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
RS139362120 GABRA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139364109 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Microcephaly
RS139364454 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1393646938 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS139364887 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS139365076 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS139365189 CCDC141 Health Risk Conflicting classifications of pathogenicity —
RS139365610 FUZ Health Risk risk factor Neural tube defects, susceptibility to
RS1393661338 PKP2 Health Risk Pathogenic Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 9
RS1393663701 PEX1 Health Risk Pathogenic/Likely pathogenic Heimler syndrome 1, Zellweger spectrum disorders
RS1393664515 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS139366493 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS139366548 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS139366651 CCM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1393666972 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS139366882 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139366969 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases
RS139367104 KRT17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139367236 UBR1 Health Risk Conflicting classifications of pathogenicity UBR1-related disorder, Inborn genetic diseases
RS1393673267 FGD4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS139368769 RELT Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta, type 3C
RS139369157 GPD1L Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS139369561 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS1393707607 CD19 Health Risk Pathogenic Immunodeficiency, common variable
RS139371066 RHAG Health Risk Conflicting classifications of pathogenicity —
RS139371621 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS139371702 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS139372286 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS1393723853 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS139372534 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 6, Hereditary spastic paraplegia
RS139372744 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, AARS2-related disorder
RS139373152 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS139373929 SLC38A8 Health Risk Conflicting classifications of pathogenicity Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Inborn genetic diseases
RS1393747638 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS139375029 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS139375158 CCN6 Health Risk Conflicting classifications of pathogenicity —
RS139375212 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS1393753095 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS139375455 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, ANK1-related disorder
RS139375856 ALOXE3 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS139376910 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS1393769363 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS139377205 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS139377969 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, MCOLN1-related disorder
RS139378790 MAPKBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAPKBP1-related disorder
RS1393788111 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS139379077 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS139379111 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139379666 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS139379777 NIN Health Risk Conflicting classifications of pathogenicity —
RS139380111 CACNA1D Health Risk Conflicting classifications of pathogenicity CACNA1D-related disorder, CACNA1D-related disorder
RS139380315 ACVRL1 Health Risk Conflicting classifications of pathogenicity Haemorrhagic telangiectasia 2, Telangiectasia
RS1393804220 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Primary dilated cardiomyopathy
RS1393804814 CCDC88C Health Risk Pathogenic —
RS139380627 TAF1C Health Risk Conflicting classifications of pathogenicity —
RS139381609 C2 Health Risk Conflicting classifications of pathogenicity —
RS1393816662 ERLIN2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1393818056 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS139382018 HSPB3 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS139382267 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS139382539 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, SALL4-related disorder
RS139383159 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Inborn genetic diseases
RS139383231 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS139383288 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS1393856350 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS139385924 ACVR2B Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS1393866282 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS139387079 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS139387396 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS139388603 POT1 Health Risk Pathogenic/Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS139388814 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, SLC7A9-related disorder
RS139388828 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS139388833 UROS Health Risk Pathogenic —
RS1393899190 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS139390401 RSPH1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS139391329 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Intellectual disability
RS1393913548 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1393913948 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS139391790 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS139392370 CYP21A2 Health Risk Pathogenic —
RS139392451 CABP4 Health Risk Conflicting classifications of pathogenicity —
RS139393039 SLC26A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139393175 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS139393524 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS139394414 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1393946566 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS139395045 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS1393955970 CD2AP Health Risk Pathogenic Focal segmental glomerulosclerosis 3, susceptibility to
RS1393956366 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1393965473 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS139398367 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS139398871 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS139399061 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS139399166 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS139399527 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, AGL-related disorder
RS139399890 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS139399951 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS139400379 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS139401187 PITX2 Health Risk Conflicting classifications of pathogenicity Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1
RS139401358 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
« Prev 1 ... 474 475 476 477 478 479 480 ... 4509 Next »

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

Get Started Free →