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
RS557152369 EYS Health Risk Pathogenic —
RS557157592 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS55716016 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS557160401 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS557160758 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Type 2 diabetes mellitus
RS557164942 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS557165533 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS55716624 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS557166582 EDAR Health Risk Pathogenic/Likely pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS557167678 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS557172581 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS557173577 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS55717426 FBN1 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Geleophysic dysplasia
RS55717455 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS557179508 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS557182925 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS557182938 RNASEL Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS55719336 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS55719759 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS557198622 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS55720039 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS557203949 PLXNA1 Health Risk Conflicting classifications of pathogenicity Dworschak-Punetha neurodevelopmental syndrome, Dworschak-Punetha neurodevelopmental syndrome
RS557208468 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS557211301 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS557212203 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS55721363 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS557217738 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS557225127 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS557225435 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS557226166 PDE4D Health Risk Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
RS557230272 KCTD17 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 26, Inborn genetic diseases
RS55723361 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS557241012 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiofaciocutaneous syndrome 1
RS55724159 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS557241976 GRM1 Health Risk Conflicting classifications of pathogenicity —
RS55724504 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS557249203 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS55725216 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS557252541 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS55725279 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS55725290 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS55725337 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS557254350 PLEKHG2 Health Risk Conflicting classifications of pathogenicity —
RS557263443 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS557275294 MIPEP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS557276848 MECOM Health Risk Conflicting classifications of pathogenicity MECOM-related disorder, Inborn genetic diseases
RS557277528 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS557282296 RXYLT1 Health Risk Pathogenic/Likely pathogenic —
RS557284122 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS557289756 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS557292146 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS557294831 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS55729925 CD247 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 25, CD247-related disorder
RS557303948 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS55730620 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS557311093 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS557312035 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS557317141 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS557317492 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS557322255 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS55732384 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS557327165 HSPB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease
RS557328600 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS557331348 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS557334390 SHOC2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1
RS557336321 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS557339938 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS557340983 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS55734111 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS557341981 CTNND2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS557344672 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS557347733 CPLANE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS557350925 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS557351664 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS557358714 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS557361751 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS55736268 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS557362799 FBLN5 Health Risk Conflicting classifications of pathogenicity Macular degeneration, age-related
RS557372169 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS55737343 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS557374103 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS557375681 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Short-rib thoracic dysplasia 10 with or without polydactyly
RS557379500 VWF Health Risk Conflicting classifications of pathogenicity —
RS557379530 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS557380928 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS557390242 FGF14 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 27, Spinocerebellar ataxia type 27
RS557407004 DYM Health Risk Conflicting classifications of pathogenicity Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 1
RS55741021 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Alternating hemiplegia of childhood 1
RS557412758 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS557416644 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Distal spinal muscular atrophy
RS557432569 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS557437764 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS557441143 MYO6 Health Risk Pathogenic MYO6-related disorder, Inborn genetic diseases
RS55744500 USH1G Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1G, Usher syndrome type 1G
RS557446829 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS557448772 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Dystonia 27
RS557449314 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS557452648 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS557453599 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS557455283 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, CIITA-related disorder
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