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
RS376226764 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS376226977 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS376227770 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS376229086 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS376229612 LMX1B Health Risk Conflicting classifications of pathogenicity Kidney disorder, LMX1B-related disorder
RS376229687 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376229714 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS376229898 ALG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ALG2-congenital disorder of glycosylation
RS376230356 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS376231357 CLTC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376231681 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS376231923 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6
RS376232524 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS376232862 CRPPA Health Risk Conflicting classifications of pathogenicity Congenital Muscular Dystrophy, alpha-dystroglycan related
RS376232909 RAB27A Health Risk Conflicting classifications of pathogenicity Griscelli syndrome type 2, Griscelli syndrome type 2
RS376233244 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS376233499 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS376233583 FREM2 Health Risk Pathogenic —
RS376233776 PDE6A Health Risk Pathogenic —
RS376233975 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS376234357 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS376234802 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS376236418 PCNT Health Risk Conflicting classifications of pathogenicity —
RS376236888 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS376237905 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS376238937 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS376239580 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS376241522 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS376241938 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS376242128 ABHD12 Health Risk Conflicting classifications of pathogenicity —
RS376242225 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376242323 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376242705 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS376243211 FANCE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fanconi anemia complementation group E
RS376243329 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS376244358 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS376244626 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS376244873 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS376245108 PNPLA1 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosiform erythroderma, Congenital ichthyosiform erythroderma
RS376245210 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS376247953 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS376248072 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS376248130 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS376248857 CYP11B2 Health Risk Likely pathogenic CYP11B2-related disorder, CYP11B2-related disorder
RS376249157 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS376249586 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS376250460 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS376251309 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS376252134 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376252276 DNAI1 Health Risk Pathogenic Kartagener syndrome, Primary ciliary dyskinesia
RS376255193 FBXO38 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS376255350 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis
RS376255453 TERT Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Dyskeratosis congenita
RS376255565 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS376256147 IGHM Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS376256852 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS376257064 PIGV Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376257286 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS376258046 GHRHR Health Risk Pathogenic —
RS376258328 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, EIF2B5-related disorder
RS376258383 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS376258647 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS376259384 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS376259620 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS376260223 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, FH-related disorder
RS376260443 ARID5A Health Risk Conflicting classifications of pathogenicity ARID5A-related disorder, ARID5A-related disorder
RS376260777 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHD8-related disorder
RS376261237 SH2B3 Health Risk Pathogenic Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
RS376262014 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS376262153 SPTBN5 Health Risk Conflicting classifications of pathogenicity —
RS376262461 LAMC3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS376262583 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS376262894 SPP2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS376263149 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS376265187 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS376265227 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS376265325 KDM1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KDM1A-related disorder
RS376265443 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella syndrome
RS376265745 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS376266262 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS376266401 TERT Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Pulmonary fibrosis and/or bone marrow failure
RS376266682 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS376267080 MYH14 Health Risk Conflicting classifications of pathogenicity MYH14-related disorder, MYH14-related disorder
RS376267466 SHANK2 Health Risk Conflicting classifications of pathogenicity —
RS376268002 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS376268211 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS376268338 LRRC8A Health Risk Conflicting classifications of pathogenicity —
RS376268669 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS376269256 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS376269740 WDR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376270109 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS376270303 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, ALS2-related disorder
RS376271163 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Inborn genetic diseases
RS376271434 YY1 Health Risk Conflicting classifications of pathogenicity Gabriele de Vries syndrome, Inborn genetic diseases
RS376271562 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Pituitary adenoma 5
RS376273101 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS376273379 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Genitopatellar syndrome
RS376273679 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCG-related disorder
RS376275864 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS376276056 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
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