| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, ILE692DEL | rs121907890 | 16 | 3243410 | TTAT | T | dbSNP_138;TSA=deletion;CLIN_pathogenic |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, LYS695ARG | rs104895094 | 16 | 3243403 | T | A | dbSNP_138;TSA=SNV;E_Multiple_observations;E_1000G;E_Cited;E_ESP;CLIN_not_provided;CLIN_pathogenic;MA=C;MAF=0.00321396;MAC=7;AA=T |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, MET694VAL | rs61752717 | 16 | 3243407 | T | A | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_Cited;E_ESP;CLIN_not_provided;CLIN_pathogenic;AA=T |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, MET680ILE, 2040G-C | rs28940580 | 16 | 3243447 | C | G | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=C |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, MET680ILE, 2040G-A | rs28940580 | 16 | 3243447 | C | G | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=C |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, LYS695ARG | rs104895094 | 16 | 3243403 | T | C | dbSNP_138;TSA=SNV;E_Multiple_observations;E_1000G;E_Cited;E_ESP;CLIN_not_provided;CLIN_pathogenic;MA=C;MAF=0.00321396;MAC=7;AA=T |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, MET694VAL | rs61752717 | 16 | 3243407 | T | C | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_Cited;E_ESP;CLIN_not_provided;CLIN_pathogenic;AA=T |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, MET680ILE, 2040G-C | rs28940580 | 16 | 3243447 | C | T | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=C |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, MET680ILE, 2040G-A | rs28940580 | 16 | 3243447 | C | T | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=C |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, GLU148VAL | rs104895076 | 16 | 3254625 | T | A | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;AA=T |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, GLU167ASP | rs104895079 | 16 | 3254567 | C | G | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=C |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, THR267ILE | rs104895081 | 16 | 3254268 | G | A | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;E_ESP;CLIN_pathogenic;AA=G |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, PHE479LEU | rs104895083 | 16 | 3247166 | G | C | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=G |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, ARG653HIS | rs104895085 | 16 | 3243529 | C | T | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=C |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, ARG761HIS | rs104895097 | 16 | 3243205 | C | T | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=C |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, MET694ILE | rs28940578 | 16 | 3243405 | C | T | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=C |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, VAL726ALA | rs28940579 | 16 | 3243310 | A | G | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_Cited;E_ESP;CLIN_pathogenic;MA=G;MAF=0.000459137;MAC=1;AA=A |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, GLU148GLN | rs3743930 | 16 | 3254626 | C | G | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_1000G;E_Cited;E_ESP;CLIN_pathogenic;MA=G;MAF=0.0821855;MAC=179;AA=C |
| MEFV | 608107 | FAMILIAL MEDITERRANEAN FEVER | MEFV, ALA744SER | rs61732874 | 16 | 3243257 | C | A | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_1000G;E_Cited;E_ESP;MA=A;MAF=0.00137741;MAC=3;AA=C |
