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
RS141496431 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS141496493 TJP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TJP2-related disorder
RS1414969262 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS141497053 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy
RS141497098 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1414971683 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS141497185 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS1414973726 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS141497885 LAMC3 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, LAMC3-related disorder
RS141498002 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, Inborn genetic diseases
RS141498084 TBCE Health Risk Conflicting classifications of pathogenicity —
RS1414992991 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS141499372 STX11 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 4, Autoinflammatory syndrome
RS1414996600 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS141500365 IL6ST Health Risk Conflicting classifications of pathogenicity —
RS141501083 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, SOS1-related disorder
RS1415012145 ACTA2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS141501849 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, DOCK2-related disorder
RS141502002 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS141502207 CBS Health Risk Likely pathogenic Classic homocystinuria, Homocystinuria
RS141502688 NDUFV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial complex I deficiency
RS141502789 AXL Health Risk Conflicting classifications of pathogenicity —
RS141503266 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1415036829 ZMYND10 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 22
RS1415038504 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1415041911 GCK Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS1415043929 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS141505320 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase II deficiency, severe infantile form
RS141505676 TNNC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z
RS141505678 CCN6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1415073333 PPM1D Health Risk Likely pathogenic —
RS141507441 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS141507912 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS141508330 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS141509078 MYO9A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141509450 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS141509830 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Jeune thoracic dystrophy
RS141510219 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1
RS141510612 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
RS1415111675 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS141511580 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS4-related disorder
RS1415117420 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS141513734 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS141513851 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS141514601 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS141514714 KRIT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cerebral cavernous malformation
RS1415150379 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Genitopatellar syndrome
RS1415152805 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS141515578 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Autism spectrum disorder
RS141515588 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS1415157305 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1415160298 RHO Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 4
RS141516754 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1415168771 TERC Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 1
RS141516924 AARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1415178710 LEMD3 Health Risk Likely pathogenic —
RS141518273 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141518457 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS1415187475 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS141519183 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS1415196376 RFXAP Health Risk Pathogenic MHC class II deficiency 4, MHC class II deficiency 4
RS141519952 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1415205254 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1415205563 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141521127 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS1415211346 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS141521563 SAG Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa
RS141521925 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS141521945 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1415220872 FUS Health Risk Conflicting classifications of pathogenicity —
RS141522360 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1415224732 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141522501 DARS1 Health Risk Conflicting classifications of pathogenicity DARS1-related disorder, DARS1-related disorder
RS141523606 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS141523959 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS141524359 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS141524540 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS141524545 SLC10A2 Health Risk Conflicting classifications of pathogenicity —
RS1415245710 TCTN1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS141525226 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1415253676 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1415260207 KIF2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141526973 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS141527051 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases
RS1415270608 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141527136 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1415277933 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS141528309 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS141528779 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS141529327 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS1415293773 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1415296692 VLDLR Health Risk Likely pathogenic —
RS141529833 SERPING1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 1, Inborn genetic diseases
RS141530856 KIF21A Health Risk Conflicting classifications of pathogenicity Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases
RS141531245 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS1415318567 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1415324050 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS141533320 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1415338572 FLT4 Health Risk Pathogenic Congenital heart defects, multiple types
RS1415340981 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S
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