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
RS374444423 ADAMTS13 Health Risk Conflicting classifications of pathogenicity ADAMTS13-related disorder, Upshaw-Schulman syndrome
RS374444950 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS374445066 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish type amyloidosis
RS374445349 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS374447879 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
RS374447921 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS374448795 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS374448845 COASY Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 6, COASY-Related Disorders
RS374448993 PIK3R2 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS374449188 LIAS Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Inborn genetic diseases
RS374449452 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374449657 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374449943 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS374450416 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS374450718 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS374450869 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS374452484 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS374452942 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS374453035 FGF3 Health Risk Pathogenic/Likely pathogenic Deafness with labyrinthine aplasia, microtia
RS374453187 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS374453976 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS374453977 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS374454045 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS374454501 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS374455045 TECTA Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 21
RS374456899 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS374456909 CD3E Health Risk Conflicting classifications of pathogenicity Immunodeficiency 18, Immunodeficiency 18
RS3744574 DNAH9 Health Risk Conflicting classifications of pathogenicity DNAH9-related disorder, Inborn genetic diseases
RS374457534 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS374457871 SPTBN2 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
RS374458858 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS374459540 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
RS374461212 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS374461463 AVPR2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS374462247 NHS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nance-Horan syndrome
RS374463976 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS374464049 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS374464240 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS374465425 CACNB2 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, Brugada syndrome 4
RS374465457 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS374465656 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS374466769 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374467239 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS374468002 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS374470794 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS374471192 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS374471570 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS374472044 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS374472758 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS374472902 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374473067 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS374473310 FGFR1 Health Risk Conflicting classifications of pathogenicity Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS374473331 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS374474061 LOXHD1 Health Risk Conflicting classifications of pathogenicity LOXHD1-related disorder, Autosomal recessive nonsyndromic hearing loss 77
RS374474227 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS374476196 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS374476287 CAMK2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 54
RS374476448 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS374476702 SHANK2 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS374476865 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS374476971 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS374477689 EPB41L1 Health Risk Conflicting classifications of pathogenicity —
RS374479008 SUCLA2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS374479609 LIPC Health Risk Conflicting classifications of pathogenicity Hyperlipidemia due to hepatic triglyceride lipase deficiency, Hyperlipidemia due to hepatic triglyceride lipase deficiency
RS374479775 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374479892 SLC26A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS374480381 ATP6V0A2 Health Risk Pathogenic/Likely pathogenic Cutis laxa with osteodystrophy, Wrinkly skin syndrome
RS374480468 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16
RS3744824 SETBP1 Health Risk Conflicting classifications of pathogenicity Schinzel-Giedion syndrome, Malignant lymphoma
RS374485519 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS374485649 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374485752 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS374486449 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS374486989 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS374489111 NPC2 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C2
RS374489513 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS374489702 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS374489979 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS374490206 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS374490688 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS374490896 SZT2 Health Risk Conflicting classifications of pathogenicity —
RS374492441 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, MYO7A-related disorder
RS374492597 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS374492812 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374493032 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS374493286 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS374493565 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS374493881 TTN Health Risk Conflicting classifications of pathogenicity —
RS374494800 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS374494927 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374496494 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS374497013 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS374497665 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374498633 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS374499169 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CREBBP-related disorder
RS374499278 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa
RS374500158 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS374500860 VPS13C Health Risk Conflicting classifications of pathogenicity —
RS374501251 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374501252 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCN1A-related disorder
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