca1 ENSG00000165029 ATP binding cassette subfamily A member 1 chr9:107543283-107690518 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008] Coronary Artery Disease; Cholesterol, HDL; lung cancer ; bladder cancer; Forced Vital Capacity; Dementia; Coronary Disease|Coronary heart disease|Hyperlipidemias; myocardial infarct; cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; diabetes, type 2; Cerebral Infarction|Hypertension|Intracranial Arteriosclerosis; cholesterol, HDL; triglycerides; cholesterol, HDL; triglycerides; atherosclerosis, coronary; Cholesterol, HDL/blood*; Coronary Artery Disease|Disease Susceptibility; Dyslipidemias|Hypertriglyceridemia; Alzheimer's Disease; lipid profiles; lipoproteins and HDL; Apoplexy|Brain Ischemia|Stroke; Myocardial ischemia; Coronary Stenosis; Forced Expiratory Volume; Kidney Failure, Chronic; Insulin Resistance; chronic obstructive pulmonary disease; hypercholesterolemia; cholesterol; cholesterol, HDL; triglycerides; Cardiovascular Diseases; metabolic syndrome; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia; drug-related genes ; Dyslipidemias|Nephrotic Syndrome; Breast Neoplasms|Radiodermatitis; Brain Ischemia|Cerebral Hemorrhage|Stroke; plasma HDL cholesterol (HDL-C) levels; cholesterol; Dyslipidemias|HIV Infections|[X]Human immunodeficiency virus disease; Hypolipoproteinemias|lipoprotein; deficiency; Coronary Stenosis|Diabetes Complications; Myocardial Infarction; Tobacco Use Disorder; cholesterol, HDL; arterial-wall changes; cholesterol efflux; heart disease, ischemic; Cholesterol; cholesterol cholesterol, HDL cholesterol, LDL triglycerides; Alzheimer's disease ; Atherosclerosis|Hyperlipidemias; Chronic renal failure|Kidney Failure, Chronic; Eosinophils; Alzheimer's disease; Cholesterol, LDL; patent ductus arteriosus; Type 2 diabetes; Tangier Disease; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Diseases in Twins|Obstetric Labor, Premature; Alzheimer Disease; cholesterol, HDL hypertriglyceridemia triglycerides; Perioperative genomic profiles ; hypertension; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Lipoproteins, HDL; coronary artery disease; Lipid Metabolism; cholesterol, HDL cholesterol, LDL; high density lipoprotein cholesterol level; macular degeneration; schizophrenia; Cleft Lip|Cleft Palate; coronary heart disease; atherosclerosis, carotid; atherosclerosis; cholesterol, HDL; atherosclerosis, coronary; fluvastatin induced cholesterol changes; dementia; Type 2 Diabetes| edema | rosiglitazone; age and adiposity; Cerebral Infarction|Dementia|Hypoalphalipoproteinemias|Intracranial Arteriosclerosis|Intracranial Thrombosis; null; Macular Degeneration; Atherosclerosis; Glomerulonephritis, IGA; Coronary Disease|Coronary heart disease; cholesterol, HDL; Hyperlipidemias; Myocardial Ischemia; HDL cholesterol; Obesity|Overweight; atherosclerosis, coronary; triglycerides; body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; familial hypercholesterolaemia; lung cancer; plasma HDL-C levels; Metabolic Syndrome X; Carotid Artery Diseases|; Angina pectoris|Apoplexy|Myocardial Infarction|Stroke; Alzheimer's disease apolipoprotein E levels; Coronary Disease; Acute Coronary Syndrome| Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects. HDL assembly GO:0002790;peptide secretion;IEA|GO:0006497;protein lipidation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA|GO:0006911;phagocytosis, engulfment;IEA|GO:0007040;lysosome organization;IDA|GO:0007186;G-protein coupled receptor signaling pathway;IMP|GO:0007584;response to nutrient;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IDA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;TAS|GO:0010875;positive regulation of cholesterol efflux;IMP|GO:0010887;negative regulation of cholesterol storage;TAS|GO:0015914;phospholipid transport;IEA|GO:0015917;aminophospholipid transport;IEA|GO:0016197;endosomal transport;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030301;cholesterol transport;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IMP|GO:0032367;intracellular cholesterol transport;IMP|GO:0032489;regulation of Cdc42 protein signal transduction;IMP|GO:0033344;cholesterol efflux;IDA|GO:0033700;phospholipid efflux;IDA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034616;response to laminar fluid shear stress;IEP|GO:0038027;apolipoprotein A-I-mediated signaling pathway;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042158;lipoprotein biosynthetic process;IEA|GO:0042493;response to drug;IEA|GO:0042632;cholesterol homeostasis;IDA|GO:0043691;reverse cholesterol transport;IMP|GO:0045332;phospholipid translocation;IDA|GO:0050702;interleukin-1 beta secretion;IMP|GO:0055085;transmembrane transport;IEA|GO:0055091;phospholipid homeostasis;IMP|GO:0055098;response to low-density lipoprotein particle;IEP|GO:0060155;platelet dense granule organization;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071300;cellular response to retinoic acid;IEA|GO:0071397;cellular response to cholesterol;IEA|GO:0090107;regulation of high-density lipoprotein particle assembly;TAS|GO:0098656;anion transmembrane transport;IEA GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0045121;membrane raft;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0005102;receptor binding;IPI|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005543;phospholipid binding;IC|GO:0005548;phospholipid transporter activity;IDA|GO:0008509;anion transmembrane transporter activity;IEA|GO:0015485;cholesterol binding;IC|GO:0016887;ATPase activity;IDA|GO:0017127;cholesterol transporter activity;IDA|GO:0019905;syntaxin binding;IPI|GO:0031267;small GTPase binding;IPI|GO:0034185;apolipoprotein binding;IPI|GO:0034186;apolipoprotein A-I binding;IPI|GO:0034188;apolipoprotein A-I receptor activity;IDA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IEA|GO:0051117;ATPase binding;IPI|GO:0090554;phosphatidylcholine-translocating ATPase activity;IDA|GO:0090556;phosphatidylserine-translocating ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ABCA1 https://hpo.jax.org/app/browse/search?q=ABCA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600046 http://www.informatics.jax.org/searchtool/Search.do?query=ABCA1&submit=Quick%0D%11450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCA1 rs2230806 0.439696 0.3915 0.3299 0.15 2 13 exonic exonic exonic ABCA1 ABCA1 ENSG00000165029 nonsynonymous SNV nonsynonymous SNV unknown ABCA1:NM_005502:exon7:c.G656A:p.R219K, ABCA1:uc004bcl.3:exon7:c.G656A:p.R219K, UNKNOWN Het;C>T 734;37|37 Hom;C>T 1941;0|70 N N - 9 114359624 114359624 C A snp nonsynonymous SNV G79T A27S aliphatic,hydrophobic,neutral polar,hydrophilic,neutral PTGR1 Ptgr1 ENSG00000106853 prostaglandin reductase 1 chr9:114312002-114362135 This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] Body Height; Type 2 Diabetes| edema | rosiglitazone Synthesis of Lipoxins (LX) GO:0006691;leukotriene metabolic process;NAS|GO:0006693;prostaglandin metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0097327;response to antineoplastic agent;IEA GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0016491;oxidoreductase activity;IEA|GO:0032440;2-alkenal reductase [NAD(P)] activity;IEA|GO:0036132;13-prostaglandin reductase activity;IEA|GO:0047522;15-oxoprostaglandin 13-oxidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTGR1 https://www.uniprot.org/uniprot/Q14914 https://www.ncbi.nlm.nih.gov/omim/?term=601274 http://www.informatics.jax.org/searchtool/Search.do?query=PTGR1&submit=Quick%0D%3560ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTGR1 rs1053959 0.597843 0.5877 0.6010 0.08 1 13 exonic exonic exonic PTGR1 PTGR1 ENSG00000106853 nonsynonymous SNV nonsynonymous SNV unknown PTGR1:NM_001146109:exon2:c.G79T:p.A27S,PTGR1:NM_001146108:exon2:c.G79T:p.A27S,PTGR1:NM_012212:exon2:c.G79T:p.A27S, PTGR1:uc004bfh.2:exon2:c.G79T:p.A27S,PTGR1:uc011lwr.2:exon2:c.G79T:p.A27S,PTGR1:uc010mue.3:exon2:c.G79T:p.A27S,PTGR1:uc004bfi.3:exon2:c.G79T:p.A27S, UNKNOWN Het;C>A 893;62|50 Hom;C>A 2552;0|92 N N - 9 115950706 115950706 A C snp nonsynonymous SNV T1239G H413Q aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,neutral FKBP15 Fkbp15 ENSG00000119321 FK506 binding protein 15 chr9:115923286-115983641 GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006810;transport;IEA|GO:0006897;endocytosis;IEA|GO:0010923;negative regulation of phosphatase activity;IDA GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IEA|GO:0005884;actin filament;IEA|GO:0016020;membrane;IDA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0042995;cell projection;IEA GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0016853;isomerase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FKBP15 https://www.uniprot.org/uniprot/Q5T1M5 https://www.ncbi.nlm.nih.gov/omim/?term=617398 http://www.informatics.jax.org/searchtool/Search.do?query=FKBP15&submit=Quick%0D%5047ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FKBP15 rs10435864 0.526957 0.5542 0.5643 0.17 2 12 exonic exonic exonic FKBP15 FKBP15 ENSG00000119321 nonsynonymous SNV nonsynonymous SNV unknown FKBP15:NM_015258:exon13:c.T1239G:p.H413Q, FKBP15:uc004bgs.2:exon13:c.T1239G:p.H413Q,FKBP15:uc004bgt.2:exon13:c.T1239G:p.H413Q,FKBP15:uc011lxd.1:exon12:c.T1035G:p.H345Q,FKBP15:uc010muu.1:exon17:c.T1431G:p.H477Q,FKBP15:uc010mut.1:exon12:c.T843G:p.H281Q, UNKNOWN Het;A>C 1130;52|51 Hom;A>C 3175;2|116 N N - 9 116153891 116153891 C G snp nonsynonymous SNV G177C K59N polar,hydrophilic,charged(+) polar,hydrophilic,neutral ALAD Alad ENSG00000148218 aminolevulinate dehydratase chr9:116148597-116163613 The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] hypertension; lead and mercury metabolism; lead blood levels; zinc; brain cancer; kidney function; Hemoglobin A, Glycosylated; Lead Poisoning; normal variation; Amyotrophic Lateral Sclerosis; hematopoietic outcomes, lead exposure related; lead; renal function; uricemia; lung cancer ; low-level lead exposure; lung cancer; cytogenetic studies; bladder cancer; Kidney Diseases|Lead Poisoning, Nervous System, Adult; lead toxicity; Chronic renal failure|Kidney Failure, Chronic; Lead Poisoning, Nervous System, Adult; chronic obstructive pulmonary disease; Basophils; Amyotrophic Lateral Sclerosis|Bone Resorption|Lead Poisoning; DNA Damage|; creatinine kidney function lead toxicity; essential tremor; alcoholism; ALS/amyotrophic lateral sclerosis; null; lead nephrotoxicity Neutrophil degranulation GO:0001666;response to hypoxia;IEA|GO:0006779;porphyrin-containing compound biosynthetic process;IEA|GO:0006782;protoporphyrinogen IX biosynthetic process;IEA|GO:0006783;heme biosynthetic process;TAS|GO:0006979;response to oxidative stress;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009635;response to herbicide;IEA|GO:0009636;response to toxic substance;IEA|GO:0009725;response to hormone;IEA|GO:0010033;response to organic substance;IEA|GO:0010035;response to inorganic substance;IEA|GO:0010038;response to metal ion;IEA|GO:0010039;response to iron ion;IEA|GO:0010043;response to zinc ion;IEA|GO:0010044;response to aluminum ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010266;response to vitamin B1;IEA|GO:0010269;response to selenium ion;IEA|GO:0010288;response to lead ion;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0014823;response to activity;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032025;response to cobalt ion;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033014;tetrapyrrole biosynthetic process;IEA|GO:0033197;response to vitamin E;IEA|GO:0033273;response to vitamin;IEA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045471;response to ethanol;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0046686;response to cadmium ion;IEA|GO:0046689;response to mercury ion;IEA|GO:0051260;protein homooligomerization;IPI|GO:0051384;response to glucocorticoid;IEA|GO:0051597;response to methylmercury;IEA|GO:0070541;response to platinum ion;IEA|GO:0070542;response to fatty acid;IEA|GO:0071284;cellular response to lead ion;IEA|GO:0071353;cellular response to interleukin-4;IEA|GO:1901799;negative regulation of proteasomal protein catabolic process;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003824;catalytic activity;TAS|GO:0004655;porphobilinogen synthase activity;TAS|GO:0008270;zinc ion binding;IDA|GO:0016829;lyase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALAD https://www.uniprot.org/uniprot/P13716 https://hpo.jax.org/app/browse/search?q=ALAD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125270 http://www.informatics.jax.org/searchtool/Search.do?query=ALAD&submit=Quick%0D%9086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALAD rs1800435 0.0634984 0.0602 0.0827 0.15 2 13 exonic exonic exonic ALAD ALAD ENSG00000148218 nonsynonymous SNV nonsynonymous SNV unknown ALAD:NM_000031:exon4:c.G177C:p.K59N, ALAD:uc011lxe.2:exon3:c.G126C:p.K42N,ALAD:uc011lxf.2:exon4:c.G177C:p.K59N,ALAD:uc004bhl.4:exon4:c.G264C:p.K88N, UNKNOWN Het;C>G 648;39|33 Hom;C>G 1966;0|73 N N - 9 116187302 116187302 C G snp nonsynonymous SNV C811G P271A hydrophobic,neutral aliphatic,hydrophobic,neutral C9orf43 4933430I17Rik ENSG00000157653 chromosome 9 open reading frame 43 chr9:116172334-116191964 Cleft Lip|Cleft Palate GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf43 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf43&submit=Quick%0D%10118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf43 rs111748634 0.0401358 0.0421 0.0539 0.62 8 13 exonic exonic exonic C9orf43 C9orf43 ENSG00000157653 nonsynonymous SNV nonsynonymous SNV unknown C9orf43:NM_001278629:exon9:c.C811G:p.P271A,C9orf43:NM_001278630:exon9:c.C865G:p.P289A,C9orf43:NM_152786:exon9:c.C811G:p.P271A, C9orf43:uc004bho.4:exon9:c.C811G:p.P271A,C9orf43:uc004bhp.3:exon9:c.C811G:p.P271A, UNKNOWN Het;C>G 47;17|5 Hom;C>G 509;0|21 N N - 9 116191205 116191205 A C snp nonsynonymous SNV A1133C N378T polar,hydrophilic,neutral polar,hydrophilic,neutral C9orf43 4933430I17Rik ENSG00000157653 chromosome 9 open reading frame 43 chr9:116172334-116191964 Cleft Lip|Cleft Palate GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C9orf43 http://www.informatics.jax.org/searchtool/Search.do?query=C9orf43&submit=Quick%0D%10118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C9orf43 rs111841972 0.0395367 0.0423 0.0536 0.00 0 13 exonic exonic exonic C9orf43 C9orf43 ENSG00000157653 nonsynonymous SNV nonsynonymous SNV unknown C9orf43:NM_001278629:exon13:c.A1133C:p.N378T,C9orf43:NM_001278630:exon13:c.A1187C:p.N396T,C9orf43:NM_152786:exon13:c.A1133C:p.N378T, C9orf43:uc004bho.4:exon13:c.A1133C:p.N378T,C9orf43:uc004bhp.3:exon13:c.A1133C:p.N378T, UNKNOWN Het;A>C 247;30|14 Hom;A>C 728;0|28 N N - 9 117050998 117050998 G A snp nonsynonymous SNV G4061A R1354Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral COL27A1 Col27a1 ENSG00000196739 collagen type XXVII alpha 1 chain chr9:116917840-117074791 This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014] Cleft Lip|Cleft Palate|Tooth Abnormalities; Lipoproteins, HDL; Lipids; Body Height; Cholesterol, HDL; Tobacco Use Disorder; height; Triglycerides Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. Collagen chain trimerization GO:0003431;growth plate cartilage chondrocyte development;IEA|GO:0030198;extracellular matrix organization;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005583;fibrillar collagen trimer;IEA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0005201;extracellular matrix structural constituent;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL27A1 https://hpo.jax.org/app/browse/search?q=COL27A1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608461 http://www.informatics.jax.org/searchtool/Search.do?query=COL27A1&submit=Quick%0D%16453ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL27A1 rs10982134 0.423722 0.3005 0.3927 0.25 3 12 exonic exonic exonic COL27A1 COL27A1 ENSG00000196739 nonsynonymous SNV nonsynonymous SNV unknown COL27A1:NM_032888:exon43:c.G4061A:p.R1354Q, COL27A1:uc011lxl.2:exon43:c.G4061A:p.R1354Q, UNKNOWN Het;G>A 821;26|38 Hom;G>A 1386;0|54 N N - 9 117124731 117124731 G A snp nonsynonymous SNV C1871T P624L hydrophobic,neutral aliphatic,hydrophobic,neutral AKNA Akna ENSG00000106948 AT-hook transcription factor chr9:117096436-117156685 Type 2 Diabetes| edema | rosiglitazone; Cervical Neoplasm|Uterine Cervical Neoplasms Mice homozygous for a hypomorphic or a knock-out allele exhibit partial postnatal lethality, pathogen-induced acute neutrophil responses leading to systemic inflammation and alveolar destruction, and increased susceptibility to fungal infection. