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
RS572632781 UNG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS572637154 MOCS2 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS572639953 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 7, Paget disease of bone 2
RS572648977 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS572652703 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS572658914 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS572662012 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS572666403 OTOGL Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS572667303 DPP6 Health Risk Conflicting classifications of pathogenicity —
RS572671060 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS572671721 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS572671956 RRM2B Health Risk Conflicting classifications of pathogenicity —
RS572684828 PNPT1 Health Risk Likely pathogenic PNPT1-related disorder, PNPT1-related disorder
RS572691153 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS572706456 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS572712965 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS572717478 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS572722130 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS572724183 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS572725483 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS572726028 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Inborn genetic diseases
RS572728420 NCDN Health Risk Conflicting classifications of pathogenicity —
RS572741145 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS572754741 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS572756147 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS572757800 VCL Health Risk Conflicting classifications of pathogenicity Congestive heart failure, Dilated cardiomyopathy 1W
RS572772837 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS572782576 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS57278315 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex 1D, generalized
RS572786148 IFNGR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 28, Immunodeficiency 28
RS572790932 NDE1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 4, Lissencephaly 4
RS572803728 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS572826781 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS572827902 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder
RS572837622 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS572839648 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS572839851 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS572843421 RDX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS572849791 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS572852980 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS572853045 CEL Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
RS572854572 NEDD4L Health Risk Conflicting classifications of pathogenicity —
RS572858289 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS572861590 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS572878194 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, KBG syndrome
RS572884359 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS572886375 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS572890701 GRM6 Health Risk Conflicting classifications of pathogenicity —
RS572899352 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS572906212 MECOM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS572906317 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS572910896 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS572915935 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS572916661 PSAP;CDH23 Health Risk Likely pathogenic Combined PSAP deficiency, Combined PSAP deficiency
RS572917990 RNU4ATAC Health Risk Conflicting classifications of pathogenicity RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder
RS572923181 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS572930933 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS572936041 RET Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 1, Multiple endocrine neoplasia
RS572936673 RECQL4 Health Risk Conflicting classifications of pathogenicity Rothmund-Thomson syndrome type 2, Inborn genetic diseases
RS572938229 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS572942384 WNT10A Health Risk Likely pathogenic Tooth agenesis, selective
RS572945276 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS572949989 REST Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS572950289 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS572950705 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS572950870 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1-related disorder
RS572952653 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS572955351 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Fibromatosis
RS572959359 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS572960572 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS572960610 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS572963582 KATNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS572964298 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS572969666 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS572969883 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS572980966 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Lethal acantholytic epidermolysis bullosa
RS572986326 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS572986717 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS572988631 TUBB1 Health Risk Conflicting classifications of pathogenicity —
RS572992003 PGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 42
RS572997548 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, PHARC syndrome
RS573006534 TMEM126B Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 29
RS573007540 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS573016418 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS573018433 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS573020080 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS573020950 ACTN4 Health Risk Conflicting classifications of pathogenicity —
RS573028412 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS573039542 TSEN34 Health Risk Conflicting classifications of pathogenicity —
RS573048639 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS573057228 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Retinal dystrophy
RS573061464 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS573063062 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS573063758 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS573065562 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS573071858 OTOG Health Risk Conflicting classifications of pathogenicity —
RS573082979 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS573095617 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency
RS573105911 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, Orofacial cleft 8
RS573118236 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
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