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
RS62635005 RPGR Health Risk Pathogenic RPGR-related retinopathy, RPGR-related retinopathy
RS62635009 RPGR Health Risk Pathogenic X-linked cone-rod dystrophy 1, Primary ciliary dyskinesia
RS62635010 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS62635011 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS62635013 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS62635014 RPGR Health Risk Pathogenic RPGR-related retinopathy, RPGR-related retinopathy
RS62635018 GPR143 Health Risk Pathogenic Ocular albinism, type I
RS62635024 GPR143 Health Risk Pathogenic/Likely pathogenic —
RS62635027 GPR143 Health Risk Pathogenic —
RS62635030 GPR143 Health Risk Pathogenic Ocular albinism, type I
RS62635031 GPR143 Health Risk Likely pathogenic —
RS62635037 GPR143 Health Risk Conflicting classifications of pathogenicity —
RS62635042 GPR143 Health Risk Likely pathogenic Albinism, Albinism
RS62635045 GPR143 Health Risk Pathogenic Albinism, GPR143-related foveal hypoplasia
RS62635046 GPR143 Health Risk Likely pathogenic —
RS62635048 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS62635288 CEP290 Health Risk Pathogenic Joubert syndrome 5, Leber congenital amaurosis
RS62635289 GPR143 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS62635294 KRT6A Health Risk Pathogenic Pachyonychia congenita 3, Pachyonychia congenita 3
RS62635346 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62635649 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 1
RS62635651 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Retinitis pigmentosa 12
RS62635652 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Retinitis pigmentosa 12
RS62635653 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS62635654 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Macular dystrophy
RS62635655 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Retinitis pigmentosa 12
RS62635656 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Retinal dystrophy
RS62635658 CRB1 Health Risk Likely pathogenic —
RS62635659 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS62635762 GPR143 Health Risk Pathogenic/Likely pathogenic —
RS62635763 DES Health Risk Pathogenic/Likely pathogenic Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS62635774 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Retinitis pigmentosa
RS62636260 CRB1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis 8
RS62636262 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS62636264 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS62636265 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS62636266 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS62636267 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS62636269 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS62636270 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS62636271 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS62636273 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS62636274 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS62636275 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS62636276 CRB1 Health Risk Pathogenic Retinal dystrophy, Leber congenital amaurosis 8
RS62636277 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS62636278 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS62636282 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Pigmented paravenous retinochoroidal atrophy
RS62636286 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS62636290 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Pigmented paravenous retinochoroidal atrophy
RS62636291 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Retinal dystrophy
RS62636292 TULP1 Health Risk Pathogenic Retinitis pigmentosa 14, Leber congenital amaurosis 15
RS62636295 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS62636298 RPE65 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS62636299 RPE65 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 20
RS62636300 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS62636490 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I
RS62636491 DES Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Desmin-related myofibrillar myopathy
RS62636492 DES Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Desmin-related myofibrillar myopathy
RS62636495 DES Health Risk Pathogenic Primary dilated cardiomyopathy, Desmin-related myofibrillar myopathy
RS62636501 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS62636502 NEFL Health Risk Likely pathogenic Peripheral neuropathy, Peripheral neuropathy
RS62636503 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease
RS62636505 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS62636506 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS62636507 LMNA Health Risk Likely pathogenic —
RS62636511 TULP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 14, Leber congenital amaurosis
RS62636512 CRX Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS62636518 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E
RS62636519 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS62636522 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F
RS62636524 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder
RS62636565 SLURP1 Health Risk Conflicting classifications of pathogenicity Acroerythrokeratoderma, Acroerythrokeratoderma
RS62636631 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS62636707 TULP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS62637002 RPE65 Health Risk Likely pathogenic —
RS62637004 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS62637006 RPE65 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS62637007 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS62637009 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, AIPL1-related retinopathy
RS62637010 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis
RS62637012 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis
RS62637014 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, AIPL1-related disorder
RS62637015 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis 1
RS62637016 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, AIPL1-related retinopathy
RS62637017 AIPL1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 4
RS62637018 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS62637021 NYX Health Risk Pathogenic Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
RS62637025 NYX Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS62637027 NYX Health Risk Pathogenic Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
RS62637029 NYX Health Risk Pathogenic/Likely pathogenic —
RS62637035 NYX Health Risk Conflicting classifications of pathogenicity NYX-related disorder, NYX-related disorder
RS62637037 NYX Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
RS62637337 BEST1 Health Risk Pathogenic Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy
RS62637566 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS62637613 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS62637629 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS62637639 EDNRB Health Risk Conflicting classifications of pathogenicity EDNRB-related disorder, EDNRB-related disorder
RS62638179 CEP290 Health Risk Pathogenic/Likely pathogenic CEP290-related disorder, Nephronophthisis
RS62638180 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
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