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AKNA https://www.uniprot.org/uniprot/Q7Z591 https://www.ncbi.nlm.nih.gov/omim/?term=605729 http://www.informatics.jax.org/searchtool/Search.do?query=AKNA&submit=Quick%0D%3563ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AKNA rs3748176 0.384185 0.4150 0.5021 0.15 2 13 exonic exonic exonic AKNA AKNA ENSG00000106948 nonsynonymous SNV nonsynonymous SNV unknown AKNA:NM_030767:exon8:c.C1871T:p.P624L, AKNA:uc004bir.3:exon8:c.C1871T:p.P624L,AKNA:uc004bip.3:exon6:c.C1628T:p.P543L,AKNA:uc004bis.3:exon8:c.C1871T:p.P624L,AKNA:uc004bio.3:exon7:c.C251T:p.P84L,AKNA:uc004biq.3:exon7:c.C1871T:p.P624L,AKNA:uc004biu.1:exon7:c.C1094T:p.P365L,AKNA:uc010mve.2:exon7:c.C1514T:p.P505L,AKNA:uc004biv.1:exon8:c.C1871T:p.P624L, UNKNOWN Het;G>A 1540;66|74 Hom;G>A 3887;0|140 N N - 9 117169033 117169033 A G snp nonsynonymous SNV T1838C M613T hydrophobic,neutral polar,hydrophilic,neutral DFNB31 Whrn rs942519 0.481629 0.4920 0.5311 0.08 1 13 exonic exonic exonic DFNB31 DFNB31 ENSG00000095397 nonsynonymous SNV nonsynonymous SNV unknown DFNB31:NM_015404:exon9:c.T1838C:p.M613T,DFNB31:NM_001083885:exon9:c.T689C:p.M230T,DFNB31:NM_001173425:exon9:c.T1838C:p.M613T, DFNB31:uc004bix.3:exon5:c.T785C:p.M262T,DFNB31:uc004bja.4:exon9:c.T1838C:p.M613T,DFNB31:uc004biz.4:exon9:c.T1838C:p.M613T,DFNB31:uc004biy.4:exon9:c.T689C:p.M230T, UNKNOWN Het;A>G 1151;67|58 Hom;A>G 4130;0|155 N N - 9 118163563 118163563 C T snp nonsynonymous SNV C179T A60V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral DEC1 rs2269700 0.762181 0.7037 0.6778 0.09 1 11 exonic exonic exonic DEC1 DEC1 ENSG00000173077 nonsynonymous SNV nonsynonymous SNV unknown DEC1:NM_017418:exon7:c.C179T:p.A60V, DEC1:uc004bjk.1:exon7:c.C179T:p.A60V, UNKNOWN Het;C>T 2048;136|105 Hom;C>T 5755;0|222 N N - 9 123769200 123769200 C T snp nonsynonymous SNV G2404A V802I aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral C5 Hc ENSG00000106804 complement C5 chr9:123714616-123812554 This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015] Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; diabetes, type 1 ; null; respiratory syncytial virus bronchiolitis; Hepatitis C, Chronic|Liver Cirrhosis; diabetes, type 2; Autoimmune Diseases|Endometriosis; Coronary Artery Disease|Inflammation; giant cell arteritis; Chlamydia Infections|Inflammation|Trachoma; alopecia areata; multiple autoimmune diseases; Calcium; Wegener's granulomatosis; Arthritis, Rheumatoid|Rheumatoid Arthritis; Rheumatic Heart Disease; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Arthritis, Rheumatoid|Cardiovascular Diseases|Neoplasms|Rheumatoid Arthritis; Brain Ischemia|Inflammation|Stroke; atherosclerosis; rheumatoid arthritis; Erythema Nodosum|Sarcoidosis; Type 2 diabetes; Arthritis, Juvenile Rheumatoid|; Recurrence|Venous Thromboembolism; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arthritis, Rheumatoid|Atherosclerosis|Cardiovascular Diseases|Rheumatoid Arthritis; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Migraine Disorders; bronchodilator response; Arthritis|Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Autoimmune Diseases|Lupus Erythematosus, Systemic; systemic lupus erythematosus ; Brain Ischemia|Stroke; Lymphoma, Non-Hodgkin; Pemphigus; Glomerulonephritis, IGA|IGA Glomerulonephritides|Lupus Nephritis|Nephritis SLE; Macular Degeneration; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; Arthritis, Rheumatoid|; Age-related Macular Degeneration; Type 2 Diabetes| edema | rosiglitazone; Inflammation|Venous Thromboembolism; asthma; Arthritis, Rheumatoid|Neoplasms|Sepsis; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Meningeal Neoplasms|meningioma Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2. Regulation of Complement cascade GO:0000187;activation of MAPK activity;TAS|GO:0001701;in utero embryonic development;IEA|GO:0002376;immune system process;IEA|GO:0006935;chemotaxis;TAS|GO:0006950;response to stress;TAS|GO:0006954;inflammatory response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;IEA|GO:0006958;complement activation, classical pathway;IEA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010760;negative regulation of macrophage chemotaxis;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0019835;cytolysis;IEA|GO:0030449;regulation of complement activation;TAS|GO:0045087;innate immune response;IEA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0060326;cell chemotaxis;IEA|GO:0090197;positive regulation of chemokine secretion;IDA GO:0005576;extracellular region;TAS|GO:0005579;membrane attack complex;IDA|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008009;chemokine activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/C5 https://www.uniprot.org/uniprot/P01031 https://hpo.jax.org/app/browse/search?q=C5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120900 http://www.informatics.jax.org/searchtool/Search.do?query=C5&submit=Quick%0D%3554ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C5 rs17611 0.404752 0.3249 0.4586 0.08 1 13 exonic exonic exonic C5 C5 ENSG00000106804 nonsynonymous SNV nonsynonymous SNV unknown C5:NM_001735:exon19:c.G2404A:p.V802I, C5:uc004bkv.3:exon19:c.G2404A:p.V802I,C5:uc010mvm.1:exon19:c.G2404A:p.V802I, UNKNOWN Het;C>T 947;69|51 Hom;C>T 2669;2|106 N N - 9 123860689 123860689 C T snp nonsynonymous SNV C647T P216L hydrophobic,neutral aliphatic,hydrophobic,neutral CNTRL Cntrl ENSG00000119397 centriolin chr9:123837141-123939888 This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008] breast cancer; Tobacco Use Disorder Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IEA|GO:0007049;cell cycle;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA GO:0004713;protein tyrosine kinase activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CNTRL https://www.uniprot.org/uniprot/Q7Z7A1 https://www.ncbi.nlm.nih.gov/omim/?term=605496 http://www.informatics.jax.org/searchtool/Search.do?query=CNTRL&submit=Quick%0D%5055ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNTRL rs10818504 0.430911 0.3491 0.4586 0.67 8 12 exonic exonic exonic CNTRL CNTRL ENSG00000119397 nonsynonymous SNV nonsynonymous SNV unknown CNTRL:NM_007018:exon5:c.C647T:p.P216L, CNTRL:uc004bkw.2:exon7:c.C647T:p.P216L,CNTRL:uc004bkx.1:exon5:c.C647T:p.P216L, UNKNOWN Het;C>T 477;25|21 Hom;C>T 679;2|28 N N - 9 125391770 125391770 C CA indel frameshift substitution 45_45delinsTG OR1B1 Olfr362 ENSG00000280094 olfactory receptor family 1 subfamily B member 1 (gene/pseudogene) chr9:125390858-125391852 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050907;detection of chemical stimulus involved in sensory perception;IBA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IBA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OR1B1 http://www.informatics.jax.org/searchtool/Search.do?query=OR1B1&submit=Quick%0D%22197ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1B1 rs11421222 0.408546 0.4754 0.4605 1 0 0 exonic exonic exonic OR1B1 OR1B1 ENSG00000171484 frameshift substitution frameshift substitution unknown OR1B1:NM_001004450:exon1:c.45_45delinsTG, OR1B1:uc011lyz.2:exon1:c.45_45delinsTG, UNKNOWN Het;+A 786;56|38 Hom;+A 2931;0|101 N N - 9 133901819 133901819 C A snp nonsynonymous SNV C521A P174H hydrophobic,neutral aromatic,polar,hydrophilic,charged(+) LAMC3 Lamc3 ENSG00000050555 laminin subunit gamma 3 chr9:133884469-133969860 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011] Hemoglobin A, Glycosylated; Type 2 Diabetes| edema | rosiglitazone; Heart Failure Mice homozygous for a reporter allele exhibit abnormal amacrine cell morphology. MET activates PTK2 signaling GO:0000904;cell morphogenesis involved in differentiation;IEA|GO:0007155;cell adhesion;IEA|GO:0007601;visual perception;IEA|GO:0014002;astrocyte development;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0060041;retina development in camera-type eye;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005604;basement membrane;IEA|GO:0016020;membrane;TAS GO:0005198;structural molecule activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/LAMC3 https://www.uniprot.org/uniprot/Q9Y6N6 https://hpo.jax.org/app/browse/search?q=LAMC3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604349 http://www.informatics.jax.org/searchtool/Search.do?query=LAMC3&submit=Quick%0D%929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LAMC3 rs2275137 0.320288 0.2840 0.2232 0.23 3 13 exonic exonic exonic LAMC3 LAMC3 ENSG00000050555 nonsynonymous SNV nonsynonymous SNV unknown LAMC3:NM_006059:exon2:c.C521A:p.P174H, LAMC3:uc004caa.1:exon2:c.C521A:p.P174H, UNKNOWN Het;C>A 2138;90|103 Hom;C>A 5737;0|161 N N - 9 135202829 135202829 T C snp nonsynonymous SNV A4156G I1386V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral SETX Setx ENSG00000107290 senataxin chr9:135136743-135230372 This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Body Height; Lupus Erythematosus, Systemic; Multiple Sclerosis; Tobacco Use Disorder; longevity Mice homozygous for a knock-out allele exhibit male infertility due to arrested male meiosis and reduced female fertility. GO:0000165;MAPK cascade;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006369;termination of RNA polymerase II transcription;IEA|GO:0006376;mRNA splice site selection;IMP|GO:0006396;RNA