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
RS200838637 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II
RS200839105 DIAPH3 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS200839716 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS200839854 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS200839929 CYP7A1 Health Risk Conflicting classifications of pathogenicity —
RS200839945 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 28
RS200839960 PKD1L2 Health Risk Likely pathogenic Otosclerosis 4, Otosclerosis 4
RS200840044 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS200840068 TNFAIP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, familial
RS200840994 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS200841458 COQ8B Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 9
RS200841589 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200841672 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS200841830 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS200841925 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS200842502 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS200842846 SLC6A19 Health Risk Pathogenic/Likely pathogenic Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS200843101 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS200843338 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tibial muscular dystrophy
RS200843485 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS200843534 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS200843771 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS200843831 LIPE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200844059 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS200844292 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS200844390 INVS Health Risk Pathogenic/Likely pathogenic Infantile nephronophthisis, Nephronophthisis
RS200844864 DNAJB5 Health Risk Conflicting classifications of pathogenicity —
RS200844984 EPS8 Health Risk Conflicting classifications of pathogenicity EPS8-related disorder, EPS8-related disorder
RS200845312 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS200845457 SPR Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS200845843 NEU1 Health Risk Likely pathogenic —
RS200845884 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS200846140 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS200846235 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIDINS220-related disorder
RS200846317 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200846354 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Autosomal recessive retinitis pigmentosa
RS200846541 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS200847026 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS200847054 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS200847393 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS200848069 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200848306 GHRHR Health Risk Pathogenic/Likely pathogenic Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency
RS200848641 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS200848719 KARS1 Health Risk Pathogenic —
RS200848754 NPHP4 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 4, Nephronophthisis
RS200848930 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS200848981 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS200849015 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Cone-rod dystrophy 3
RS200849058 OBSCN Health Risk Likely pathogenic Rhabdomyolysis, susceptibility to
RS200849182 WAC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, WAC-related disorder
RS200849753 FGFR3 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Inborn genetic diseases
RS200849757 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS200849778 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS200850285 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS200850308 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS200850440 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS200850474 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200850919 DOCK11 Health Risk Conflicting classifications of pathogenicity —
RS200851382 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS200851536 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS200851583 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS200852252 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200852303 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS200852418 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related skeletal myopathy
RS200852589 ANKRD36 Health Risk Likely pathogenic Hearing loss, autosomal recessive
RS200852626 RAD21 Health Risk Conflicting classifications of pathogenicity RAD21-related disorder, Cornelia de Lange syndrome 4
RS200853014 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS200853469 PKD1L1 Health Risk Pathogenic PKD1L1-related disorder, Heterotaxy
RS200853535 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS200853598 POGLUT1 Health Risk Conflicting classifications of pathogenicity Sarcoma, Gastric cancer
RS200853731 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS200854704 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS200854743 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200854927 PCDH19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS200855007 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS200855390 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease 2
RS200855792 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS200855949 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS200856070 KCNE3;LIPT2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 6, Cardiovascular phenotype
RS200856239 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200856421 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS200856502 BICRA Health Risk Conflicting classifications of pathogenicity —
RS200856561 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS200856894 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS200857129 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS200857366 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS200857533 TEK Health Risk Conflicting classifications of pathogenicity Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases
RS200857543 AASS Health Risk Conflicting classifications of pathogenicity —
RS200857989 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS200858435 FGF12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200858701 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200858786 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYO18B-related disorder
RS200858797 AICDA Health Risk Pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS200859030 SLMAP Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS200859630 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200859699 DYNC2LI1 Health Risk Pathogenic Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly
RS200860068 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 1, Retinitis pigmentosa
RS200860319 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS200860322 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200860423 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
« Prev 1 ... 1448 1449 1450 1451 1452 1453 1454 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →