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
RS759646328 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS759646439 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS759646708 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS759646819 NEU1 Health Risk Likely pathogenic —
RS759646845 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS759647230 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS759648976 TTC21B Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS759649053 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS759649059 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS759649136 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS759650325 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS759652500 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759653224 ALOX12B Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS759653444 KDM3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759654665 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS759655692 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS759656065 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759656227 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS759656254 NLGN3 Health Risk Conflicting classifications of pathogenicity —
RS759656684 NDUFS1 Health Risk Conflicting classifications of pathogenicity —
RS759656981 HERC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759657187 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS759657964 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS759658215 COQ9 Health Risk Pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS759658629 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS759660507 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS759660796 PKP2 Health Risk Conflicting classifications of pathogenicity Ventricular tachycardia, Arrhythmogenic right ventricular dysplasia 9
RS759662469 IFT74 Health Risk Likely pathogenic Jeune thoracic dystrophy, Inborn genetic diseases
RS759662695 CRB1 Health Risk Pathogenic Early-onset retinal dystrophy, Leber congenital amaurosis 8
RS759662717 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS759662786 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS759663463 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS759663956 MCPH1 Health Risk Pathogenic/Likely pathogenic Microcephaly 1, primary
RS759664259 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Juvenile neuronal ceroid lipofuscinosis
RS759665242 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS759665328 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759665341 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS759665516 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS759666274 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS759666789 CYP11B2 Health Risk Pathogenic —
RS759667201 RFXANK Health Risk Pathogenic/Likely pathogenic MHC class II deficiency, MHC class II deficiency 2
RS759667344 SLC4A11 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS759667494 LPIN2 Health Risk Pathogenic/Likely pathogenic Majeed syndrome, Majeed syndrome
RS759668154 ADGRV1 Health Risk Pathogenic/Likely pathogenic Febrile seizures, familial
RS759668583 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS759668652 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS759669801 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia
RS759672616 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS759673011 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759674249 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS759674700 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS759675006 CEP104 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 77
RS759676430 CFI Health Risk Pathogenic/Likely pathogenic/Pathogenic, low penetrance Atypical hemolytic-uremic syndrome, CFI-related disorder
RS759676621 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS759676847 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS759677822 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS75967811 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS759678346 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS759678509 BEST1 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
RS759679443 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS759679579 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS759679732 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS759680369 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS759680428 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS759680619 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS759680878 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS759682922 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS759683649 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS759684383 TOGARAM1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome 37
RS759685032 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS759686216 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759686739 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy
RS759687021 COMP Health Risk Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
RS759687469 CAD Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 50
RS759688621 ALMS1 Health Risk Pathogenic —
RS759689002 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS759689776 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS759690535 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS759692350 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS759692592 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS759692686 VPS41 Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive 29
RS759692888 DIABLO Health Risk Conflicting classifications of pathogenicity —
RS759694252 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS759694605 FOXH1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly sequence, Inborn genetic diseases
RS759694779 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS759696323 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS759698959 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS759699162 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS759699355 GALK1 Health Risk Pathogenic Deficiency of galactokinase, GALK1-related disorder
RS759701000 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS759703047 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS759703272 PARK7 Health Risk Likely pathogenic —
RS759705666 INSR Health Risk Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS759706198 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS759706334 RORA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759706360 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS759707001 TRIM32 Health Risk Conflicting classifications of pathogenicity Sarcotubular myopathy, Bardet-Biedl syndrome 11
RS759707174 ADGRV1 Health Risk Pathogenic —
RS759707480 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, RP1-related disorder
RS759707498 GBE1 Health Risk Conflicting classifications of pathogenicity GBE1-related disorder, Glycogen storage disease
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