SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2535934593 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535935206 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2535936923 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535938248 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2535939866 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
RS2535940744 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2535943835 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535950915 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535951128 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535951148 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535968541 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535968819 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535968881 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535969062 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535969485 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535969504 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535972260 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535972691 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535974279 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535976216 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535976521 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2535976753 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2535977006 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535978167 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535978637 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535978700 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535978888 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535979060 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535979432 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535980723 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535986164 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535986332 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535986673 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535986824 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535986922 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535986999 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535994640 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2535995120 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535996014 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535998776 BRAF Health Risk Pathogenic Lymphatic malformation, Lymphatic malformation
RS2536003312 KRIT1 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536003797 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation 1
RS2536003869 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536004935 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536005162 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536005244 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536005737 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation 1
RS2536005944 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536006365 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536007419 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 7
RS2536008648 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2536009025 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536011438 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536012090 KRIT1 Health Risk Pathogenic KRIT1-related disorder, KRIT1-related disorder
RS2536012100 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536012106 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536012185 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536012310 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536012401 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536012456 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, KRIT1-related disorder
RS2536015460 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2536017434 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536018359 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536019955 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536020645 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536021484 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536025886 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536029962 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536031186 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536031400 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536033601 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536035606 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536035612 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536041791 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536042016 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536042069 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536042735 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536042810 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536043103 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536043142 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536043255 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536043465 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536049305 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536049676 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536049813 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536049949 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536049981 KCNU1 Health Risk Pathogenic Spermatogenic failure 79, Spermatogenic failure 79
RS2536049982 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536052433 CEP41 Health Risk Likely pathogenic Joubert syndrome 15, Joubert syndrome 15
RS2536056612 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536056686 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536056771 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536060147 CEP41 Health Risk Pathogenic Joubert syndrome 15, Joubert syndrome 15
RS2536061924 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536065778 LMOD2 Health Risk Likely pathogenic Cardiomyopathy, dilated
RS2536071477 LMOD2 Health Risk Likely pathogenic Cardiomyopathy, dilated
RS2536074802 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2536080997 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2536081390 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2536081428 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
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