processing;TAS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0007623;circadian rhythm;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IDA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0030154;cell differentiation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033120;positive regulation of RNA splicing;IMP|GO:0034599;cellular response to oxidative stress;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043491;protein kinase B signaling;IDA|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048511;rhythmic process;IEA|GO:0060566;positive regulation of DNA-templated transcription, termination;IMP|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0071300;cellular response to retinoic acid;IDA|GO:2000144;positive regulation of DNA-templated transcription, initiation;IMP|GO:2000806;positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled;IMP GO:0000228;nuclear chromosome;IDA|GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0030424;axon;IDA|GO:0030426;growth cone;IDA|GO:0042995;cell projection;IEA|GO:0045171;intercellular bridge;IDA GO:0000166;nucleotide binding;IEA|GO:0001147;transcription termination site sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IC|GO:0003678;DNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SETX https://www.uniprot.org/uniprot/Q7Z333 https://hpo.jax.org/app/browse/search?q=SETX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608465 http://www.informatics.jax.org/searchtool/Search.do?query=SETX&submit=Quick%0D%3596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SETX rs543573 0.55611 0.6938 0.7252 0.15 2 13 exonic exonic exonic SETX SETX ENSG00000107290 nonsynonymous SNV nonsynonymous SNV unknown SETX:NM_015046:exon10:c.A4156G:p.I1386V, SETX:uc004cbk.3:exon10:c.A4156G:p.I1386V,SETX:uc004cbj.3:exon1:c.A3013G:p.I1005V,SETX:uc010mzt.3:exon1:c.A3013G:p.I1005V, UNKNOWN Het;T>C 2752;133|127 Hom;T>C 5699;0|203 N N - 9 135203231 135203231 C T snp nonsynonymous SNV G3754A G1252R aliphatic,neutral polar,hydrophilic,charged(+) SETX Setx ENSG00000107290 senataxin chr9:135136743-135230372 This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Body Height; Lupus Erythematosus, Systemic; Multiple Sclerosis; Tobacco Use Disorder; longevity Mice homozygous for a knock-out allele exhibit male infertility due to arrested male meiosis and reduced female fertility. GO:0000165;MAPK cascade;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006369;termination of RNA polymerase II transcription;IEA|GO:0006376;mRNA splice site selection;IMP|GO:0006396;RNA processing;TAS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0007623;circadian rhythm;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IDA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0030154;cell differentiation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033120;positive regulation of RNA splicing;IMP|GO:0034599;cellular response to oxidative stress;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043491;protein kinase B signaling;IDA|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048511;rhythmic process;IEA|GO:0060566;positive regulation of DNA-templated transcription, termination;IMP|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0071300;cellular response to retinoic acid;IDA|GO:2000144;positive regulation of DNA-templated transcription, initiation;IMP|GO:2000806;positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled;IMP GO:0000228;nuclear chromosome;IDA|GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0030424;axon;IDA|GO:0030426;growth cone;IDA|GO:0042995;cell projection;IEA|GO:0045171;intercellular bridge;IDA GO:0000166;nucleotide binding;IEA|GO:0001147;transcription termination site sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IC|GO:0003678;DNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SETX https://www.uniprot.org/uniprot/Q7Z333 https://hpo.jax.org/app/browse/search?q=SETX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608465 http://www.informatics.jax.org/searchtool/Search.do?query=SETX&submit=Quick%0D%3596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SETX rs1183768 0.55611 0.6931 0.7251 0.38 5 13 exonic exonic exonic SETX SETX ENSG00000107290 nonsynonymous SNV nonsynonymous SNV unknown SETX:NM_015046:exon10:c.G3754A:p.G1252R, SETX:uc004cbk.3:exon10:c.G3754A:p.G1252R,SETX:uc004cbj.3:exon1:c.G2611A:p.G871R,SETX:uc010mzt.3:exon1:c.G2611A:p.G871R, UNKNOWN Het;C>T 2263;107|104 Hom;C>T 6056;1|216 N N - 9 135203409 135203409 A C snp nonsynonymous SNV T3576G D1192E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) SETX Setx ENSG00000107290 senataxin chr9:135136743-135230372 This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008] Chronic renal failure|Kidney Failure, Chronic; Body Height; Lupus Erythematosus, Systemic; Multiple Sclerosis; Tobacco Use Disorder; longevity Mice homozygous for a knock-out allele exhibit male infertility due to arrested male meiosis and reduced female fertility. GO:0000165;MAPK cascade;IDA|GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006353;DNA-templated transcription, termination;IMP|GO:0006369;termination of RNA polymerase II transcription;IEA|GO:0006376;mRNA splice site selection;IMP|GO:0006396;RNA processing;TAS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007283;spermatogenesis;IEA|GO:0007399;nervous system development;IEA|GO:0007623;circadian rhythm;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;IDA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0030154;cell differentiation;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:0033120;positive regulation of RNA splicing;IMP|GO:0034599;cellular response to oxidative stress;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043491;protein kinase B signaling;IDA|GO:0044344;cellular response to fibroblast growth factor stimulus;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048511;rhythmic process;IEA|GO:0060566;positive regulation of DNA-templated transcription, termination;IMP|GO:0070301;cellular response to hydrogen peroxide;IDA|GO:0071300;cellular response to retinoic acid;IDA|GO:2000144;positive regulation of DNA-templated transcription, initiation;IMP|GO:2000806;positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled;IMP GO:0000228;nuclear chromosome;IDA|GO:0000781;chromosome, telomeric region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0016604;nuclear body;IDA|GO:0030424;axon;IDA|GO:0030426;growth cone;IDA|GO:0042995;cell projection;IEA|GO:0045171;intercellular bridge;IDA GO:0000166;nucleotide binding;IEA|GO:0001147;transcription termination site sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IC|GO:0003678;DNA helicase activity;TAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SETX https://www.uniprot.org/uniprot/Q7Z333 https://hpo.jax.org/app/browse/search?q=SETX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608465 http://www.informatics.jax.org/searchtool/Search.do?query=SETX&submit=Quick%0D%3596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SETX rs1185193 0.640575 0.7929 0.7635 0.23 3 13 exonic exonic exonic SETX SETX ENSG00000107290 nonsynonymous SNV nonsynonymous SNV unknown SETX:NM_015046:exon10:c.T3576G:p.D1192E, SETX:uc004cbk.3:exon10:c.T3576G:p.D1192E,SETX:uc004cbj.3:exon1:c.T2433G:p.D811E,SETX:uc010mzt.3:exon1:c.T2433G:p.D811E, UNKNOWN Het;A>C 1808;62|69 Hom;A>C 3106;1|100 N N - 9 136268084 136268084 A G snp nonsynonymous SNV A1417G K473E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) STKLD1 Stkld1 rs3124747 0.470048 0.5727 0.6320 1 0 0 exonic exonic exonic STKLD1 C9orf96 ENSG00000198870 nonsynonymous SNV nonsynonymous SNV unknown STKLD1:NM_153710:exon14:c.A1417G:p.K473E, C9orf96:uc004cdk.3:exon14:c.A1417G:p.K473E, UNKNOWN Het;A>G 777;45|36 Hom;A>G 2312;0|84 N N - 9 137293761 137293761 G A snp nonsynonymous SNV G463A G155R aliphatic,neutral polar,hydrophilic,charged(+) RXRA Rxra ENSG00000186350 retinoid X receptor alpha chr9:137208944-137332431 Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] colorectal cancer; chronic obstructive pulmonary disease; schizophrenia; autism; alcoholism; bipolar disorder; attention deficit hyperactivity disorder; Alzheimer's disease ; Heart Failure; Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Renal Cell|Kidney Neoplasms; normal variation; Bone Mineral Density; psoriasis; plasma HDL cholesterol (HDL-C) levels; rubella vaccine; Platelet Count; atherosclerosis, coronary hyperlipidemia; Body Weight; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; bladder cancer; Tobacco Use Disorder; lung cancer ; Bile Duct Neoplasms|Gallbladder Neoplasms|Gallstones; Coronary