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
RS2118848876 GRHPR Health Risk Pathogenic —
RS2118849212 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS2118857318 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118858700 TGFBR1 Health Risk Likely pathogenic Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS2118863163 GRHPR Health Risk Pathogenic —
RS2118863170 GRHPR Health Risk Pathogenic —
RS2118864015 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia type I
RS2118864334 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2118864687 ABCA1 Health Risk Pathogenic —
RS2118865591 GRHPR Health Risk Pathogenic —
RS2118873472 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118873547 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118874002 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118874752 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118875429 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118875526 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118876177 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2118876450 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118878946 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118879154 PTCH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2118879343 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118879524 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118880072 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118880115 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2118880130 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2118880152 GRHPR Health Risk Pathogenic —
RS2118880170 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2118880266 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia type I
RS2118880626 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2118881561 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118907171 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2118908187 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2118910332 PTCH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2118910919 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2118912529 ABCA1 Health Risk Pathogenic —
RS2118925108 ELP1 Health Risk Pathogenic —
RS2118927777 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS2118933859 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2118934288 ELP1 Health Risk Pathogenic —
RS2118936334 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2118938912 ELP1 Health Risk Pathogenic —
RS2118966321 TOPORS Health Risk Likely pathogenic —
RS2118966836 TOPORS Health Risk Pathogenic —
RS2118968698 TOPORS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2118977758 EXOSC3 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2118980158 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2118980242 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2118986578 LMX1B Health Risk Pathogenic —
RS2118986608 LMX1B Health Risk Pathogenic —
RS2118986658 LMX1B Health Risk Pathogenic —
RS2118986709 LMX1B Health Risk Pathogenic —
RS2118986877 LMX1B Health Risk Pathogenic —
RS2118986919 LMX1B Health Risk Pathogenic —
RS2118986952 LMX1B Health Risk Likely pathogenic —
RS2118986969 LMX1B Health Risk Pathogenic —
RS2118987040 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS2118987177 LMX1B Health Risk Pathogenic —
RS2118991726 LMX1B Health Risk Pathogenic —
RS2118991973 LMX1B Health Risk Likely pathogenic —
RS2118992231 LMX1B Health Risk Pathogenic —
RS2118992738 LMX1B Health Risk Pathogenic —
RS2118992752 LMX1B Health Risk Pathogenic —
RS2118992878 LMX1B Health Risk Pathogenic —
RS2118993320 LMX1B Health Risk Pathogenic —
RS2118997138 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella-like renal disease
RS2119013151 BAAT Health Risk Pathogenic Bile acid conjugation defect 1, Bile acid conjugation defect 1
RS2119034662 ABCA1 Health Risk Pathogenic —
RS2119062642 CEL Health Risk Likely pathogenic —
RS2119079745 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2119079774 SURF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS2119079909 SURF1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS2119079986 SURF1 Health Risk Pathogenic —
RS2119080054 SURF1 Health Risk Likely pathogenic —
RS2119081117 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2119081217 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2119081408 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2119083367 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2119083553 SURF1 Health Risk Pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS2119085025 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2119085056 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2119085074 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2119088472 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2119089032 SURF1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS2119186288 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy, Congenital generalized lipodystrophy
RS2119445087 FAS Health Risk Pathogenic/Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2119445224 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2119445406 FAS Health Risk Likely pathogenic —
RS2119446096 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2119446366 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2119446879 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2119448150 FAS Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2119807637 CCDC186 Health Risk Pathogenic 10 conditions, 10 conditions
RS2119818223 SOX6 Health Risk Pathogenic Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome
RS2119818229 SOX6 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2119819668 SOX6 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2119905910 FGF3 Health Risk Likely pathogenic Deafness with labyrinthine aplasia, microtia
RS2119929795 FGF3 Health Risk Pathogenic/Likely pathogenic —
RS2120049760 LRRC32 Health Risk Likely pathogenic Cleft palate, proliferative retinopathy
RS2120355008 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2120360235 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
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