SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS985886242 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS985896883 SUCLA2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS985916344 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS985937027 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS985944979 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS985960682 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS986004460 COL7A1 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS986051481 TECTA Health Risk Conflicting classifications of pathogenicity —
RS986099 FAM20A Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS986154966 CDH23 Health Risk Likely pathogenic —
RS986217332 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS986239975 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS986265810 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS986271387 XRCC4 Health Risk Pathogenic/Likely pathogenic Short stature, microcephaly
RS986325764 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS986339609 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS986350598 KCNV2 Health Risk Pathogenic cone dystrophy with supernormal rod electroretinogram, Cone dystrophy with supernormal rod response
RS986353158 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS986393350 DNAH9 Health Risk Pathogenic —
RS986393872 COL6A2 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS986400534 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS986437232 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Spondyloepiphyseal dysplasia
RS986448088 LIFR Health Risk Pathogenic —
RS986454063 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS986470719 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS986500427 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS986503217 MFRP Health Risk Pathogenic/Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS986592823 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, EPG5-related disorder
RS986602724 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS986604359 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS986664547 IMPG1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS986671553 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS986681092 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS986682061 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS986682657 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS986692550 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS986694616 RAG1 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS986702153 ACTL6B Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS986710868 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS986716280 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS986742379 ACAN Health Risk Likely pathogenic Spondyloepiphyseal dysplasia, Kimberley type
RS986748364 PRPH2 Health Risk Pathogenic/Likely pathogenic Isolated macular dystrophy, Stargardt disease
RS986773986 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS986819935 TPRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS986822818 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS986826850 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS986848347 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS986853401 RP1L1 Health Risk Likely pathogenic —
RS986891825 F5 Health Risk Pathogenic/Likely pathogenic Congenital factor V deficiency, Budd-Chiari syndrome
RS986900959 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS986986719 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS987032967 IQSEC2 Health Risk Conflicting classifications of pathogenicity See cases, Intellectual disability
RS987035031 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
RS987036804 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS987042061 HES7 Health Risk Conflicting classifications of pathogenicity —
RS987070540 TRIM37 Health Risk Conflicting classifications of pathogenicity —
RS987102148 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS987124852 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS987149771 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity
RS987157491 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS987202268 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS987233144 ARHGEF18 Health Risk Likely pathogenic Retinitis pigmentosa 78, Retinitis pigmentosa 78
RS987417898 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS987431392 AIP Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS987442188 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS987447860 SLC5A2 Health Risk Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
RS987453838 CCDC88C Health Risk Pathogenic —
RS987487921 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS987536405 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS987712309 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS987735817 PIBF1 Health Risk Pathogenic Joubert syndrome 33, PIBF1-related disorder
RS987737814 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS987763947 TOGARAM1 Health Risk Likely pathogenic Joubert syndrome 37, Joubert syndrome 37
RS987772341 CYFIP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS987780496 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS987815892 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS987834241 GRM6 Health Risk Pathogenic —
RS987846203 MLYCD Health Risk Pathogenic/Likely pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS987857709 LSS Health Risk Likely pathogenic Hypotrichosis 14, Alopecia-intellectual disability syndrome 4
RS987869733 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia 2, Bleeding disorder
RS987877790 BCKDHB Health Risk Likely pathogenic —
RS987916591 PDE2A Health Risk Pathogenic Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures
RS987919056 EPCAM Health Risk Likely pathogenic Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy
RS987921756 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS987971305 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS987999780 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS988006454 VIPAS39 Health Risk Conflicting classifications of pathogenicity VIPAS39-related disorder, VIPAS39-related disorder
RS988018153 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS988021644 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS988027905 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS988031901 COL7A1 Health Risk Pathogenic/Likely pathogenic COL7A1-related disorder, 7 conditions
RS988036800 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS988049940 CNNM2 Health Risk Conflicting classifications of pathogenicity Hypomagnesemia, seizures
RS988100071 JPH2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS988133284 RPE65 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Retinitis pigmentosa 20
RS988175540 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS988192535 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS988213215 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS988221869 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS988224463 ADCY5 Health Risk Conflicting classifications of pathogenicity Dyskinesia with orofacial involvement, autosomal dominant
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