Artery Disease; Coronary Disease; prostate cancer; Adenoma|Colonic Neoplasms|Recurrence; Chronic renal failure|Kidney Failure, Chronic; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; lung cancer; Hypercholesterolemia|LDLC levels; Coronary Restenosis|Coronary Stenosis Null embryos have multiple organ defects and die of cardiac failure by E14.5. Gene ablation in liver, prostate, fat or epidermis tissue-specifically affects development, function and/or neoplasia. Hypomorphic mutants develop alopecia, progressively severe dermal cysts and late corneal opacity. RUNX3 regulates YAP1-mediated transcription GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001701;in utero embryonic development;IEA|GO:0001890;placenta development;IEA|GO:0001893;maternal placenta development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006766;vitamin metabolic process;TAS|GO:0007507;heart development;IEA|GO:0007566;embryo implantation;IEA|GO:0008203;cholesterol metabolic process;TAS|GO:0015721;bile acid and bile salt transport;TAS|GO:0016032;viral process;IEA|GO:0019048;modulation by virus of host morphology or physiology;IDA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0032526;response to retinoic acid;IMP|GO:0035357;peroxisome proliferator activated receptor signaling pathway;IDA|GO:0043010;camera-type eye development;IEA|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0045994;positive regulation of translational initiation by iron;IEA|GO:0048384;retinoic acid receptor signaling pathway;IMP|GO:0051289;protein homotetramerization;IDA|GO:0055010;ventricular cardiac muscle tissue morphogenesis;IEA|GO:0055012;ventricular cardiac muscle cell differentiation;IEA|GO:0060038;cardiac muscle cell proliferation;IEA|GO:0060528;secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development;IEA|GO:0060687;regulation of branching involved in prostate gland morphogenesis;IEA|GO:1901522;positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus;IEA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0043234;protein complex;IDA|GO:0043235;receptor complex;IDA|GO:0090575;RNA polymerase II transcription factor complex;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001972;retinoic acid binding;IDA|GO:0003677;DNA binding;TAS|GO:0003690;double-stranded DNA binding;IMP|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003707;steroid hormone receptor activity;IEA|GO:0003708;retinoic acid receptor activity;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IDA|GO:0004886;9-cis retinoic acid receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0008270;zinc ion binding;IDA|GO:0016922;ligand-dependent nuclear receptor binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031490;chromatin DNA binding;IEA|GO:0042277;peptide binding;IDA|GO:0042809;vitamin D receptor binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0044323;retinoic acid-responsive element binding;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA|GO:0050692;DBD domain binding;IDA|GO:0050693;LBD domain binding;IDA|GO:0070644;vitamin D response element binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RXRA https://www.ncbi.nlm.nih.gov/omim/?term=180245 http://www.informatics.jax.org/searchtool/Search.do?query=RXRA&submit=Quick%0D%15622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RXRA rs2234753 0.770966 0.8887 0.8246 1 0 0 intronic exonic intronic RXRA RXRA ENSG00000186350 Na nonsynonymous SNV Na Na RXRA:uc004cfa.1:exon3:c.G463A:p.G155R, Na Het;G>A 340;5|15 Hom;G>A 439;0|15 N N - 9 138586966 138586966 G A snp nonsynonymous SNV C805T P269S hydrophobic,neutral polar,hydrophilic,neutral SOHLH1 Sohlh1 ENSG00000165643 spermatogenesis and oogenesis specific basic helix-loop-helix 1 chr9:138585253-138591374 This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] Azoospermia Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly. GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SOHLH1 https://www.uniprot.org/uniprot/Q5JUK2 https://hpo.jax.org/app/browse/search?q=SOHLH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610224 http://www.informatics.jax.org/searchtool/Search.do?query=SOHLH1&submit=Quick%0D%202ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOHLH1 rs3119932 0.879992 0.8723 0.9238 0.08 1 12 exonic exonic exonic SOHLH1 SOHLH1 ENSG00000165643 nonsynonymous SNV nonsynonymous SNV unknown SOHLH1:NM_001101677:exon6:c.C805T:p.P269S,SOHLH1:NM_001012415:exon6:c.C805T:p.P269S, SOHLH1:uc010nbe.3:exon6:c.C805T:p.P269S,SOHLH1:uc004cgl.3:exon6:c.C805T:p.P269S, UNKNOWN Het;G>A 661;15|18 Hom;G>A 1661;0|37 N N - 9 138590928 138590928 C T snp nonsynonymous SNV G110A R37Q polar,hydrophilic,charged(+) polar,hydrophilic,neutral SOHLH1 Sohlh1 ENSG00000165643 spermatogenesis and oogenesis specific basic helix-loop-helix 1 chr9:138585253-138591374 This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] Azoospermia Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly. GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA|GO:0001541;ovarian follicle development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048477;oogenesis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001046;core promoter sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SOHLH1 https://www.uniprot.org/uniprot/Q5JUK2 https://hpo.jax.org/app/browse/search?q=SOHLH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610224 http://www.informatics.jax.org/searchtool/Search.do?query=SOHLH1&submit=Quick%0D%202ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOHLH1 rs471525 0.808107 0.8807 0.8792 0.08 1 12 exonic exonic exonic SOHLH1 SOHLH1 ENSG00000165643 nonsynonymous SNV nonsynonymous SNV unknown SOHLH1:NM_001101677:exon2:c.G110A:p.R37Q,SOHLH1:NM_001012415:exon2:c.G110A:p.R37Q, SOHLH1:uc010nbe.3:exon2:c.G110A:p.R37Q,SOHLH1:uc004cgl.3:exon2:c.G110A:p.R37Q, UNKNOWN Het;C>T 1232;32|57 Hom;C>T 2581;0|99 N N - 9 139616742 139616742 A G snp nonsynonymous SNV A472G S158G polar,hydrophilic,neutral aliphatic,neutral FAM69B Fam69b ENSG00000165716 family with sequence similarity 69 member B chr9:139607022-139618502 This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011] GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM69B https://www.ncbi.nlm.nih.gov/omim/?term=614543 http://www.informatics.jax.org/searchtool/Search.do?query=FAM69B&submit=Quick%0D%11611ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM69B rs945384 0.827077 0.8441 0.9227 0.15 2 13 exonic exonic exonic FAM69B FAM69B ENSG00000165716 nonsynonymous SNV nonsynonymous SNV unknown FAM69B:NM_152421:exon4:c.A472G:p.S158G, FAM69B:uc004cik.3:exon4:c.A472G:p.S158G,FAM69B:uc004cil.3:exon2:c.A211G:p.S71G, UNKNOWN Het;A>G 1457;95|71 Hom;A>G 4376;0|154 N N - 9 139656670 139656670 T C snp nonsynonymous SNV A490G K164E polar,hydrophilic,charged(+) polar,hydrophilic,charged(-) LCN15 Gm33749 ENSG00000177984 lipocalin 15 chr9:139654086-139660707 Transport of fatty acids GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA GO:0005576;extracellular region;IEA GO:0005215;transporter activity;IEA|GO:0036094;small molecule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LCN15 http://www.informatics.jax.org/searchtool/Search.do?query=LCN15&submit=Quick%0D%14114ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN15 rs2297722 0.733027 0.7465 0.7512 0.08 1 13 exonic exonic exonic LCN15 LCN15 ENSG00000177984 nonsynonymous SNV nonsynonymous SNV unknown LCN15:NM_203347:exon5:c.A490G:p.K164E, LCN15:uc004cjd.3:exon5:c.A490G:p.K164E, UNKNOWN Het;T>C 624;32|30 Hom;T>C 1359;0|49 N N - 9 139656706 139656706 A C snp nonsynonymous SNV T454G S152A polar,hydrophilic,neutral aliphatic,hydrophobic,neutral LCN15 Gm33749 ENSG00000177984 lipocalin 15 chr9:139654086-139660707 Transport of fatty acids GO:0006629;lipid metabolic process;IEA|GO:0006810;transport;IEA GO:0005576;extracellular region;IEA GO:0005215;transporter activity;IEA|GO:0036094;small molecule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LCN15 http://www.informatics.jax.org/searchtool/Search.do?query=LCN15&submit=Quick%0D%14114ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LCN15 rs2297723 0.733027 0.7474 0.7517 0.15 2 13 exonic exonic exonic LCN15 LCN15 ENSG00000177984 nonsynonymous SNV nonsynonymous SNV unknown LCN15:NM_203347:exon5:c.T454G:p.S152A, LCN15:uc004cjd.3:exon5:c.T454G:p.S152A, UNKNOWN Het;A>C 761;34|38 Hom;A>C 1676;0|61 N N - 9 140120396 140120396 C T snp nonsynonymous SNV C443T A148V aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral CYSRT1 Cysrt1 rs6606566 0.841853 0.8166 0.8399 0.17 2 12 exonic exonic exonic CYSRT1 C9orf169 ENSG00000197191 nonsynonymous SNV nonsynonymous SNV unknown CYSRT1:NM_199001:exon2:c.C443T:p.A148V, C9orf169:uc004cmb.3:exon2:c.C323T:p.A108V,C9orf169:uc022bqd.1:exon1:c.C323T:p.A108V, UNKNOWN Het;C>T 336;37|18 Hom;C>T 1303;0|50 N N - 9 140130606 140130606 A T snp nonsynonymous SNV A1538T E513V polar,hydrophilic,charged(-) aliphatic,hydrophobic,neutral SLC34A3 Slc34a3 ENSG00000198569 solute carrier family 34 member 3 chr9:140125209-140131006 This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010] HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA HEREDITARY Mice homozygous for a knock-out allele exhibit hypercalciuria, hypercalcemia and increased plasma 1,25(OH)2D3 levels but do not develop hypophosphatemia, renal calcification, rickets, or osteomalacia. Type II Na+/Pi cotransporters GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IDA|GO:0006817;phosphate ion transport;IDA|GO:0030643;cellular phosphate ion homeostasis;IDA|GO:0035435;phosphate ion transmembrane transport;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0044341;sodium-dependent phosphate transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005737;cytoplasm;IBA|GO:0005886;plasma membrane;TAS|GO:0005903;brush border;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;ISS|GO:0031526;brush border membrane;IEA|GO:0031982;vesicle;IBA GO:0005436;sodium:phosphate symporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0015321;sodium-dependent phosphate transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC34A3 https://hpo.jax.org/app/browse/search?q=SLC34A3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609826 http://www.informatics.jax.org/searchtool/Search.do?query=SLC34A3&submit=Quick%0D%16928ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC34A3 rs28542318 0.946086 0.8869 0.8831 0.15 2 13 exonic exonic exonic SLC34A3 SLC34A3 ENSG00000198569 nonsynonymous SNV nonsynonymous SNV unknown SLC34A3:NM_001177317:exon13:c.A1538T:p.E513V,SLC34A3:NM_080877:exon13:c.A1538T:p.E513V,SLC34A3:NM_001177316:exon13:c.A1538T:p.E513V, SLC34A3:uc004cmf.1:exon13:c.A1538T:p.E513V,SLC34A3:uc022bqf.1:exon13:c.A1538T:p.E513V,SLC34A3:uc011met.2:exon13:c.A1538T:p.E513V, UNKNOWN Het;A>T 1966;66|93 Hom;A>T 3790;0|142 N N - 9 141070125 141070125 C T snp nonsynonymous SNV C365T P122L hydrophobic,neutral aliphatic,hydrophobic,neutral TUBBP5 rs10867114 0.322484 0 0.4172 1 0 0 ncRNA_exonic exonic ncRNA_exonic TUBBP5 TUBBP5 ENSG00000159247 Na nonsynonymous SNV Na Na TUBBP5:uc010ncq.3:exon4:c.C365T:p.P122L, Na Het;C>T 1959;84|81 Hom;C>T 4400;2|150 N N - 9 14846036 14846036 C G snp nonsynonymous SNV G1315C V439L aliphatic,hydrophobic,neutral aliphatic,hydrophobic,neutral FREM1 Frem1 ENSG00000164946 FRAS1 related extracellular matrix 1 chr9:14734664-14910993 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] Hip; Blood Pressure; Myocardial Infarction; height; Tobacco Use Disorder; Body Height Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. GO:0007154;cell communication;IEA|GO:0007155;cell adhesion;IEA|GO:0007160;cell-matrix adhesion;IEA|GO:0007275;multicellular organism development;IEA|GO:0097094;craniofacial suture morphogenesis;IMP GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FREM1 https://hpo.jax.org/app/browse/search?q=FREM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608944 http://www.informatics.jax.org/searchtool/Search.do?query=FREM1&submit=Quick%0D%11432ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FREM1 rs2779500 0.500799 0.5671 0.6009 0.23 3 13 exonic exonic exonic FREM1 FREM1 ENSG00000164946 nonsynonymous SNV nonsynonymous SNV unknown FREM1:NM_144966:exon9:c.G1315C:p.V439L, FREM1:uc003zlm.3:exon9:c.G1315C:p.V439L, UNKNOWN Het;C>G 1350;89|67 Hom;C>G 4786;0|174 N N - 9 286593 286593 C A snp nonsynonymous SNV C289A P97T hydrophobic,neutral polar,hydrophilic,neutral DOCK8 Dock8 ENSG00000107099 dedicator of cytokinesis 8 chr9:214854-465259 This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010] Tobacco Use Disorder; Platelet Count; Heart Failure Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation. Factors involved in megakaryocyte development and platelet production GO:0001771;immunological synapse formation;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0036336;dendritic cell migration;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061485;memory T cell proliferation;IMP|GO:0070233;negative regulation of T cell apoptotic process;IEA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DOCK8 https://www.uniprot.org/uniprot/Q8NF50 https://hpo.jax.org/app/browse/search?q=DOCK8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611432 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK8&submit=Quick%0D%3575ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK8 rs529208 0.529752 0.4642 0.5206 0.62 8 13 exonic exonic exonic DOCK8 DOCK8 ENSG00000107099 nonsynonymous SNV nonsynonymous SNV unknown DOCK8:NM_203447:exon3:c.C289A:p.P97T,DOCK8:NM_001190458:exon2:c.C85A:p.P29T,DOCK8:NM_001193536:exon2:c.C85A:p.P29T, DOCK8:uc010mgv.3:exon2:c.C85A:p.P29T,DOCK8:uc010mgt.3:exon2:c.C85A:p.P29T,DOCK8:uc011lls.1:exon3:c.C289A:p.P97T,DOCK8:uc003zgg.3:exon2:c.C85A:p.P29T,DOCK8:uc003zgf.2:exon3:c.C289A:p.P97T,DOCK8:uc022bcu.1:exon2:c.C85A:p.P29T, UNKNOWN Het;C>A 709;74|38 Hom;C>A 2919;0|109 N N - 9 33625082 33625082 G C snp nonsynonymous SNV G811C A271P aliphatic,hydrophobic,neutral hydrophobic,neutral ANXA2P2 rs10758216 0.297724 0 0.3553 1 0 0 ncRNA_exonic exonic ncRNA_exonic ANXA2P2 ANXA2P2 ENSG00000231991 Na nonsynonymous SNV Na Na ANXA2P2:uc010mjx.3:exon1:c.G811C:p.A271P, Na Het;G>C 2549;83|100 Hom;G>C 5800;0|200 N N - 9 33941759 33941759 T C snp nonsynonymous SNV A1817G N606S polar,hydrophilic,neutral polar,hydrophilic,neutral UBAP2 Ubap2 ENSG00000137073 ubiquitin associated protein 2 chr9:33921691-34048947 The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Frontotemporal Lobar Degeneration GO:0010628;positive regulation of gene expression;IBA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA GO:0003723;RNA binding;IDA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/UBAP2 https://www.uniprot.org/uniprot/Q5T6F2 http://www.informatics.jax.org/searchtool/Search.do?query=UBAP2&submit=Quick%0D%7464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBAP2 rs307658 0.370807 0.4114 0.3741 0.23 3 13 exonic exonic exonic UBAP2 UBAP2 ENSG00000137073 nonsynonymous SNV nonsynonymous SNV unknown UBAP2:NM_018449:exon16:c.A1817G:p.N606S,UBAP2:NM_001282529:exon12:c.A1016G:p.N339S, UBAP2:uc011loe.1:exon10:c.A1082G:p.N361S,UBAP2:uc011lof.1:exon16:c.A1592G:p.N531S,UBAP2:uc011log.1:exon14:c.A1655G:p.N552S,UBAP2:uc011lod.1:exon12:c.A1016G:p.N339S,UBAP2:uc003zts.3:exon4:c.A716G:p.N239S,UBAP2:uc003ztr.2:exon14:c.A1433G:p.N478S,UBAP2:uc011loc.1:exon15:c.A1544G:p.N515S,UBAP2:uc003ztq.1:exon16:c.A1817G:p.N606S, UNKNOWN Het;T>C 1537;119|81 Hom;T>C 5041;0|181 N N - 9 35870001 35870001 T C snp nonsynonymous SNV A398G H133R aromatic,polar,hydrophilic,charged(+) polar,hydrophilic,charged(+) OR13J1 Olfr71 ENSG00000168828 olfactory receptor family 13 subfamily J member 1 chr9:35869375-35870461 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR13J1 http://www.informatics.jax.org/searchtool/Search.do?query=OR13J1&submit=Quick%0D%12355ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR13J1 rs7044405 0.645767 0.6520 0.6192 0.15 2 13 exonic exonic exonic OR13J1 OR13J1 ENSG00000168828 nonsynonymous SNV nonsynonymous SNV unknown OR13J1:NM_001004487:exon1:c.A398G:p.H133R, OR13J1:uc011lph.2:exon1:c.A398G:p.H133R, UNKNOWN Het;T>C 2600;119|128 Hom;T>C 6752;2|244 N N - 9 712060 712060 G C snp nonsynonymous SNV G1294C E432Q polar,hydrophilic,charged(-) polar,hydrophilic,neutral KANK1 Kank1 ENSG00000107104 KN motif and ankyrin repeat domains 1 chr9:470291-746105 The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014] multiple sclerosis; Asthma; Multiple Sclerosis; Tobacco Use Disorder GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010977;negative regulation of neuron projection development;IDA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0030837;negative regulation of actin filament polymerization;IDA|GO:0035024;negative regulation of Rho protein signal transduction;IMP|GO:0035413;positive regulation of catenin import into nucleus;IMP|GO:0046627;negative regulation of insulin receptor signaling pathway;IMP|GO:0090303;positive regulation of wound healing;IMP|GO:1900025;negative regulation of substrate adhesion-dependent cell spreading;IDA|GO:1900028;negative regulation of ruffle assembly;IDA|GO:2000114;regulation of establishment of cell polarity;IMP|GO:2000393;negative regulation of lamellipodium