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
RS61750441 ORC4 Health Risk Conflicting classifications of pathogenicity ORC4-related disorder, ORC4-related disorder
RS61750457 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61750459 RS1 Health Risk Pathogenic —
RS61750560 ABCA4 Health Risk Pathogenic —
RS61750561 ABCA4 Health Risk Pathogenic —
RS61750562 ABCA4 Health Risk Pathogenic Retinal dystrophy, ABCA4-related retinopathy
RS61750563 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61750564 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19
RS61750566 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61750567 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa
RS61750568 ABCA4 Health Risk Likely pathogenic —
RS61750569 ABCA4 Health Risk Pathogenic Retinal dystrophy, ABCA4-related retinopathy
RS61750571 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Retinal dystrophy
RS61750573 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61750574 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61750575 ABCA4 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 3, Stargardt disease
RS61750577 VWF Health Risk Pathogenic Hereditary von Willebrand disease, von Willebrand disease type 2
RS61750579 VWF Health Risk Likely pathogenic Von Willebrand disease type 2A, von Willebrand disease type 2
RS61750580 VWF Health Risk Pathogenic von Willebrand disease type 2, Hereditary von Willebrand disease
RS61750584 VWF Health Risk Pathogenic Von Willebrand disease type 2A, Hereditary von Willebrand disease
RS61750585 VWF Health Risk Pathogenic Von Willebrand disease type 2A, von Willebrand disease type 2
RS61750588 VWF Health Risk Conflicting classifications of pathogenicity —
RS61750593 VWF Health Risk Likely pathogenic von Willebrand disease type 2, von Willebrand disease type 2
RS61750595 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 1
RS61750596 VWF Health Risk Likely pathogenic von Willebrand disease type 2, von Willebrand disease type 2
RS61750601 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, von Willebrand disease type 1
RS61750602 VWF Health Risk Pathogenic —
RS61750603 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 2, VWF-related disorder
RS61750604 VWF Health Risk Conflicting classifications of pathogenicity Abnormality of coagulation, VWF-related disorder
RS61750605 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS61750606 VWF Health Risk Pathogenic von Willebrand disease type 3, See cases
RS61750610 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS61750612 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 1
RS61750614 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61750617 VWF Health Risk Pathogenic —
RS61750620 VWF Health Risk Pathogenic/Likely pathogenic von Willebrand disease type 1, von Willebrand disorder
RS61750623 VWF Health Risk Pathogenic Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS61750624 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, VWF-related disorder
RS61750626 VWF Health Risk Pathogenic/Likely pathogenic von Willebrand disease type 1, von Willebrand disease type 3
RS61750630 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61750633 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS61750636 ABCA4 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS61750637 ABCA4 Health Risk Pathogenic —
RS61750638 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa
RS61750639 ABCA4 Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS61750641 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19
RS61750642 ABCA4 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS61750643 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61750644 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Inborn genetic diseases
RS61750645 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS61750646 ABCA4 Health Risk Conflicting classifications of pathogenicity Stargardt disease, Stargardt disease
RS61750648 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61750649 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61750650 ABCA4 Health Risk Pathogenic —
RS61750651 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, ABCA4-related retinopathy
RS61750652 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Stargardt disease
RS61750653 ABCA4 Health Risk Pathogenic ABCA4-related disorder, Retinitis pigmentosa
RS61750654 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Blindness
RS61750655 ABCA4 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS61750658 ABCA4 Health Risk Pathogenic Stargardt disease, Cone-rod dystrophy 3
RS61750659 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61750815 PTPN13 Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, PTPN13-related disorder
RS61750844 DLL4 Health Risk Pathogenic Adams-Oliver syndrome, Adams-Oliver syndrome 6
RS61750965 AK2 Health Risk Conflicting classifications of pathogenicity Reticular dysgenesis, AK2-related disorder
RS61750979 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS61751009 ZMPSTE24 Health Risk Pathogenic —
RS61751010 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS61751032 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS61751035 RPS6KC1 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS61751045 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS61751056 CYP26B1 Health Risk Conflicting classifications of pathogenicity —
RS61751140 CYP11B1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS61751154 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS61751223 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 11
RS61751262 ABCA4 Health Risk Pathogenic Retinal dystrophy, Stargardt disease
RS61751263 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19
RS61751265 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS61751266 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis
RS61751268 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS61751270 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 13
RS61751271 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS61751276 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinal dystrophy
RS61751277 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS61751279 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS61751281 RPE65 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 20
RS61751282 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS61751286 VWF Health Risk Pathogenic/Likely pathogenic Hereditary von Willebrand disease, Thrombocytopenia
RS61751288 VWF Health Risk Pathogenic/Likely pathogenic von Willebrand disease type 3, Hereditary von Willebrand disease
RS61751294 VWF Health Risk Likely pathogenic —
RS61751296 VWF Health Risk Pathogenic von Willebrand disease type 3, Hereditary von Willebrand disease
RS61751297 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61751298 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 1, von Willebrand disease type 3
RS61751301 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disorder
RS61751302 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 2, von Willebrand disease type 1
RS61751303 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61751304 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61751305 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61751310 VWF Health Risk Pathogenic Von Willebrand disease type 2A, Von Willebrand disease type 2A
RS61751311 VWF Health Risk Pathogenic Von Willebrand disease type 2A, Von Willebrand disease type 2A
RS61751361 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
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