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
RS750529207 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS750529492 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750530263 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS750530407 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS750531364 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal recessive
RS750531880 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS750532596 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS75053309 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS750534583 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS750535100 UMOD Health Risk Likely pathogenic —
RS750535468 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS75053547 ZNF341 Health Risk Conflicting classifications of pathogenicity ZNF341-related disorder, ZNF341-related disorder
RS750535638 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS750537710 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS750538204 LAMB2 Health Risk Pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS750538499 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS750539322 NOTCH1 Health Risk Conflicting classifications of pathogenicity NOTCH1-related disorder, Adams-Oliver syndrome 5
RS750539462 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 43, Retinal dystrophy
RS750540944 DYNC2I1 Health Risk Pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS750542485 EXT2 Health Risk Pathogenic Exostoses, multiple
RS750542962 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Autosomal recessive retinitis pigmentosa
RS750543865 NDUFAF7 Health Risk Likely pathogenic —
RS750544827 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS750545429 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750545562 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS750545966 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS750547223 WDR62 Health Risk Pathogenic —
RS750547893 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS750548251 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS750548324 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS750548522 PEPD Health Risk Pathogenic/Likely pathogenic Prolidase deficiency, Megaconial type congenital muscular dystrophy
RS750548574 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS750549000 FERRY3 Health Risk Pathogenic —
RS750549006 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS750549499 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS750550229 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS750550558 PNKP Health Risk Likely pathogenic —
RS750551012 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS750551043 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS750552137 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS750552324 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS750553908 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS750554079 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, COL4A3-related disorder
RS750555513 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Nephronophthisis 14
RS750556299 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, 6 conditions
RS750556964 TMC6 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases
RS750557604 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS750558115 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS750558686 SIK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS750559671 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS750559695 CYFIP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750560040 TPRN Health Risk Conflicting classifications of pathogenicity —
RS750560502 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS750561477 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS750562280 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS750563193 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS750565190 EVC Health Risk Likely pathogenic —
RS750565501 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS750565633 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750566159 PNPO Health Risk Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS750566714 SOX10 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS750567664 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS750568080 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750568866 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS750569208 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS750569823 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS750570683 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS750570850 MED13 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 61, See cases
RS750571210 OPTN Health Risk Pathogenic Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS750571274 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS750572947 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS750573078 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750573655 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS750573800 DACT1 Health Risk Conflicting classifications of pathogenicity —
RS750573955 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS750577544 TNR Health Risk Likely pathogenic Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder
RS750578651 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Retinoblastoma
RS750578677 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS750579270 DZIP1L Health Risk Likely pathogenic —
RS750579288 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750579775 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS750580462 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS750580632 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750581150 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer
RS750582198 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750583669 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS750583721 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS750584489 VLDLR Health Risk Pathogenic —
RS750585238 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS750585255 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS750585884 ITK Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Lymphoproliferative syndrome 1
RS750586158 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS750586210 ABCC8 Health Risk Pathogenic/Likely pathogenic Familial hyperinsulinism, Hereditary hyperinsulinism
RS750588859 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS750590052 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS750590533 SLC25A19 Health Risk Pathogenic Progressive demyelinating neuropathy with bilateral striatal necrosis, Progressive demyelinating neuropathy with bilateral striatal necrosis
RS750591887 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS750591986 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS750592118 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS750592289 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
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