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
RS545179298 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS545181831 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Kidney disorder
RS545185154 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS545185248 MEF2C Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS545186322 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS545190212 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
RS545199062 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS545205153 CNNM4 Health Risk Conflicting classifications of pathogenicity Jalili syndrome, Jalili syndrome
RS545207228 NSD1 Health Risk Pathogenic NSD1-related disorder, NSD1-related disorder
RS545208237 C3orf52 Health Risk Pathogenic Hypotrichosis 15, Hypotrichosis 15
RS545215807 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS545218705 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS545219731 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS545235391 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS545239905 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS545247794 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS545251395 WHRN Health Risk Conflicting classifications of pathogenicity —
RS545256650 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS545257884 OTOG Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder
RS545264816 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS545265264 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS545266312 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS545268162 FAM20C Health Risk Pathogenic —
RS545270303 MOCS2 Health Risk Conflicting classifications of pathogenicity —
RS545271894 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS545280886 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS545286354 PLD3 Health Risk Conflicting classifications of pathogenicity —
RS545297878 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS545298641 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS545312801 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 3
RS545316807 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS545318648 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS545321215 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS545348156 CFB Health Risk Conflicting classifications of pathogenicity Macular degeneration, Atypical hemolytic-uremic syndrome with B factor anomaly
RS545359247 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS545362817 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, GALK1-related disorder
RS545363972 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS545377175 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS545377358 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS545383870 CPSF1 Health Risk Conflicting classifications of pathogenicity —
RS545384132 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS545392797 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS545407254 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS545411173 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS545431480 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS545435120 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS545443009 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS545444016 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS545454796 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS545456101 WDR81 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS545465750 ENG Health Risk Pathogenic —
RS545466048 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS545466506 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS545468684 CDC45 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS545470216 TBXAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS545471229 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS545477642 TSPAN12 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS545478008 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, FOXC1-related disorder
RS545489204 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Malaria
RS545498227 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS545501989 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS545508982 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS545511851 CACNA1C Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome
RS545512501 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS545515041 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS545517350 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS545520806 CHRNA1 Health Risk Likely pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS545521975 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS545524318 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS545526569 C2CD3 Health Risk Conflicting classifications of pathogenicity C2CD3-related disorder, Inborn genetic diseases
RS545531081 HEPACAM Health Risk Conflicting classifications of pathogenicity HEPACAM-related disorder, HEPACAM-related disorder
RS545534537 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS545535640 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS545536618 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS545543643 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS545545721 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS545552712 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS545556079 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS545588214 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Inborn genetic diseases
RS545589086 TRPV4 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS545592967 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Inborn genetic diseases
RS545593935 EIF2B5 Health Risk Pathogenic/Likely pathogenic Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5
RS545594924 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS545602928 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS545613984 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS545619665 ITGB4 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS545623839 MYH2 Health Risk Pathogenic Myopathy, proximal
RS545625106 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Inborn genetic diseases
RS545625150 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS545625368 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS545627123 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS545632095 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS545632286 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS545634451 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS545637885 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS545645581 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS545645633 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS545645668 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS545646890 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS545658252 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
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