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
RS781012508 LAMB3 Health Risk Pathogenic —
RS781013226 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS781013376 MCCC2 Health Risk Likely pathogenic Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS781013408 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS781013694 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS781013736 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS781013887 ABCB11 Health Risk Likely pathogenic —
RS781014949 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS781015830 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS781016213 LPIN2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Majeed syndrome
RS781016340 TWNK Health Risk Likely pathogenic Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS781016371 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781018494 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS781019071 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Farber lipogranulomatosis
RS781019481 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781020097 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS781020381 GUCY1A1 Health Risk Conflicting classifications of pathogenicity Moyamoya disease with early-onset achalasia, Moyamoya disease 1
RS781020561 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS781021132 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Malignant tumor of breast
RS78102263 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS781023043 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS781023264 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS781023326 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS781023624 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS781023784 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS781023894 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS781023923 COQ8B Health Risk Likely pathogenic Nephrotic syndrome, type 9
RS781025932 CAP2 Health Risk Pathogenic Cardiomyopathy, dilated
RS781026169 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS781027702 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS781028684 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS781028867 FTO Health Risk Pathogenic Lethal polymalformative syndrome, Boissel type
RS781030239 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS781030242 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS781031762 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS781032589 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS781033681 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS781035395 LCA5 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis 5
RS781036111 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS781036625 SLC45A1 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with neuropsychiatric features, Intellectual developmental disorder with neuropsychiatric features
RS781036800 VCL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 15
RS781040501 ROR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brachydactyly type B1
RS781043222 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS781043714 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS781043870 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS781045037 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS781046590 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS781047520 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS781050795 ACP5 Health Risk Pathogenic/Likely pathogenic Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases
RS781051771 TREX1 Health Risk Likely pathogenic —
RS781052288 TYR Health Risk Likely pathogenic Nonsyndromic Oculocutaneous Albinism, Nonsyndromic Oculocutaneous Albinism
RS781053477 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS781053760 PNPLA1 Health Risk Pathogenic/Likely pathogenic Congenital ichthyosiform erythroderma, Autosomal recessive congenital ichthyosis 10
RS781053852 CHM Health Risk Pathogenic —
RS781054741 DMD Health Risk Pathogenic Cardiovascular phenotype, Duchenne muscular dystrophy
RS781055610 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS781056404 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Hemorrhage
RS781056926 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS781057669 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS781058452 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS781059624 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS781059799 COX16 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 22
RS781059815 ABCC8 Health Risk Likely pathogenic Familial hyperinsulinism, Hyperinsulinemic hypoglycemia
RS781059966 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781060459 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS781060978 CHM Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS781061676 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS781062154 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS781062223 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS781062564 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS781062618 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS781063563 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS781064333 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Ovarian cancer
RS781065201 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781065280 MTHFD1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Neural tube defects
RS781065429 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS781065435 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781065862 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS781066087 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-related disorder
RS781066262 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS781067370 RASA2 Health Risk Conflicting classifications of pathogenicity —
RS781068016 ATXN7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781068774 PLCE1 Health Risk Pathogenic —
RS781068928 HPS5 Health Risk Pathogenic —
RS781069799 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS781070707 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781071008 OBSCN Health Risk Pathogenic —
RS781072025 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS781072699 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS781074115 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, CLCN7-related disorder
RS781074405 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS781074931 CYP21A2 Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS781075182 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS781075511 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS781075845 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS781075990 GBA2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS781076149 FNIP1 Health Risk Likely pathogenic —
RS781077687 SMPD4 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS781077978 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS781078805 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
« Prev 1 ... 3697 3698 3699 3700 3701 3702 3703 ... 4509 Next »

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

Get Started Free →