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 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 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 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