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
RS373551215 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS373551551 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS373551579 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS373552048 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373552185 WHRN Health Risk Conflicting classifications of pathogenicity WHRN-related disorder, WHRN-related disorder
RS373553314 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS373554374 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS373554386 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
RS373555761 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Oculootoradial syndrome
RS373556820 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS373558595 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS373559251 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, COL4A3-related disorder
RS373560827 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS373561182 RNF31 Health Risk Conflicting classifications of pathogenicity —
RS373562040 SLC39A8 Health Risk Conflicting classifications of pathogenicity SLC39A8-CDG, SLC39A8-CDG
RS373562293 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS373562448 GNA11 Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2
RS373563053 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS373563217 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373564353 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS373565051 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS373566578 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS373567910 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS373568007 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Hemorrhage
RS373568560 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373568741 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS373569027 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS373570877 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS373571535 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS373571733 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS373571744 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS373573447 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS373575422 IFITM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373576052 SNAP29 Health Risk Conflicting classifications of pathogenicity CEDNIK syndrome, CEDNIK syndrome
RS373577384 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS373577886 LEMD3 Health Risk Conflicting classifications of pathogenicity Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS373578289 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS373578537 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS373578854 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS373578965 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS373579793 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS373580359 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS373580663 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373581383 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS373581541 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS373581974 TUSC3 Health Risk Conflicting classifications of pathogenicity —
RS373582542 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS373583477 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS373584239 CIC Health Risk Pathogenic Intellectual disability, autosomal dominant 45
RS373584324 MYLK Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic aneurysm
RS373585652 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS373586010 FAT4 Health Risk Conflicting classifications of pathogenicity —
RS373586187 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373586405 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS373587647 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS373587692 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Intellectual disability
RS373588048 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS373589529 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS373590049 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS373590751 AIPL1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 4
RS373590982 KLHL7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS373593599 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373594717 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS373594744 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS373596387 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS3735971 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS373597685 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS373597946 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis
RS373597948 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373598034 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS373599360 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, MYO7A-related disorder
RS373600572 ATR Health Risk Pathogenic —
RS373601229 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS373601944 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS373602064 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS373602123 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Hereditary spastic paraplegia
RS373604132 ARL13B Health Risk Pathogenic/Likely pathogenic Joubert syndrome 8, Joubert syndrome 8
RS373605261 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS373605761 COL9A3 Health Risk Conflicting classifications of pathogenicity COL9A3-related disorder, COL9A3-related disorder
RS373606009 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS373606162 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS373607095 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS373607243 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS373607247 ATP13A2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS373607391 MBTPS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373607825 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS373609219 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS373609932 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS373609971 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder
RS373611083 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS373611722 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS373611984 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS373612587 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS373613022 CIITA Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS373613651 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS373613705 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS373613868 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS373613946 POR Health Risk Pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS373614292 FAM20C Health Risk Conflicting classifications of pathogenicity FAM20C-related disorder, FAM20C-related disorder
RS373614429 SIX5 Health Risk Conflicting classifications of pathogenicity —
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