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
RS763649825 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS763651145 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Inborn genetic diseases
RS763651232 CRX Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Retinitis pigmentosa
RS763651353 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Inborn genetic diseases
RS763651849 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype
RS763652056 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS763652784 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS763653429 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS763654348 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS763654373 TEX15 Health Risk Pathogenic Spermatogenic failure 25, Spermatogenic failure 25
RS763654582 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS763654639 POLH Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum variant type, See cases
RS763655714 SRP72 Health Risk Conflicting classifications of pathogenicity Autosomal dominant aplasia and myelodysplasia, SRP72-related disorder
RS763655831 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS763656384 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763656507 MUSK Health Risk Pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS763656985 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS763657340 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS763658299 RMND1 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS763659581 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS763662038 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS763662108 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS763662774 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS763664351 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS763665120 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS763668057 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS763668385 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS763668545 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS763668912 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS763669136 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS763669401 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Hereditary spastic paraplegia 30
RS763670106 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS763670176 DYNC2I2 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 11 with or without polydactyly, Inborn genetic diseases
RS763670204 SEMA4A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS763670293 ADGRV1 Health Risk Pathogenic/Likely pathogenic Monogenic hearing loss, Febrile seizures
RS763671258 GYS2 Health Risk Pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS763671264 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS763671728 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS763671755 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763672163 MRPS34 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 32, Inborn genetic diseases
RS763673114 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS763674597 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS763674655 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS763675499 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS763676031 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS763676435 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS763677632 TRPM1 Health Risk Likely pathogenic —
RS763677869 WFS1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
RS763678034 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS763678131 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS763678756 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS763679404 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS763679435 TSHR Health Risk Pathogenic —
RS763679772 NOTCH1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Adams-Oliver syndrome 5
RS763680697 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS763680884 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS763682832 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS763683012 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS763685190 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS763685245 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Gastric cancer
RS763685410 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS763685455 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinal dystrophy
RS763685504 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS763685772 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS763685989 ATAD3A Health Risk Conflicting classifications of pathogenicity —
RS763686798 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS763687804 CLPP Health Risk Conflicting classifications of pathogenicity —
RS763688228 MMP9 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
RS763688567 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS763690279 FMO3 Health Risk Pathogenic —
RS763690339 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763693540 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS763694069 RLBP1 Health Risk Pathogenic/Likely pathogenic RLBP1-related disorder, Retinitis pigmentosa
RS763694865 PSAT1 Health Risk Conflicting classifications of pathogenicity PSAT deficiency, Neu-Laxova syndrome 2
RS763695196 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS763695515 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS763696297 WDR73 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Galloway-Mowat syndrome 1
RS763696416 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS763697798 VPS35 Health Risk Conflicting classifications of pathogenicity Parkinson disease 17, Parkinson disease 17
RS763697898 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Retinitis pigmentosa
RS763699437 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS763699668 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS763700481 PSMB10 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5
RS763701580 ERCC2 Health Risk Conflicting classifications of pathogenicity Corpus callosum, agenesis of
RS763702846 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763703697 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS763704831 SPEG Health Risk Likely pathogenic Myopathy, centronuclear
RS763705074 LSS Health Risk Pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS763705148 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763705904 SLC13A3 Health Risk Conflicting classifications of pathogenicity —
RS763706390 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 37, Enhanced S-cone syndrome
RS763706988 DGUOK Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder
RS763707275 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS763708665 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS763709094 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS763709302 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS763709592 POC1A Health Risk Pathogenic POC1A-related syndrome, POC1A-related syndrome
RS763709773 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS763710252 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Cone-rod dystrophy 12
RS76371115 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
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