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
RS750011371 KCNJ2 Health Risk Conflicting classifications of pathogenicity KCNJ2-related disorder, Andersen Tawil syndrome
RS750011688 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750012108 F5 Health Risk Pathogenic/Likely pathogenic Congenital factor V deficiency, Budd-Chiari syndrome
RS750012595 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS750014233 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS750014782 CHCHD2 Health Risk Pathogenic Parkinson disease 22, autosomal dominant
RS750014974 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS750018974 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS750019452 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, ATP7B-related disorder
RS750020230 FREM2 Health Risk Likely pathogenic FREM2-related disorder, Fraser syndrome 2
RS750021293 TNNC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
RS750021846 PDLIM3 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS750022100 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS750022332 MID1 Health Risk Conflicting classifications of pathogenicity —
RS750022485 GUSB Health Risk Conflicting classifications of pathogenicity —
RS750022919 AMMECR1 Health Risk Pathogenic Midface hypoplasia, hearing impairment
RS750023118 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS750024153 CYFIP2 Health Risk Conflicting classifications of pathogenicity —
RS750024353 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS750026037 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75002628 ALB Health Risk Pathogenic Hyperthyroxinemia, familial dysalbuminemic
RS750026492 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS750026615 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS750027126 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Bartter syndrome
RS750027720 PIEZO1 Health Risk Conflicting classifications of pathogenicity Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, PIEZO1-related disorder
RS750027827 TYR Health Risk Pathogenic —
RS750027965 CDH23 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Pituitary adenoma 5
RS750028300 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS750028556 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases
RS750028739 TOR1AIP1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS750029908 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS750030142 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS750030373 TNXB Health Risk Pathogenic/Likely pathogenic TNXB-related disorder, TNXB-related disorder
RS750031278 MTOR Health Risk Conflicting classifications of pathogenicity —
RS750032058 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS750032192 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS750033728 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS750033888 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS750035706 MBOAT7 Health Risk Pathogenic Intellectual disability, autosomal recessive 57
RS750035783 EFNB1 Health Risk Pathogenic —
RS750036723 FBN1 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Stiff skin syndrome
RS750037594 COQ8B Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 9
RS750038327 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750038933 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750039342 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS750039813 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Piebaldism
RS750040156 RETREG1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS750040287 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1
RS750040616 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS75004096 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS750041378 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS750042754 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS750043368 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS750043999 COQ6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS750044197 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS750045020 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS750045564 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS750046020 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS750047137 CHD7 Health Risk Pathogenic —
RS750047570 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS750048032 TTN Health Risk Conflicting classifications of pathogenicity —
RS750049486 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KAT6A-related disorder
RS750049518 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS750052718 PKD1L1 Health Risk Conflicting classifications of pathogenicity PKD1L1-related disorder, Inborn genetic diseases
RS750053946 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS750054075 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS750054763 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS750055830 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS750055861 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS750055952 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 9, Senior-Loken syndrome 9
RS750055958 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS750056424 FAN1 Health Risk Pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS750056825 NDUFS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 5
RS750057517 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS750057550 MICAL1 Health Risk Likely pathogenic —
RS750057655 TTC21A Health Risk Pathogenic Spermatogenic failure 37, Spermatogenic failure 37
RS750058898 DNAH9 Health Risk Pathogenic —
RS750060649 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS750060652 SLC4A11 Health Risk Pathogenic —
RS750060978 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS750061237 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750061842 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750061873 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS750061899 ATP8B1 Health Risk Pathogenic —
RS750062887 ERCC1 Health Risk Likely pathogenic —
RS750063274 ERBB2 Health Risk Conflicting classifications of pathogenicity Glioma susceptibility 1, Lung cancer
RS750063736 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS750064223 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS750064248 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS750064853 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS750066836 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Palmoplantar keratodermas
RS750068521 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Inborn genetic diseases
RS750069192 KIF12 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS750070668 COL18A1 Health Risk Likely pathogenic —
RS750071268 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS750071451 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS750071923 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS750072063 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, VPS13A-related disorder
RS750073051 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS750073768 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
« Prev 1 ... 3196 3197 3198 3199 3200 3201 3202 ... 4509 Next »

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

Get Started Free →