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
RS2464614456 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS2464623480 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS2464625113 CACNA1S Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS2464633669 CACNA1S Health Risk Likely pathogenic Congenital myopathy 18, Congenital myopathy 18
RS2464667395 IRF6 Health Risk Pathogenic Popliteal pterygium syndrome, Orofacial cleft 6
RS2464667462 IRF6 Health Risk Pathogenic Van der Woude syndrome, Popliteal pterygium syndrome
RS2464669962 IRF6 Health Risk Pathogenic IRF6-related condition, IRF6-related condition
RS2464670941 IRF6 Health Risk Likely pathogenic Popliteal pterygium syndrome, Van der Woude syndrome
RS2464671246 IRF6 Health Risk Likely pathogenic Van der Woude syndrome, Van der Woude syndrome
RS2464680974 IRF6 Health Risk Pathogenic Van der Woude syndrome, Popliteal pterygium syndrome
RS2464681125 WDR26 Health Risk Likely pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2464682567 WDR26 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2464682825 WDR26 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2464683449 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464683464 IRF6 Health Risk Likely pathogenic Van der Woude syndrome, Popliteal pterygium syndrome
RS2464683525 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Van der Woude syndrome 1
RS2464683585 IRF6 Health Risk Likely pathogenic —
RS2464683612 IRF6 Health Risk Likely pathogenic —
RS2464683620 IRF6 Health Risk Pathogenic Van der Woude syndrome, Popliteal pterygium syndrome
RS2464683705 IRF6 Health Risk Pathogenic Van der Woude syndrome, Popliteal pterygium syndrome
RS2464683838 IRF6 Health Risk Likely pathogenic Van der Woude syndrome, Popliteal pterygium syndrome
RS2464694698 IRF6 Health Risk Pathogenic Van der Woude syndrome, Popliteal pterygium syndrome
RS2464694798 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS2464713052 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome
RS2464713058 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464713516 USH2A Health Risk Pathogenic —
RS2464716295 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464716463 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464716697 USH2A Health Risk Pathogenic —
RS2464717019 USH2A Health Risk Pathogenic —
RS2464717157 USH2A Health Risk Pathogenic —
RS2464717162 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464717408 USH2A Health Risk Pathogenic —
RS2464717412 USH2A Health Risk Pathogenic —
RS2464717536 USH2A Health Risk Pathogenic —
RS2464717567 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464720371 WDR26 Health Risk Likely pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2464720512 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2464720573 WDR26 Health Risk Pathogenic —
RS2464729 TRIM43 Health Risk Conflicting classifications of pathogenicity —
RS2464737467 LAMB3 Health Risk Pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS2464739257 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2464743516 WDR26 Health Risk Pathogenic WDR26-related disorder, WDR26-related disorder
RS2464743563 WDR26 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2464746180 LAMB3 Health Risk Likely pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS2464747078 WDR26 Health Risk Likely pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2464747639 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2464747702 USH2A Health Risk Likely pathogenic —
RS2464747727 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464747975 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464748601 USH2A Health Risk Pathogenic —
RS2464748620 USH2A Health Risk Pathogenic —
RS2464748951 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464749701 USH2A Health Risk Pathogenic —
RS2464750058 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464750210 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464750216 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2464750998 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2464751124 USH2A Health Risk Pathogenic —
RS2464751128 USH2A Health Risk Pathogenic —
RS2464751272 USH2A Health Risk Pathogenic —
RS2464751321 USH2A Health Risk Likely pathogenic —
RS2464752319 USH2A Health Risk Pathogenic —
RS2464752372 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464752397 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464752483 USH2A Health Risk Pathogenic —
RS2464752503 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2464752818 LAMB3 Health Risk Pathogenic Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa gravis of Herlitz
RS2464753039 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464753059 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Amelogenesis imperfecta type 1A
RS2464753233 LAMB3 Health Risk Pathogenic —
RS2464753342 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464757224 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464757569 TGFB2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2464757983 TGFB2 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4
RS2464758031 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464758865 LAMB3 Health Risk Likely pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS2464762597 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2464763566 LAMB3 Health Risk Pathogenic —
RS2464763815 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464764083 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464764722 LAMB3 Health Risk Pathogenic —
RS2464764779 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464771286 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464771441 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2464771603 USH2A Health Risk Pathogenic —
RS2464771760 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2464772193 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464772258 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464772367 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464772723 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464772737 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464772765 USH2A Health Risk Likely pathogenic —
RS2464782700 USH2A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2464784089 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2464784781 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464784840 USH2A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2464785059 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464785092 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464785255 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
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