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
RS745432757 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS745433225 GNAS Health Risk Conflicting classifications of pathogenicity GNAS-related disorder, GNAS-related disorder
RS745434198 COL11A2 Health Risk Likely pathogenic Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS74543584 MPZL2 Health Risk Conflicting classifications of pathogenicity MPZL2-related disorder, Hearing loss
RS745435992 CD40 Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 3, Hyper-IgM syndrome type 3
RS745439347 GATA2 Health Risk Pathogenic/Likely pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS745439506 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS745439844 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS745441870 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS745442249 PRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS745442468 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS745442558 FLNC Health Risk Conflicting classifications of pathogenicity FLNC-related disorder, Cardiovascular phenotype
RS745444591 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745444834 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS745448272 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS745448288 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS745448468 FOXP1 Health Risk Pathogenic Familial prostate cancer, Familial prostate cancer
RS745451424 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Epilepsy due to perinatal stroke, Developmental and epileptic encephalopathy
RS745451899 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS745452531 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS745452577 HSPG2 Health Risk Conflicting classifications of pathogenicity Childhood-onset schizophrenia, Schwartz-Jampel syndrome
RS745452621 HCN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS745452743 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS745453087 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS745453685 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS745454291 HEXB Health Risk Conflicting classifications of pathogenicity —
RS745455816 ELANE Health Risk Pathogenic ELANE-related disorder, Cyclical neutropenia
RS745456776 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS745456980 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS745457069 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS745457191 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3
RS745457570 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS745458338 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS74545891 TRPA1 Health Risk Conflicting classifications of pathogenicity —
RS745459635 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS745460952 MAFB Health Risk Likely pathogenic Orofacial cleft 1, Orofacial cleft 1
RS745461381 MERTK Health Risk Conflicting classifications of pathogenicity Retinal disorder, Retinal disorder
RS745461413 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Atelosteogenesis type III
RS74546166 RNASET2 Health Risk Conflicting classifications of pathogenicity Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS745461983 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS745462573 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS745462674 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS745463649 RELB Health Risk Pathogenic Immunodeficiency 53, Immunodeficiency 53
RS745463889 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS745464654 VPS13A Health Risk Pathogenic —
RS745464766 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS745464770 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS745465871 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745465894 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS745467552 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS745467709 CTC1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS745467835 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS745468033 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS745472969 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS745475077 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS745476291 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS745476328 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS745476881 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS745477056 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS745477350 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS745477465 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS745479104 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS745480657 ALOXE3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS745483465 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS745484177 TFRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745486206 PCARE Health Risk Pathogenic —
RS745486661 POLE Health Risk Conflicting classifications of pathogenicity —
RS745486923 WDR35 Health Risk Likely pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS745487097 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS745487791 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS745488276 TTN Health Risk Conflicting classifications of pathogenicity —
RS745488329 FLNC Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement
RS745489489 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS745490594 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS745490663 PRIMA1 Health Risk Conflicting classifications of pathogenicity Familial sleep-related hypermotor epilepsy, Familial sleep-related hypermotor epilepsy
RS745490729 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 4
RS745492616 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS745493076 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, FLNB-related disorder
RS745494615 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Nephronophthisis
RS745495162 PROM1 Health Risk Likely pathogenic —
RS745495583 DNAAF1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS745495679 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS745495865 FANCF Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia
RS745496687 CD40 Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 3, Hyper-IgM syndrome type 3
RS745496986 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS745497072 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS745497215 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Cardiovascular phenotype
RS745497694 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS745498011 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS745498103 DHCR7 Health Risk Likely pathogenic —
RS745500617 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS745501384 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS745501673 DDX11 Health Risk Pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS745502213 MEIOB Health Risk Pathogenic —
RS745502369 ASL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Argininosuccinate lyase deficiency
RS745504273 TOPORS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745505490 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS745506887 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS745507181 DNMT3B Health Risk Pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS745507536 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
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