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
RS531398630 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS531408610 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS531410403 CEP152 Health Risk Pathogenic —
RS531412940 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS531413807 BRSK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS531420022 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS531420059 CDHR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS531425980 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS531431738 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS531432790 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS531438720 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS531450737 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS531460655 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS531462148 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS531475386 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS531480370 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS531482240 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS531485198 ARHGEF18 Health Risk Conflicting classifications of pathogenicity ARHGEF18-related disorder, Inborn genetic diseases
RS531485265 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS531487054 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS531490912 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS531497232 RIMS1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS531501340 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H
RS531503349 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS531513127 CDH23 Health Risk Conflicting classifications of pathogenicity Meniere disease, Meniere disease
RS531522772 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS531526435 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS531527716 KIAA0586 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS531533787 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS531535217 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS531536885 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Familial thyroid dyshormonogenesis
RS531538384 CYP4V2 Health Risk Conflicting classifications of pathogenicity Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
RS531540031 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS531544101 ATP5F1D Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
RS531548042 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS531550505 NIPA1 Health Risk risk factor Hereditary spastic paraplegia 6, Hereditary spastic paraplegia
RS531561069 ERCC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS531567604 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS531579082 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS531584619 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiofaciocutaneous syndrome 4
RS531590921 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS531593902 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS531596059 CACNA1G Health Risk Conflicting classifications of pathogenicity —
RS531598856 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS531602352 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS531610168 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS531612776 ZNF469 Health Risk Conflicting classifications of pathogenicity ZNF469-related disorder, Cardiovascular phenotype
RS531614845 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS531615515 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS531617441 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS531617542 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS531618541 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS531630376 PCDH12 Health Risk Likely pathogenic Cerebellar ataxia, Dystonic disorder
RS531636923 PRKCSH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS531640505 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS531640605 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS531640725 EYS Health Risk Pathogenic —
RS531648685 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS531650682 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS531656357 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS531658524 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg
RS531662858 NOBOX Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 5, Inborn genetic diseases
RS531674673 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS531677961 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS531682785 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, CTSD-related disorder
RS531683812 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS531684936 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS531692437 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS531694454 SCN4A Health Risk Conflicting classifications of pathogenicity Potassium-aggravated myotonia, Hypokalemic periodic paralysis
RS531705054 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS531711677 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS531713008 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS531732438 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS531738678 BCHE Health Risk Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS531738916 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS531744363 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS531748591 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS531754497 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS531765635 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS531772882 TG Health Risk Pathogenic —
RS531777637 OCA2 Health Risk Conflicting classifications of pathogenicity OCA2-related disorder, Inborn genetic diseases
RS531780795 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS531782747 GRIN2A Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Landau-Kleffner syndrome
RS531783337 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Inborn genetic diseases
RS531800013 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS531815578 FGF23 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS531816975 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS531822235 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS531823936 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS531827528 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS531838785 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS531850849 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS531851010 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS531851447 CABP4 Health Risk Pathogenic Cone dystrophy, Retinal dystrophy
RS531859344 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS531862402 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome
RS531873434 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS531876613 SLC19A3 Health Risk Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS531877510 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 17, Cardiovascular phenotype
RS531879999 SPEG Health Risk Conflicting classifications of pathogenicity SPEG-related disorder, SPEG-related disorder
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