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
RS2489786046 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489786253 GNE Health Risk Pathogenic/Likely pathogenic Sialuria, GNE myopathy
RS2489786273 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS2489786751 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489786839 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489790262 ADNP Health Risk Pathogenic ADNP-related disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2489791629 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489800559 TRAPPC9 Health Risk Pathogenic —
RS2489805216 TRAPPC9 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 13
RS2489806092 TG Health Risk Pathogenic —
RS2489810812 TG Health Risk Pathogenic —
RS2489811827 GNE Health Risk Pathogenic —
RS2489814330 CEP78 Health Risk Pathogenic —
RS2489814663 TMC1 Health Risk Pathogenic —
RS2489821129 TG Health Risk Pathogenic —
RS2489821623 TG Health Risk Pathogenic —
RS2489822333 TG Health Risk Pathogenic —
RS2489825393 TG Health Risk Pathogenic —
RS2489827477 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2489827712 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2489834670 TMC1 Health Risk Pathogenic —
RS2489838141 CEP78 Health Risk Pathogenic —
RS2489838840 CEP78 Health Risk Pathogenic —
RS2489844219 TG Health Risk Likely pathogenic —
RS2489845408 TG Health Risk Pathogenic —
RS2489848391 TG Health Risk Pathogenic —
RS2489851830 TG Health Risk Pathogenic —
RS2489852945 TG Health Risk Pathogenic —
RS2489854722 TG Health Risk Pathogenic —
RS2489856065 TG Health Risk Pathogenic —
RS2489874915 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2489875061 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2489875170 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2489875713 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2489876069 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2489883042 TMC1 Health Risk Likely pathogenic TMC1-related disorder, TMC1-related disorder
RS2489883308 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489883381 TMC1 Health Risk Pathogenic —
RS2489883553 TMC1 Health Risk Pathogenic Deafness, Deafness
RS2489883718 TMC1 Health Risk Pathogenic —
RS2489883765 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS2489888242 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489888636 EXOSC3 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489890955 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489890979 EXOSC3 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489891724 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489891748 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489896470 TRPM6 Health Risk Likely pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS2489897834 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS2489901305 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2489915874 TMC1 Health Risk Pathogenic —
RS2489917857 TMC1 Health Risk Pathogenic —
RS2489918394 TMC1 Health Risk Likely pathogenic —
RS2489925983 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS2489926285 TMC1 Health Risk Pathogenic —
RS2489926306 TMC1 Health Risk Pathogenic —
RS2489926873 TMC1 Health Risk Likely pathogenic —
RS2489927459 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS2489933374 GNE Health Risk Likely pathogenic GNE myopathy, Sialuria
RS2489933518 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS2489957353 TG Health Risk Pathogenic —
RS2489957810 TMC1 Health Risk Likely pathogenic —
RS2489958072 TMC1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 36, Autosomal dominant nonsyndromic hearing loss 36
RS2489958331 TMC1 Health Risk Likely pathogenic —
RS2489966877 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS2489968400 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS2489968539 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS2489978728 TMC1 Health Risk Pathogenic —
RS2489984744 TMC1 Health Risk Pathogenic —
RS2489998217 FOXE1 Health Risk Pathogenic Bamforth-Lazarus syndrome, Bamforth-Lazarus syndrome
RS2489999464 TMC1 Health Risk Pathogenic —
RS2490003475 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490003602 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490005816 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490005867 RORB Health Risk Pathogenic —
RS2490009707 TG Health Risk Pathogenic —
RS2490009847 TG Health Risk Pathogenic —
RS2490009978 TG Health Risk Pathogenic —
RS2490017645 TG Health Risk Pathogenic —
RS2490036502 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490036732 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490043463 HSD17B3 Health Risk Likely pathogenic —
RS2490049262 TG Health Risk Pathogenic —
RS2490055114 HSD17B3 Health Risk Pathogenic —
RS2490055816 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490055960 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490063420 HSD17B3 Health Risk Pathogenic —
RS2490065792 TG Health Risk Pathogenic —
RS2490066079 TG Health Risk Pathogenic —
RS2490066358 HSD17B3 Health Risk Pathogenic —
RS2490066698 TG Health Risk Pathogenic —
RS2490067069 TG Health Risk Pathogenic —
RS2490067471 TG Health Risk Likely pathogenic Autoimmune thyroid disease, susceptibility to
RS2490067570 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS2490067666 TRPM6 Health Risk Pathogenic —
RS2490077056 HSD17B3 Health Risk Likely pathogenic —
RS2490078901 TRPM6 Health Risk Pathogenic —
RS2490082729 HSD17B3 Health Risk Likely pathogenic —
RS2490085916 HSD17B3 Health Risk Pathogenic —
RS2490087284 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
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