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
RS763837297 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS763840800 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763840804 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder
RS763841886 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS763842122 TMPRSS3 Health Risk Likely pathogenic —
RS763842281 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS763842677 ASAH1 Health Risk Pathogenic/Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS763842878 NBEAL2 Health Risk Pathogenic/Likely pathogenic Gray platelet syndrome, Pancreatic adenocarcinoma
RS763843295 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS763843747 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS763843966 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS763844221 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS763844532 CCDC47 Health Risk Likely pathogenic Trichohepatoneurodevelopmental syndrome, Trichohepatoneurodevelopmental syndrome
RS763844538 FBN2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Connective tissue disorder
RS763844573 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763844939 DMD Health Risk Conflicting classifications of pathogenicity Becker muscular dystrophy, Duchenne muscular dystrophy
RS763845436 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS763845791 ASCC1 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2
RS763845960 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS763846344 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, RECQL4-related disorder
RS763846537 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS763847174 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset
RS763847381 LOXHD1 Health Risk Conflicting classifications of pathogenicity —
RS763847392 CHRNG Health Risk Likely pathogenic —
RS763847509 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS763848795 OTOG Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS763849774 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS763850093 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS763850295 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS763850684 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS763850764 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS763851539 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763852650 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS763852812 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763854371 TPP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763855058 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS763855448 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS763855483 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive Kenny-Caffey syndrome
RS763855534 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS763855790 RDH5 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS763857612 CFHR5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763858637 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS763859485 SETX Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS763860580 MYH2 Health Risk Pathogenic Myopathy, proximal
RS763861761 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS763862261 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS763862527 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS763862595 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS763862811 ABCA3 Health Risk Pathogenic/Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS763862849 RFT1 Health Risk Pathogenic/Likely pathogenic RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS763863196 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS763865303 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS763866879 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763869212 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS763870160 GCK Health Risk Likely pathogenic —
RS763870199 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS763870754 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS763870762 FBN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Congenital contractural arachnodactyly
RS763871350 TTN Health Risk Conflicting classifications of pathogenicity —
RS763871407 TAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763872010 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS763872132 TECTA Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12
RS763872301 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intellectual disability
RS763872353 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS763872895 IL1RN Health Risk Likely pathogenic Interstitial lung disease 2, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS763873797 SLCO1B1 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, Rotor syndrome
RS763874734 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS763877330 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Cervical cancer
RS763878189 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS763878712 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS763880042 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS763880352 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS763881975 OCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763882266 DNAH2 Health Risk Pathogenic Spermatogenic failure 45, Spermatogenic failure 45
RS763882874 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1F
RS763882898 PRPF31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PRPF31-related disorder
RS763883046 TLK2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 57
RS763884010 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS763886355 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS763888077 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS763888954 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS763889116 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS763889344 TRPV4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C
RS763890444 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS763890649 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS763891399 SCN5A Health Risk Conflicting classifications of pathogenicity 8 conditions, Cardiac arrhythmia
RS76389165 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS763891697 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS763893272 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS763893717 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, SCN4A-related non-dystrophic myotonia
RS763894364 DNM2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS763895619 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS763898193 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS763898293 OTOGL Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS763898355 SNAP25 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 18, Congenital myasthenic syndrome 18
RS763899069 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS763899082 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS763900107 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS763901270 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS763901597 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
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