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
RS760039339 MAGEL2 Health Risk Conflicting classifications of pathogenicity Schaaf-Yang syndrome, Inborn genetic diseases
RS760040029 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS760040426 DCDC2 Health Risk Pathogenic Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66
RS760040495 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS760040670 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS760041708 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS760041868 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS760042062 PDE6B Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Congenital stationary night blindness autosomal dominant 2
RS760043106 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Lung adenocarcinoma
RS760043559 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS760044422 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease
RS760045017 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS760045493 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS760048191 MSMO1 Health Risk Likely pathogenic Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, Inborn genetic diseases
RS760049336 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement
RS760049549 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS760051760 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, Thyroid cancer
RS760051929 BCLAF1 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS760052391 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
RS760053992 OBSL1 Health Risk Conflicting classifications of pathogenicity —
RS760054945 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS760056670 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Cowden syndrome
RS760058702 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary breast ovarian cancer syndrome
RS760059077 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS760059307 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS760059747 DDX41 Health Risk Pathogenic/Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS760060777 EMC1 Health Risk Conflicting classifications of pathogenicity Cerebellar atrophy, visual impairment
RS760060843 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS760061071 STXBP2 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS760062120 ABCC8 Health Risk Pathogenic/Likely pathogenic Hereditary hyperinsulinism, Diabetes mellitus
RS760063197 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS760063214 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS760063405 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS760065045 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS760065522 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS760065931 FBN2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Congenital contractural arachnodactyly
RS760066386 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS760066546 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760066611 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS760066667 MTOR Health Risk Conflicting classifications of pathogenicity —
RS760067070 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS760068474 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS760069458 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS760069953 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Rare genetic deafness
RS760070332 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS760071332 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS760071472 HCN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS760071561 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS760072286 YARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760072343 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS760073103 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS760073211 C2CD3 Health Risk Pathogenic —
RS760074158 GP6 Health Risk Pathogenic/Likely pathogenic Platelet-type bleeding disorder 11, Platelet-type bleeding disorder 11
RS760074335 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS760076679 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS760077598 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS760077781 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS760077981 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS760077990 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS760079000 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Type 2 diabetes mellitus
RS760079073 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS760079636 TGFBR1 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS760080044 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases
RS760081421 LOXHD1 Health Risk Pathogenic —
RS760081465 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS760081822 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS760082356 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS760082702 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS760083496 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastric cancer
RS760083523 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS760083976 LIFR Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS760084513 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS760084731 DCDC2 Health Risk Likely pathogenic Nephronophthisis 19, Nephronophthisis 19
RS760085327 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS760088260 TAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760088331 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS760088579 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760089379 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Inborn genetic diseases
RS760090242 MYO15A Health Risk Pathogenic MYO15A-related disorder, MYO15A-related disorder
RS760091174 C8A Health Risk Likely pathogenic —
RS760093841 COL2A1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia, Stanescu type
RS760093872 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS760094345 COL17A1 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS760094988 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS760096507 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ANK2-related disorder
RS760097427 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS760097703 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS760098710 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS760099299 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS760099622 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS760100325 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS760100924 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS760100983 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS760101172 NAE1 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
RS760101382 GAMT Health Risk Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS760101861 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS760102207 ABCA4 Health Risk Pathogenic —
RS760102500 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS760102576 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Sneddon syndrome
RS760104150 POLH Health Risk Likely pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
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