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
RS568391206 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS568406743 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS568413 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS568416833 CLCN6 Health Risk Conflicting classifications of pathogenicity —
RS568424578 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS568425709 ELP1 Health Risk Pathogenic/Likely pathogenic ELP1-Associated Medulloblastoma, ELP1-Associated Medulloblastoma
RS56843567 PRPH Health Risk risk factor Amyotrophic lateral sclerosis, susceptibility to
RS568437392 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS568445278 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS568451087 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS568452175 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS568452581 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS568456380 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS568461905 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS568469504 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS568470164 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1D
RS568474038 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS568474579 ELANE Health Risk Likely pathogenic —
RS568479156 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS568483789 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, RARS2-related disorder
RS568484876 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS568489216 KLF13 Health Risk Conflicting classifications of pathogenicity —
RS568492478 NOBOX Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS568495838 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS568497742 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS568498471 COL7A1 Health Risk Conflicting classifications of pathogenicity Generalized dominant dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS56851164 LMNA Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS568513106 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS568515612 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS568526447 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS568528640 PTCH1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 7, Gorlin syndrome
RS568534039 FAM20C Health Risk Conflicting classifications of pathogenicity FAM20C-related disorder, FAM20C-related disorder
RS568547927 GCNT2 Health Risk Conflicting classifications of pathogenicity Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
RS568549084 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS568553875 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS568554504 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS568556987 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS568558844 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS568570377 ASNS Health Risk Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS568571580 RHO Health Risk Conflicting classifications of pathogenicity —
RS568576108 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS568585511 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS568590920 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS568593066 LRRK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant Parkinson disease 8
RS568598684 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS568607741 CSF2RB Health Risk Conflicting classifications of pathogenicity —
RS568609861 DSG1 Health Risk Pathogenic Palmoplantar keratoderma i, striate
RS568610646 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS568612627 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss
RS568619953 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS568623476 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS568625247 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Familial pancreatic carcinoma
RS568625812 FBN1 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 1, isolated
RS568625965 GALNT12 Health Risk Conflicting classifications of pathogenicity GALNT12-related disorder, GALNT12-related disorder
RS568626378 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS568627877 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS568632297 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency
RS568632361 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS568635759 PTH1R Health Risk Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia
RS568641163 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases
RS568643238 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS568648664 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS568653423 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS568675071 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, KBTBD13-related disorder
RS568688504 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS568690074 GLI3 Health Risk Conflicting classifications of pathogenicity Polydactyly, Greig cephalopolysyndactyly syndrome
RS568695601 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS568695865 VPS33A Health Risk Conflicting classifications of pathogenicity —
RS568696333 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS568699617 ALPK3 Health Risk Pathogenic Neurodevelopmental disorder, Cardiovascular phenotype
RS568700183 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Connective tissue disorder
RS568711737 KCNC3 Health Risk Conflicting classifications of pathogenicity —
RS568711898 SOX18 Health Risk Conflicting classifications of pathogenicity Bladder exstrophy-epispadias-cloacal extrophy complex, Bladder exstrophy-epispadias-cloacal extrophy complex
RS568718845 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS568721384 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS568724445 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS568736482 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS568736669 FREM2 Health Risk Conflicting classifications of pathogenicity FREM2-related disorder, FREM2-related disorder
RS568741210 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS568750433 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, Monogenic short stature
RS568753972 BRCA1 Health Risk Pathogenic —
RS568761860 ATP8B3 Health Risk Likely pathogenic —
RS568762540 COL1A2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS568763153 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella syndrome
RS568763662 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Inborn genetic diseases
RS568769965 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS568774163 PEPD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56877937 ABCC6 Health Risk Conflicting classifications of pathogenicity —
RS568780532 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS568781940 ABCA4 Health Risk Conflicting classifications of pathogenicity Late-onset cone-rod dystrophy, Late-onset cone-rod dystrophy
RS568792949 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS568801926 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Nephronophthisis 8, Meckel syndrome
RS568810058 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS568816337 DGUOK Health Risk Conflicting classifications of pathogenicity DGUOK-related disorder, DGUOK-related disorder
RS568820656 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS568823322 AP3D1 Health Risk Conflicting classifications of pathogenicity —
RS568826186 HERC1 Health Risk Conflicting classifications of pathogenicity Macrocephaly, dysmorphic facies
RS568826753 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS568835164 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS568840295 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
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