morphogenesis;IDA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KANK1 https://www.uniprot.org/uniprot/Q14678 https://hpo.jax.org/app/browse/search?q=KANK1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607704 http://www.informatics.jax.org/searchtool/Search.do?query=KANK1&submit=Quick%0D%3576ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KANK1 rs4465020 0.235224 0.2880 0.3392 0.23 3 13 exonic exonic exonic KANK1 KANK1 ENSG00000107104 nonsynonymous SNV nonsynonymous SNV unknown KANK1:NM_001256876:exon7:c.G1294C:p.E432Q,KANK1:NM_001256877:exon4:c.G1294C:p.E432Q,KANK1:NM_015158:exon3:c.G1294C:p.E432Q,KANK1:NM_153186:exon2:c.G820C:p.E274Q, KANK1:uc003zgs.2:exon2:c.G820C:p.E274Q,KANK1:uc003zgr.1:exon2:c.G820C:p.E274Q,KANK1:uc003zgp.1:exon4:c.G1294C:p.E432Q,KANK1:uc003zgq.2:exon2:c.G820C:p.E274Q,KANK1:uc003zgl.2:exon7:c.G1294C:p.E432Q,KANK1:uc003zgo.1:exon3:c.G1294C:p.E432Q,KANK1:uc003zgn.2:exon3:c.G1294C:p.E432Q,KANK1:uc031tct.1:exon4:c.G1294C:p.E432Q,KANK1:uc003zgm.4:exon3:c.G1294C:p.E432Q, UNKNOWN Het;G>C 1331;82|62 Hom;G>C 3241;2|108 N N - 9 7170006 7170006 G A snp nonsynonymous SNV G3110A S1037N polar,hydrophilic,neutral polar,hydrophilic,neutral KDM4C Kdm4c ENSG00000107077 lysine demethylase 4C chr9:6720863-7175648 This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Myocardial Infarction; Blood Pressure; Lipoproteins; Carcinoma, Squamous Cell|Esophageal Neoplasms; Body Composition; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Heart Failure; Schizophrenia; Body Mass Index; Heart Rate; Tobacco Use Disorder; Response to radiation; autism; Triglycerides; Bone Density Mice homozygous for a null gene trap allele cannot be produced likely due to embryonic lethality. Mice heterozygous for a null gene trap allele exhibit reduced body weight and lower incidence and multiplicity of both benign and malignant tumors in mice treated with DMBA and TPA. Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 GO:0001825;blastocyst formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0033169;histone H3-K9 demethylation;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0055114;oxidation-reduction process;IEA|GO:1900113;negative regulation of histone H3-K9 trimethylation;IEA|GO:2000036;regulation of stem cell population maintenance;IEA|GO:2000736;regulation of stem cell differentiation;IEA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005721;pericentric heterochromatin;IEA GO:0003682;chromatin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0032452;histone demethylase activity;EXP|GO:0032454;histone demethylase activity (H3-K9 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0050681;androgen receptor binding;IPI|GO:0051213;dioxygenase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KDM4C https://www.uniprot.org/uniprot/Q9H3R0 https://www.ncbi.nlm.nih.gov/omim/?term=605469 http://www.informatics.jax.org/searchtool/Search.do?query=KDM4C&submit=Quick%0D%3574ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KDM4C rs7022348 0.133187 0.2102 0.2083 0.18 2 11 exonic exonic exonic KDM4C KDM4C ENSG00000107077 nonsynonymous SNV nonsynonymous SNV unknown KDM4C:NM_001146694:exon21:c.G3110A:p.S1037N, KDM4C:uc003zkg.3:exon21:c.G3110A:p.S1037N, UNKNOWN Het;G>A 120;4|5 Hom;G>A 109;0|4 N N - 9 78790153 78790153 A AATGG indel frameshift substitution 2008_2008delinsAATGG PCSK5 Pcsk5 ENSG00000099139 proprotein convertase subtilisin/kexin type 5 chr9:78505560-78977255 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014] null; Dehydroepiandrosterone; Type 2 Diabetes| edema | rosiglitazone; Body Height; Multiple Sclerosis Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5. Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia. Assembly of active LPL and LIPC lipase complexes GO:0001822;kidney development;IMP|GO:0002001;renin secretion into blood stream;IEP|GO:0003279;cardiac septum development;IEA|GO:0006465;signal peptide processing;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;ISS|GO:0007565;female pregnancy;IEA|GO:0007566;embryo implantation;ISS|GO:0009952;anterior/posterior pattern specification;IMP|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0019058;viral life cycle;IEP|GO:0030323;respiratory tube development;ISS|GO:0032455;nerve growth factor processing;TAS|GO:0035108;limb morphogenesis;ISS|GO:0042089;cytokine biosynthetic process;ISS|GO:0043043;peptide biosynthetic process;IDA|GO:0048566;embryonic digestive tract development;IMP|GO:0048706;embryonic skeletal system development;IMP|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0060976;coronary vasculature development;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;ISS|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;ISS GO:0004175;endopeptidase activity;EXP|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/PCSK5 https://www.uniprot.org/uniprot/Q92824 https://www.ncbi.nlm.nih.gov/omim/?term=600488 http://www.informatics.jax.org/searchtool/Search.do?query=PCSK5&submit=Quick%0D%2296ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK5 rs781082708 0 0 0.0070 1 0 0 intronic exonic exonic PCSK5 PCSK5 ENSG00000099139 Na frameshift substitution unknown Na PCSK5:uc004ajy.2:exon14:c.2008_2008delinsAATGG, UNKNOWN Het;+ATGG 60;2|3 Hom;+ATGG 242;1|8 N N - 9 78969059 78969059 C A snp nonsynonymous SNV C5097A D1699E polar,hydrophilic,charged(-) polar,hydrophilic,charged(-) PCSK5 Pcsk5 ENSG00000099139 proprotein convertase subtilisin/kexin type 5 chr9:78505560-78977255 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014] null; Dehydroepiandrosterone; Type 2 Diabetes| edema | rosiglitazone; Body Height; Multiple Sclerosis Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5. Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia. Assembly of active LPL and LIPC lipase complexes GO:0001822;kidney development;IMP|GO:0002001;renin secretion into blood stream;IEP|GO:0003279;cardiac septum development;IEA|GO:0006465;signal peptide processing;IDA|GO:0006508;proteolysis;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0007507;heart development;ISS|GO:0007565;female pregnancy;IEA|GO:0007566;embryo implantation;ISS|GO:0009952;anterior/posterior pattern specification;IMP|GO:0016485;protein processing;IDA|GO:0016486;peptide hormone processing;IDA|GO:0019058;viral life cycle;IEP|GO:0030323;respiratory tube development;ISS|GO:0032455;nerve growth factor processing;TAS|GO:0035108;limb morphogenesis;ISS|GO:0042089;cytokine biosynthetic process;ISS|GO:0043043;peptide biosynthetic process;IDA|GO:0048566;embryonic digestive tract development;IMP|GO:0048706;embryonic skeletal system development;IMP|GO:0051004;regulation of lipoprotein lipase activity;TAS|GO:0060976;coronary vasculature development;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;ISS|GO:0005794;Golgi apparatus;IDA|GO:0005796;Golgi lumen;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030141;secretory granule;ISS GO:0004175;endopeptidase activity;EXP|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/PCSK5 https://www.uniprot.org/uniprot/Q92824 https://www.ncbi.nlm.nih.gov/omim/?term=600488 http://www.informatics.jax.org/searchtool/Search.do?query=PCSK5&submit=Quick%0D%2296ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCSK5 rs7036921 0.232029 0 0.3334 0.09 1 11 exonic exonic exonic PCSK5 PCSK5 ENSG00000099139 nonsynonymous SNV nonsynonymous SNV unknown PCSK5:NM_001190482:exon36:c.C5097A:p.D1699E, PCSK5:uc004akc.2:exon36:c.C5097A:p.D1699E, UNKNOWN Het;C>A 2256;136|110 Hom;C>A 5862;0|214 N N - 9 86504005 86504005 C T snp nonsynonymous SNV G1973A G658E aliphatic,neutral polar,hydrophilic,charged(-) KIF27 Kif27 ENSG00000165115 kinesin family member 27 chr9:86451613-86536342 This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9. [provided by RefSeq, Dec 2012] Homozygous mice are small and die by 8 weeks and exhibit hydrocephalus, rhinitis and otitis media. Kinesins GO:0003351;epithelial cilium movement;IEA|GO:0007018;microtubule-based movement;IBA|GO:0021591;ventricular system development;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA http://www.genecards.org/index.php?path=/Search/keyword/KIF27 https://www.ncbi.nlm.nih.gov/omim/?term=611253 http://www.informatics.jax.org/searchtool/Search.do?query=KIF27&submit=Quick%0D%11469ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF27 rs13289566 0.17472 0.2285 0.2007 0.08 1 13 exonic exonic exonic KIF27 KIF27 ENSG00000165115 nonsynonymous SNV nonsynonymous SNV unknown KIF27:NM_001271927:exon7:c.G1973A:p.G658E,KIF27:NM_001271928:exon7:c.G1973A:p.G658E,KIF27:NM_017576:exon7:c.G1973A:p.G658E, KIF27:uc010mpw.4:exon7:c.G1973A:p.G658E,KIF27:uc010mpx.4:exon7:c.G1973A:p.G658E,KIF27:uc004ana.4:exon7:c.G1973A:p.G658E, UNKNOWN