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
RS754769591 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS754770911 ABCB4 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Low phospholipid associated cholelithiasis
RS754771834 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS754771907 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS754772558 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS754773453 CFAP300 Health Risk Pathogenic Ciliary dyskinesia, primary
RS754773488 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS754773665 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS754775337 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS754775447 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity VATER association, VATER association
RS754775789 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS754776389 DNAJB13 Health Risk Pathogenic Primary ciliary dyskinesia 34, Primary ciliary dyskinesia 34
RS754776552 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS754776767 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS754777692 MTMR14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy
RS754778750 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS754778907 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS754779102 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS754779432 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS754779853 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS754780894 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS754781119 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS75478217 CYB5R3 Health Risk Conflicting classifications of pathogenicity Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
RS754782171 PLN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1P, Cardiovascular phenotype
RS754782740 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS754783287 TPRKB Health Risk Likely pathogenic Galloway-Mowat syndrome 5, Galloway-Mowat syndrome 5
RS754785410 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS754785664 GANAB Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS754785708 F7 Health Risk Conflicting classifications of pathogenicity Factor VII deficiency, Congenital factor VII deficiency
RS754786301 CNGB1 Health Risk Pathogenic —
RS754786373 DMXL2 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 71
RS754786846 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS754788022 DLL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754788289 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS754789952 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS754790166 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS754790425 PEX16 Health Risk Conflicting classifications of pathogenicity —
RS754791604 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, GLUT1 deficiency syndrome 1
RS754791755 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754792792 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS4-related disorder
RS754792932 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS754793514 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS754793583 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS754794236 KCNH1 Health Risk Conflicting classifications of pathogenicity KCNH1 associated disorder, KCNH1 associated disorder
RS754794859 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS754795292 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS754797146 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS754797404 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS754797409 LAMC3 Health Risk Pathogenic —
RS754797599 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS754798297 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS754799308 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS754800464 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS754801098 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS754802246 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS754802510 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS754804590 CNGB3 Health Risk Pathogenic —
RS754805158 ATP6V1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754805626 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS754805893 RBM20 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy 1DD
RS754806477 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS754806883 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS754808317 CIC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754808508 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS754808908 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS754809046 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis, Idiopathic Pulmonary Fibrosis
RS754809056 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS754809715 RHO Health Risk Likely pathogenic Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 1
RS754809877 PRKN Health Risk Pathogenic Autosomal recessive juvenile Parkinson disease 2, Lung cancer
RS754810094 PPP2R1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754810505 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS754810654 SPIDR Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS754811291 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS754811534 BFSP2 Health Risk Conflicting classifications of pathogenicity Cataract 12 multiple types, Cataract 12 multiple types
RS754812284 WDR62 Health Risk Pathogenic —
RS75481239 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS754812742 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS754813556 SUCLA2 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS754813827 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS754814123 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS754814477 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS754814638 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS754815022 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS754815178 BACH2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 60, Immunodeficiency 60
RS754815179 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Myofibromatosis
RS754815235 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS754815286 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS754815317 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754815893 ECHS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Thymoma
RS754817283 PDX1 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 4, Pancreatic agenesis 1
RS754818927 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS754819005 BSND Health Risk Conflicting classifications of pathogenicity Bartter syndrome, Bartter syndrome
RS754820097 POLR3A Health Risk Likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS754820584 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS754820795 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS754820811 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
RS754823057 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS754823810 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS754824181 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS754824568 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
« Prev 1 ... 3273 3274 3275 3276 3277 3278 3279 ... 4509 Next »

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

Get Started Free →