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
RS375254227 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS375254845 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS375254875 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS375256600 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS375256646 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS375256800 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS375257731 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS3752579 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS375257965 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS375258425 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS375258567 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375259151 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS375260339 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS375260513 GRIN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome
RS375260663 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS375261329 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS375261439 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS375261929 AGT Health Risk Conflicting classifications of pathogenicity —
RS375262758 OPLAH Health Risk Conflicting classifications of pathogenicity 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS375262833 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS375262853 MAP3K1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 6
RS375264483 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS375265976 TCOF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Treacher Collins syndrome 1
RS375266253 CARMIL2 Health Risk Conflicting classifications of pathogenicity —
RS375266808 ECHS1 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS375266859 TTN Health Risk Conflicting classifications of pathogenicity Sudden cardiac death, Cardiac arrest
RS375267450 CARMIL2 Health Risk Pathogenic —
RS375267729 RTL1 Health Risk Conflicting classifications of pathogenicity —
RS375268140 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS375268742 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS375268778 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS375272281 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS375272364 FARSA Health Risk Pathogenic Rajab interstitial lung disease with brain calcifications 2, Rajab interstitial lung disease with brain calcifications 2
RS375272767 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS375273894 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases
RS375274122 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS375274586 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS375274868 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375274969 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS375275230 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS375276332 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS375276752 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS375277198 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS375277249 GLI3 Health Risk Conflicting classifications of pathogenicity Polydactyly, Greig cephalopolysyndactyly syndrome
RS375277772 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS375277827 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS375278294 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS375279569 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS375279759 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS375280597 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS375281048 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS375281082 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS375281590 BRAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375282341 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS375282462 SLC2A10 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS375283568 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS375284245 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS375284374 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS375284458 BMP15 Health Risk Pathogenic Ovarian dysgenesis 2, Ovarian dysgenesis 2
RS375284481 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS375284572 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy
RS375284779 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Multiple congenital exostosis
RS375286376 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375286661 ZNF407 Health Risk Conflicting classifications of pathogenicity —
RS375286987 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS375287084 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS375288190 CLCNKB Health Risk Conflicting classifications of pathogenicity Bartter disease type 3, Bartter disease type 4B
RS375288192 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Inborn genetic diseases
RS375288629 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS375288670 MYT1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 39
RS375288744 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Hypomyelinating leukodystrophy 2
RS375289386 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS375289402 MYZAP Health Risk Pathogenic Cardiomyopathy, dilated
RS375289776 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS375290088 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Alport syndrome 3b
RS375290305 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS375290498 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Rare genetic deafness
RS375291254 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS375291296 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS375292548 PREPL Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS375292685 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS375292899 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS375294508 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS375294678 VSX2 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS375294947 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS375296023 PRDM5 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS375296866 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS375297664 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS375297971 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome
RS3752988 CYP2C8 Health Risk association Pulmonary disease, chronic obstructive
RS375299065 ICOS Health Risk Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases, Immunodeficiency
RS375299452 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, ABHD12-related disorder
RS375299740 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS375301243 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS375301415 CLCNKB Health Risk Conflicting classifications of pathogenicity —
RS375301575 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, RAD50-related disorder
RS375302378 EPB41L1 Health Risk Conflicting classifications of pathogenicity —
RS375302438 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS375303389 PCNT Health Risk Pathogenic —
RS375303752 NCKAP1L Health Risk Conflicting classifications of pathogenicity —
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