Het;C>T 477;49|25 Hom;C>T 1744;2|66 N N - 9 90388539 90388539 T A snp nonsynonymous SNV T399A N133K polar,hydrophilic,neutral polar,hydrophilic,charged(+) CTSL3P rs10735592 0.735024 0.6953 0.7098 1 0 0 ncRNA_exonic exonic ncRNA_exonic CTSL3P CTSL3P ENSG00000188029 Na nonsynonymous SNV Na Na CTSL3P:uc004apm.1:exon3:c.T399A:p.N133K, Na Het;T>A 638;40|31 Hom;T>A 1196;0|45 N N - 9 91262343 91262343 A ATGG indel nonframeshift substitution 300_300delinsCCAT LOC286238 rs397759669 0.451877 0.5071 0.4038 1 0 0 exonic exonic ncRNA_exonic LOC286238 LOC286238 ENSG00000228189 nonframeshift substitution nonframeshift substitution Na LOC286238:NM_001100111:exon2:c.300_300delinsCCAT, LOC286238:uc010mql.1:exon2:c.300_300delinsCCAT, Na Het;+TGG 2329;65|61 Hom;+TGG 4762;0|104 N N - 9 92003679 92003679 C T snp nonsynonymous SNV G979A A327T aliphatic,hydrophobic,neutral polar,hydrophilic,neutral SEMA4D Sema4d ENSG00000187764 semaphorin 4D chr9:91975702-92113045 Tobacco Use Disorder; Alzheimer's disease Mice homozygous for disruptions in this gene display functional defects in their immune system but are normal in other systems of the body. Other semaphorin interactions GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0006955;immune response;TAS|GO:0007155;cell adhesion;TAS|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0008360;regulation of cell shape;IMP|GO:0010693;negative regulation of alkaline phosphatase activity;IMP|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0030154;cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IDA|GO:0031344;regulation of cell projection organization;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IMP|GO:0043931;ossification involved in bone maturation;IMP|GO:0045668;negative regulation of osteoblast differentiation;ISS|GO:0048672;positive regulation of collateral sprouting;IMP|GO:0048814;regulation of dendrite morphogenesis;IMP|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050732;negative regulation of peptidyl-tyrosine phosphorylation;ISS|GO:0050772;positive regulation of axonogenesis;IEA|GO:0070486;leukocyte aggregation;IMP|GO:0071526;semaphorin-plexin signaling pathway;IDA|GO:1900220;semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis;ISS GO:0005615;extracellular space;ISS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004872;receptor activity;IDA|GO:0004888;transmembrane signaling receptor activity;IMP|GO:0005102;receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0030215;semaphorin receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SEMA4D https://www.ncbi.nlm.nih.gov/omim/?term=601866 http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4D&submit=Quick%0D%15890ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4D rs11526468 0.22524 0.2125 0.2715 0.69 9 13 exonic exonic exonic SEMA4D SEMA4D ENSG00000187764 nonsynonymous SNV nonsynonymous SNV unknown SEMA4D:NM_006378:exon13:c.G979A:p.A327T,SEMA4D:NM_001142287:exon13:c.G979A:p.A327T, SEMA4D:uc004aqp.1:exon11:c.G979A:p.A327T,SEMA4D:uc004aqo.1:exon13:c.G979A:p.A327T,SEMA4D:uc011ltm.1:exon13:c.G979A:p.A327T, UNKNOWN Het;C>T 1433;90|72 Hom;C>T 3207;1|122 N N - 9 98209594 98209594 G A snp nonsynonymous SNV C3746T P1249L hydrophobic,neutral aliphatic,hydrophobic,neutral PTCH1 Ptch1 ENSG00000185920 patched 1 chr9:98205262-98279339 This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008] thyroid cancer; Adenocarcinoma|Colorectal Neoplasms; pulmonary function; Respiratory Function Tests; nevoid basal cell carcinoma syndrome associated; Chemokines; Carcinoma, Basal Cell|Skin Neoplasms; Cleft Lip|Cleft Palate; skin cancer, non-melanoma; Bone Mineral Density; Leukemia, Lymphocytic, Chronic, B-Cell; keratocystic odontogenic tumors; oral clefts; Body Mass Index; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Survival; Lung Diseases; Sleep Apnea, Obstructive; height; Height; Pancreatic Neoplasms; Carcinoma, Hepatocellular|Liver Neoplasms; Type 2 Diabetes| edema | rosiglitazone; proximal chromosome 9p to q and distal chromosome 9q; breast cancer; Body Height Homozygous null embryos die by day 10 with neural tube defects. Heterozygotes are large with excess cerebellar granule cell proliferation and sometimes, hindlimb defects and medulloblastomas. Hypomorphic and spontaneous mutants have reproductive defects. GLI proteins bind promoters of Hh responsive genes to promote transcription GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001709;cell fate determination;IEA|GO:0001841;neural tube formation;IEA|GO:0001843;neural tube closure;IEA|GO:0003007;heart morphogenesis;IEA|GO:0007165;signal transduction;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007346;regulation of mitotic cell cycle;IEA|GO:0007389;pattern specification process;IEA|GO:0007420;brain development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008544;epidermis development;IEA|GO:0008589;regulation of smoothened signaling pathway;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0009957;epidermal cell fate specification;IEA|GO:0010157;response to chlorate;IEA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0014070;response to organic cyclic compound;IEA|GO:0016485;protein processing;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021532;neural tube patterning;IMP|GO:0021904;dorsal/ventral neural tube patterning;IEA|GO:0021997;neural plate axis specification;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030879;mammary gland development;IEA|GO:0032355;response to estradiol;IEA|GO:0032526;response to retinoic acid;IEA|GO:0032880;regulation of protein localization;IEA|GO:0035108;limb morphogenesis;IMP|GO:0035137;hindlimb morphogenesis;IEA|GO:0040008;regulation of growth;IEA|GO:0040015;negative regulation of multicellular organism growth;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0043616;keratinocyte proliferation;IEA|GO:0045606;positive regulation of epidermal cell differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IMP|GO:0045879;negative regulation of smoothened signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0048568;embryonic organ development;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0051782;negative regulation of cell division;IEA|GO:0060037;pharyngeal system development;IMP|GO:0060603;mammary gland duct morphogenesis;IEA|GO:0060644;mammary gland epithelial cell differentiation;IEA|GO:0060831;smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:0061005;cell differentiation involved in kidney development;IEA|GO:0061053;somite development;IMP|GO:0071397;cellular response to cholesterol;IEA|GO:0072001;renal system development;IEP|GO:0072203;cell proliferation involved in metanephros development;IEA|GO:0072661;protein targeting to plasma membrane;IDA GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IDA|GO:0005901;caveola;IDA|GO:0005929;cilium;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030496;midbody;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044294;dendritic growth cone;IEA|GO:0044295;axonal growth cone;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0060170;ciliary membrane;TAS GO:0005113;patched binding;IEA|GO:0005119;smoothened binding;IPI|GO:0005515;protein binding;IPI|GO:0008158;hedgehog receptor activity;IEA|GO:0008201;heparin binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0030332;cyclin binding;IPI|GO:0032403;protein complex binding;IEA|GO:0097108;hedgehog family protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTCH1 https://hpo.jax.org/app/browse/search?q=PTCH1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601309 http://www.informatics.jax.org/searchtool/Search.do?query=PTCH1&submit=Quick%0D%15523ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTCH1 rs357564 0.396765 0.2993 0.3855 0.77 10 13 exonic exonic exonic PTCH1 PTCH1 ENSG00000185920 nonsynonymous SNV nonsynonymous SNV unknown PTCH1:NM_001083602:exon23:c.C3746T:p.P1249L,PTCH1:NM_001083607:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083606:exon23:c.C3491T:p.P1164L,PTCH1:NM_000264:exon23:c.C3944T:p.P1315L,PTCH1:NM_001083605:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083603:exon23:c.C3941T:p.P1314L,PTCH1:NM_001083604:exon23:c.C3491T:p.P1164L, PTCH1:uc010mrn.3:exon2:c.C320T:p.P107L,PTCH1:uc010mrr.3:exon23:c.C3746T:p.P1249L,PTCH1:uc004avk.4:exon23:c.C3944T:p.P1315L,PTCH1:uc004avm.4:exon23:c.C3941T:p.P1314L,PTCH1:uc004avl.4:exon23:c.C3491T:p.P1164L,PTCH1:uc010mrq.3:exon23:c.C3491T:p.P1164L,PTCH1:uc010mrp.3:exon23:c.C3491T:p.P1164L,PTCH1:uc010mro.3:exon23:c.C3491T:p.P1164L, UNKNOWN Het;G>A 1275;53|59 Hom;G>A 3455;0|125