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
RS552452448 POLE Health Risk Conflicting classifications of pathogenicity Polymerase proofreading-related adenomatous polyposis, Hereditary cancer-predisposing syndrome
RS552455660 RHO Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa
RS552465576 SARS2 Health Risk Conflicting classifications of pathogenicity —
RS552470353 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS552476047 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS552476248 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS552478740 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3
RS552479532 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552482009 ITGB4 Health Risk Conflicting classifications of pathogenicity —
RS552489480 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS552496175 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS552496938 PROK2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder
RS552500897 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS552501265 CEP97 Health Risk Conflicting classifications of pathogenicity —
RS552505619 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS552505690 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS552508881 RNF207 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS552516182 RDH12 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 13
RS552517556 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa
RS552526845 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS552529075 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552529704 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS552531581 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS552533838 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS552538259 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS552541075 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS552547778 SOX4 Health Risk Conflicting classifications of pathogenicity SOX4-related disorder, Coffin-Siris syndrome 10
RS552551256 USH2A Health Risk Conflicting classifications of pathogenicity —
RS552553452 CNGA3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Achromatopsia 2
RS552555328 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552561721 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
RS552561992 KRT5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552562531 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552562610 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS552567607 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS552577704 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS552581027 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS552581393 TTC5 Health Risk Likely pathogenic Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
RS552582918 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schaaf-Yang syndrome
RS552583527 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome 2
RS552590923 GFAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alexander disease
RS552602290 APC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, APC2-related disorder
RS552606315 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS552610464 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS552611500 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS552613359 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS552623597 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS552625719 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS552634753 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS552637666 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS552644535 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, CEP104-related disorder
RS552660376 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS552662894 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS552676865 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS552689119 COXFA4 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 21
RS552701854 CABP4 Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome
RS552703360 ASXL3 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS552706223 RBP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552708120 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS552713184 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS552716935 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS552722349 NUBPL Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 21
RS552723791 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS552723932 INTS1 Health Risk Conflicting classifications of pathogenicity —
RS552725260 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS552745605 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS552751331 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS552752779 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS552758282 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS552760651 CEP120 Health Risk Pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS552776147 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS552778606 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS552782157 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS552793888 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS552803459 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS552806334 TRIM8 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Inborn genetic diseases
RS552807375 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS552808212 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS552812059 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS552813383 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS552813830 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552818441 COL9A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552829713 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS552831415 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS552833222 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS552834368 NME3 Health Risk Conflicting classifications of pathogenicity —
RS552834799 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS552841217 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS552862207 SAG Health Risk Conflicting classifications of pathogenicity —
RS552867155 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS552874184 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS552884641 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS552913880 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS552915392 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS552931444 UBA5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 44
RS552937899 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS552938924 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS552941425 AGPAT2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1, Inborn genetic diseases
RS552944283 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS552946889 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
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