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
RS762051422 FLNC Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement
RS762052051 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS762052702 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS762053925 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS762054841 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS762055707 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762055797 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS762056074 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS762058420 C3 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
RS762059806 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS762060470 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS762060755 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS762060817 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS762061869 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS762062043 ERBB2 Health Risk Conflicting classifications of pathogenicity Visceral neuropathy, familial
RS762062274 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS762062705 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS762065361 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS762065822 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS762065937 ABCA12 Health Risk Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS762066700 AP5Z1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS762066977 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762067222 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS762067290 REV3L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762067626 MESP2 Health Risk Likely pathogenic Spondylocostal dysostosis 2, autosomal recessive
RS762067787 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS762069191 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Inborn genetic diseases
RS762069628 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS762069884 PCDH19 Health Risk Pathogenic Seizure, Seizure
RS762070900 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS762071902 TNFRSF4 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to OX40 deficiency, Combined immunodeficiency due to OX40 deficiency
RS762071973 GDF5 Health Risk Pathogenic —
RS762072069 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS762072595 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes-Brocks syndrome 1
RS762073383 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS762073822 EXT2 Health Risk Pathogenic —
RS762074022 ZFP57 Health Risk Likely pathogenic ZFP57-related disorder, Diabetes mellitus
RS762075088 WFS1 Health Risk Pathogenic/Likely pathogenic —
RS762076975 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762077987 NOTCH1 Health Risk Conflicting classifications of pathogenicity —
RS762078094 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, LYST-related disorder
RS762078182 PROM1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS762078299 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS762079110 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS762079123 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS762080553 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS762081081 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS762081490 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS762081862 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS762082451 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS762082964 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS762083094 COQ4 Health Risk Likely pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS762083530 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS762084007 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS762084565 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS762085901 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS762087308 SLC25A10 Health Risk Likely pathogenic See cases, See cases
RS762087385 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa
RS762088543 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762088627 MYO3A Health Risk Pathogenic —
RS762088983 SPTA1 Health Risk Pathogenic Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS762089284 PHKG2 Health Risk Likely pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS762089407 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS762089425 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Permanent neonatal diabetes mellitus
RS762089971 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS762090058 POLE Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia
RS762090105 NKX2-5 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Atrial septal defect 7
RS762090852 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS762091081 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS762092284 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS762093483 PTRH2 Health Risk Likely pathogenic —
RS762093523 NDUFAF6 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Mitochondrial complex I deficiency
RS762094056 ADAR Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS762094907 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS762096305 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS762096939 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS762097856 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS762098368 C6 Health Risk Pathogenic —
RS762099392 XPC Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS762099920 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS762100304 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS762100538 GRID2 Health Risk Conflicting classifications of pathogenicity —
RS762101560 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS762103625 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS762103704 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS762104169 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS762104739 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS762105711 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS762105733 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS76210637 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity
RS762106720 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS762106764 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS762108847 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS762108965 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS762110595 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS762110822 MYO15A Health Risk Pathogenic/Likely pathogenic MYO15A-related disorder, MYO15A-related disorder
RS762111359 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS762111552 SPTB Health Risk Pathogenic —
RS762111572 IFT140 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 80
RS762112077 ADAMTS13 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
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