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
RS2102527516 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome
RS2102527595 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS2102527910 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2102536359 FLVCR1 Health Risk Pathogenic —
RS2102536764 IRF6 Health Risk Pathogenic Popliteal pterygium syndrome, Van der Woude syndrome
RS2102536882 IRF6 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 6, susceptibility to
RS2102536939 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS2102537180 IRF6 Health Risk Likely pathogenic Van der Woude syndrome 1, Van der Woude syndrome 1
RS2102538157 CD46 Health Risk Likely pathogenic —
RS2102538567 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS2102541666 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS2102541856 CD46 Health Risk Pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS2102542129 CD46 Health Risk Likely pathogenic —
RS2102542809 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS2102542857 IRF6 Health Risk Likely pathogenic Orofacial cleft 6, susceptibility to
RS2102542868 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS2102545062 USH2A Health Risk Pathogenic —
RS2102545092 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102545129 USH2A Health Risk Pathogenic —
RS2102545206 USH2A Health Risk Pathogenic —
RS2102545572 USH2A Health Risk Pathogenic —
RS2102545764 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102545818 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2102546096 USH2A Health Risk Pathogenic —
RS2102546166 USH2A Health Risk Pathogenic —
RS2102546321 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102547896 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS2102548612 USH2A Health Risk Pathogenic —
RS2102548644 USH2A Health Risk Pathogenic —
RS2102549080 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2102549174 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2102551463 FLVCR1 Health Risk Pathogenic —
RS2102551610 USH2A Health Risk Likely pathogenic —
RS2102551941 USH2A Health Risk Pathogenic —
RS2102552084 USH2A Health Risk Pathogenic —
RS2102552416 CD46 Health Risk Pathogenic —
RS2102552865 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS2102553716 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS2102554196 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102554268 USH2A Health Risk Likely pathogenic —
RS2102554289 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102554465 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102554503 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102557481 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS2102559650 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102559671 USH2A Health Risk Pathogenic —
RS2102560621 CACNA1S Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS2102561067 USH2A Health Risk Pathogenic —
RS2102561385 KCNH1 Health Risk Pathogenic —
RS2102561817 KCNH1 Health Risk Conflicting classifications of pathogenicity —
RS2102561827 KCNH1 Health Risk Pathogenic/Likely pathogenic Temple-Baraitser syndrome, Temple-Baraitser syndrome
RS2102562245 CACNA1S Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2102564388 CENPF Health Risk Pathogenic —
RS2102565260 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2102565369 USH2A Health Risk Pathogenic —
RS2102565390 USH2A Health Risk Pathogenic —
RS2102565547 FLVCR1 Health Risk Likely pathogenic —
RS2102566615 CENPF Health Risk Likely pathogenic —
RS2102566666 CENPF Health Risk Likely pathogenic —
RS2102568016 EPRS1 Health Risk Pathogenic —
RS2102568882 FLVCR1 Health Risk Pathogenic —
RS2102570274 FLVCR1 Health Risk Pathogenic —
RS2102572705 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2102573564 CACNA1S Health Risk Likely pathogenic —
RS2102582533 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS2102584825 RIT1 Health Risk Pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS2102590945 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 8, Noonan syndrome 8
RS2102590960 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome 8
RS2102594816 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2102594880 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2102598897 CD46 Health Risk Pathogenic —
RS2102604634 FBXO28 Health Risk Pathogenic Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100
RS2102606427 USH2A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2102606531 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2102610607 USH2A Health Risk Pathogenic —
RS2102610892 USH2A Health Risk Pathogenic —
RS2102610898 USH2A Health Risk Pathogenic —
RS2102611118 USH2A Health Risk Pathogenic —
RS2102625236 USH2A Health Risk Pathogenic —
RS2102628609 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2102628622 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2102628675 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2102629804 DARS2 Health Risk Pathogenic —
RS2102630058 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2102630084 TGFB2 Health Risk Pathogenic Atrial septal defect 1, Atrial septal defect 1
RS2102630133 TGFB2 Health Risk Pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2102630468 USH2A Health Risk Pathogenic —
RS2102630480 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2102630527 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102630641 USH2A Health Risk Pathogenic —
RS2102630643 USH2A Health Risk Pathogenic —
RS2102630646 USH2A Health Risk Pathogenic —
RS2102630677 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2102630722 USH2A Health Risk Pathogenic —
RS2102634627 USH2A Health Risk Pathogenic —
RS2102634730 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome
RS2102636006 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome type 2A
RS2102636047 USH2A Health Risk Pathogenic —
RS2102636056 DARS2 Health Risk Pathogenic Spastic ataxia, Spastic ataxia
RS2102636059 USH2A Health Risk Pathogenic —
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