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
RS2118433425 RORB Health Risk Pathogenic Epilepsy, idiopathic generalized
RS2118444312 GNAQ Health Risk Pathogenic Familial multiple nevi flammei, Familial multiple nevi flammei
RS2118446474 CEP78 Health Risk Pathogenic —
RS2118448441 SPTLC1 Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS2118450495 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2118458606 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118460550 CEP78 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 1, Retinal dystrophy
RS2118460945 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118461277 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118462668 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2118463065 RORB Health Risk Pathogenic —
RS2118466034 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118466784 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118467340 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2118467700 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS2118467979 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS2118471978 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118472215 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118472793 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118494165 INVS Health Risk Pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS2118510935 RORB Health Risk Pathogenic —
RS2118510942 RORB Health Risk Likely pathogenic —
RS2118516548 RORB Health Risk Conflicting classifications of pathogenicity —
RS2118524756 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS2118525941 RORB Health Risk Likely pathogenic —
RS2118532750 RORB Health Risk Likely pathogenic —
RS2118537234 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118538755 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118539976 UGCG Health Risk Conflicting classifications of pathogenicity Congenital nonbullous ichthyosiform erythroderma, Congenital nonbullous ichthyosiform erythroderma
RS2118540467 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118543208 PTCH1 Health Risk Pathogenic —
RS2118543334 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118544070 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118545274 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118545746 RORB Health Risk Pathogenic —
RS2118545757 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy
RS2118545880 RORB Health Risk Likely pathogenic Epilepsy, idiopathic generalized
RS2118546196 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118547596 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118548727 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118550508 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS2118550859 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118563240 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118583363 RORB Health Risk Likely pathogenic —
RS2118616453 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS2118626297 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS2118629582 ROR2 Health Risk Pathogenic —
RS2118630690 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118643983 PSAT1 Health Risk Likely pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS2118645585 ROR2 Health Risk Pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS2118681567 APTX Health Risk Pathogenic —
RS2118681775 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS2118683614 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS2118683688 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS2118686800 APTX Health Risk Pathogenic Ataxia, early-onset
RS2118688818 APTX Health Risk Pathogenic Ataxia, early-onset
RS2118699409 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS2118702517 ROR2 Health Risk Pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS2118707001 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118711532 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118711701 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS2118712174 TGFBR1 Health Risk Likely pathogenic Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS2118717103 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118734279 TRPM6 Health Risk Pathogenic —
RS2118762244 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2118780524 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS2118781593 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2118799345 INVS Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2118803591 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118803615 TGFBR1 Health Risk Likely pathogenic —
RS2118804089 TGFBR1 Health Risk Likely pathogenic —
RS2118804176 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118805136 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118805586 TGFBR1 Health Risk Likely pathogenic Multiple self-healing squamous epithelioma, Multiple self-healing squamous epithelioma
RS2118805827 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118806684 APTX Health Risk Pathogenic —
RS2118807458 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118823223 LMX1B Health Risk Pathogenic —
RS2118823366 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS2118823374 LMX1B Health Risk Pathogenic —
RS2118823413 LMX1B Health Risk Pathogenic —
RS2118823701 LMX1B Health Risk Pathogenic —
RS2118823763 LMX1B Health Risk Pathogenic —
RS2118823819 LMX1B Health Risk Pathogenic —
RS2118823895 LMX1B Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2118823917 LMX1B Health Risk Likely pathogenic —
RS2118826261 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS2118827924 TGFBR1 Health Risk Likely pathogenic Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
RS2118832071 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2118832096 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2118832404 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia
RS2118832409 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia
RS2118838012 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS2118839419 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2118839436 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS2118840018 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118840030 SPTLC1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis 27
RS2118841181 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2118841816 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2118848019 ROR2 Health Risk Conflicting classifications of pathogenicity —
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