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
RS529377088 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS529380972 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS529384341 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS529386244 CEP63 Health Risk Conflicting classifications of pathogenicity —
RS529403382 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Arrhythmogenic right ventricular cardiomyopathy
RS529408918 FGFR3 Health Risk Conflicting classifications of pathogenicity Hypochondroplasia, Inborn genetic diseases
RS529427223 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS529430607 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS529437224 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome 9, Meckel-Gruber syndrome
RS529442984 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS529445117 MYOF Health Risk Conflicting classifications of pathogenicity —
RS529448705 GFI1 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS529460241 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS529469325 GALC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency
RS529479120 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, SALL1-related disorder
RS529480368 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS529481040 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS529483320 EYA1 Health Risk Pathogenic Branchiootorenal syndrome 1, Melnick-Fraser syndrome
RS529485424 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8
RS529490835 SLC12A2 Health Risk Conflicting classifications of pathogenicity Kilquist syndrome, Inborn genetic diseases
RS529495094 AP4B1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 47
RS529502292 PYGL Health Risk Pathogenic —
RS529506570 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS529514462 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS529517891 RERE Health Risk Conflicting classifications of pathogenicity RERE-related disorder, Inborn genetic diseases
RS529522213 CDH23;PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency
RS529523595 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS529529087 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS529539963 B4GAT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
RS529542524 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS529543534 SREBF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary mucoepithelial dysplasia
RS529543591 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS529551028 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS529562535 CASQ2 Health Risk Pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS529566924 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS529580146 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Joubert syndrome 8
RS529580583 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Inborn genetic diseases
RS529581775 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 7, Nephronophthisis
RS529588584 ABCC2 Health Risk Pathogenic —
RS529598960 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, ABCA4-related disorder
RS529607771 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder
RS529609184 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS529610837 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS529612835 FAM20C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS529613640 AIMP2 Health Risk Likely pathogenic Neurodevelopmental abnormality, Leukodystrophy
RS529631289 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS529633380 RSPH1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS529637184 ERCC3 Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 2, photosensitive
RS529639313 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS529639381 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS529640892 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS529642370 AP3B2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 48
RS529649181 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS529649802 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS529653924 RAB3GAP2 Health Risk Pathogenic Warburg micro syndrome 2, Martsolf syndrome
RS529656123 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS529657143 TGFBI Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS529659464 ELP2 Health Risk Conflicting classifications of pathogenicity Profound intellectual disability, Intellectual disability
RS529661399 COL4A2 Health Risk Conflicting classifications of pathogenicity COL4A2-related disorder, Inborn genetic diseases
RS529668402 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, LMX1B-related disorder
RS529668674 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS529668782 C8B Health Risk Pathogenic —
RS529676901 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS529683884 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS529693973 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS529700838 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related skeletal myopathy
RS529713209 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS529719024 PSAP Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency
RS529721333 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS529727564 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS529731863 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS529738206 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS529742815 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS529744148 TECTA Health Risk Conflicting classifications of pathogenicity —
RS529755730 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Inborn genetic diseases
RS529755922 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS529756815 LIG4 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency
RS529758377 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS529758698 DTHD1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS529762487 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS529766640 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases
RS529769268 CYP1B1 Health Risk Likely pathogenic Primary congenital glaucoma, Glaucoma 3A
RS529770550 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS529779203 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS529789124 PDE11A Health Risk Conflicting classifications of pathogenicity Pigmented nodular adrenocortical disease, primary
RS529797013 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS529806324 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS529806631 COMP Health Risk Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
RS529824119 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS529827333 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS529827991 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS529829189 REN Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2
RS529829552 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly, type B1Robinow syndrome
RS529836556 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS529839486 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS529842407 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS529845435 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS529848109 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS529850410 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS529855742 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
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