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
RS2125125105 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS2125125165 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2125125269 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS2125125299 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS2125125325 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2125125896 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2125128187 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2125128261 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2125128271 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, VHL-related disorder
RS2125128327 VHL Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS2125128340 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS2125128363 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS2125130449 VHL Health Risk Likely pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2125130543 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS2125130551 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2125130735 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS2125130793 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS2125130877 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2125134167 SUMF1 Health Risk Pathogenic/Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2125158367 D2HGDH Health Risk Pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS2125159664 ITPR1 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29
RS2125159710 ITPR1 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16
RS2125159718 ITPR1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29
RS2125165615 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2125165857 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2125166116 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2125166200 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2125166454 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2125167364 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2125167652 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2125167896 DES Health Risk Likely pathogenic —
RS2125168194 DES Health Risk Likely pathogenic Cardiomyopathy, DES-related disorder
RS2125168811 DES Health Risk Likely pathogenic Bradycardia, Progressive familial heart block
RS2125168897 DES Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Desmin-related myofibrillar myopathy
RS2125168913 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2125171543 SETD5 Health Risk Pathogenic —
RS2125176154 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2125177235 PPARG Health Risk Likely pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS2125187131 SETD5 Health Risk Pathogenic —
RS2125187544 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125187619 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125187678 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125187739 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125187905 SETD5 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2125193560 ITPR1 Health Risk Likely pathogenic Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29
RS2125193661 SETD5 Health Risk Pathogenic/Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125193922 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125193925 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 12
RS2125194140 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125194268 SETD5 Health Risk Conflicting classifications of pathogenicity See cases, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125196920 ITPR1 Health Risk Pathogenic —
RS2125201760 ITPR1 Health Risk Likely pathogenic —
RS2125201841 ITPR1 Health Risk Pathogenic Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16
RS2125208683 SATB1 Health Risk Pathogenic Kohlschutter-Tonz syndrome-like, Developmental delay with dysmorphic facies and dental anomalies
RS2125212001 SETD5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2125212022 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125214086 ITPR1 Health Risk Pathogenic —
RS2125215016 PPARG Health Risk Pathogenic DIABETES MELLITUS, TYPE II
RS2125235547 SETD5 Health Risk Pathogenic —
RS2125235756 ITPR1 Health Risk Likely pathogenic —
RS2125241261 ITPR1 Health Risk Likely pathogenic —
RS2125252529 PPARG Health Risk Pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS2125252919 IL17RC Health Risk Likely pathogenic —
RS2125253315 RPL15 Health Risk Pathogenic —
RS2125271279 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125272771 ITPR1 Health Risk Likely pathogenic Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29
RS2125273254 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125274409 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS2125280717 SETD5 Health Risk Pathogenic —
RS2125280753 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125281306 SETD5 Health Risk Pathogenic/Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS2125283014 ITPR1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29
RS2125283083 ITPR1 Health Risk Pathogenic —
RS2125283159 ITPR1 Health Risk Likely pathogenic —
RS2125284331 PPARG Health Risk Likely pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS2125284643 PPARG Health Risk Likely pathogenic —
RS2125285337 PPARG Health Risk Likely pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS2125288295 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125288672 SPEG Health Risk Pathogenic —
RS2125288982 SETD5 Health Risk Pathogenic Global developmental delay, Heart
RS2125290668 SETD5 Health Risk Pathogenic —
RS2125291407 COL4A4 Health Risk Likely pathogenic —
RS2125291573 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2125291854 COL4A4 Health Risk Pathogenic —
RS2125292585 COL4A4 Health Risk Pathogenic —
RS2125298689 PIKFYVE Health Risk Likely pathogenic Fleck corneal dystrophy, Fleck corneal dystrophy
RS2125303600 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125303667 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2125303672 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125303994 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125304158 IQSEC1 Health Risk Likely pathogenic —
RS2125304648 CRB1 Health Risk Likely pathogenic Abnormality of the eye, Retinal dystrophy
RS2125304900 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125314878 CYP1B1 Health Risk Likely pathogenic —
RS2125314883 CYP1B1 Health Risk Likely pathogenic Glaucoma 3A, Glaucoma 3
RS2125316074 CYP1B1 Health Risk Likely pathogenic Glaucoma 3A, Primary congenital glaucoma
RS2125316235 CYP1B1 Health Risk Pathogenic Anterior segment dysgenesis 6, Glaucoma 3A
RS2125316417 CYP1B1 Health Risk Pathogenic Glaucoma, primary open angle
RS2125321733 NGLY1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS2125322976 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
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