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
RS140976519 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140977837 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, LRP5-related disorder
RS1409781409 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1409782065 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1409782833 BLM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS140978915 SLC20A2 Health Risk Conflicting classifications of pathogenicity Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1409801782 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS140980397 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS140981285 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS140982447 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS140983139 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS1409835623 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS140983930 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS140984555 TEX11 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure, X-linked
RS1409847091 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1409849850 VPS13A Health Risk Pathogenic —
RS140985224 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Hearing impairment
RS140985600 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve
RS140986055 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS140986245 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS140986546 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS140986557 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1409868711 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS1409874487 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS140987490 FXN Health Risk Pathogenic Friedreich ataxia, Friedreich ataxia
RS140988229 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS1409883266 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1409888746 CTSC Health Risk Pathogenic/Likely pathogenic Periodontitis, aggressive 1
RS140989004 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS1409892710 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS140989450 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS140989921 CANT1 Health Risk Conflicting classifications of pathogenicity —
RS1409900082 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS140990171 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS140990231 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS1409902979 CYP11B2 Health Risk Pathogenic —
RS1409904698 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS140990611 PREPL Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS1409913416 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS140991712 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Inborn genetic diseases
RS140991871 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS140992177 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS1409924291 ACE Health Risk Pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS140992439 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS140992482 MPV17 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS140992541 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome
RS1409931715 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS140993290 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS140993310 MMP13 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, Missouri type
RS140993544 GPT2 Health Risk Conflicting classifications of pathogenicity Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
RS140993979 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS1409944554 A2ML1 Health Risk Likely pathogenic Otitis media, susceptibility to
RS140994860 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, LCT-related disorder
RS140994965 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1409955425 CWC27 Health Risk Pathogenic Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
RS140996453 RAPSN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS140996643 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1409969130 PSAP Health Risk Likely pathogenic Parkinson disease 24, autosomal dominant
RS140997181 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS1409975594 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1409976651 AP3B2 Health Risk Pathogenic —
RS140998455 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS140998909 BEX1 Health Risk Conflicting classifications of pathogenicity —
RS1409994676 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS140999738 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS141000358 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1410005477 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS141001113 REST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141001261 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1410013974 SLC6A1 Health Risk Likely pathogenic —
RS141002044 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, ACTN4-related disorder
RS141004029 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS1410041361 KDM5B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS141004644 JAM3 Health Risk Pathogenic Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
RS1410046826 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1410048027 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS141004815 DNAAF19 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141004978 GAD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS1410070375 NDUFV1 Health Risk Pathogenic —
RS1410072763 STRC Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS141007488 DNAJC19 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 5, Inborn genetic diseases
RS1410075831 SLC24A1 Health Risk Pathogenic Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS141007836 RREB1 Health Risk Conflicting classifications of pathogenicity —
RS141007991 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Inborn genetic diseases
RS141008024 TELO2 Health Risk Conflicting classifications of pathogenicity TELO2-related intellectual disability-neurodevelopmental disorder, Inborn genetic diseases
RS141010008 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS141010693 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS141010716 CACNA1F Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 2A, Retinal dystrophy
RS141011337 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS141011435 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS141011459 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS141011629 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS141011688 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS141011840 LARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1410122696 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS141012833 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141013157 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1410133502 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS141013408 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, See cases
RS141013518 NHS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nance-Horan syndrome
« Prev 1 ... 514 515 516 517 518 519 520 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →