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
RS764739691 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS764740388 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS764741909 F7 Health Risk Pathogenic/Likely pathogenic Congenital factor VII deficiency, Myocardial infarction
RS764742792 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia
RS764742900 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart
RS764743124 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS764743402 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS764743602 FLNB Health Risk Conflicting classifications of pathogenicity Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS764743944 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS764744058 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS764744217 ABCA4 Health Risk Pathogenic —
RS764744442 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS764745147 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS764745197 LRBA Health Risk Pathogenic Severe combined immunodeficiency due to CORO1A deficiency, Combined immunodeficiency due to LRBA deficiency
RS764745270 LAMA1 Health Risk Pathogenic/Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Lung cancer
RS764745583 DUOX2 Health Risk Pathogenic —
RS764745826 ZNF469 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS764746483 PKD1 Health Risk Pathogenic —
RS764747360 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS764747885 DGKE Health Risk Pathogenic/Likely pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis, Atypical hemolytic-uremic syndrome
RS764747992 GATA2 Health Risk Pathogenic/Likely pathogenic GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome
RS76474829 RBPJL Health Risk risk factor Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS764748646 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS764749298 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS764749582 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS764749700 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS764750338 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS764750389 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS764752384 COL4A4 Health Risk Pathogenic —
RS764753165 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS764753481 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
RS764753729 NHERF1 Health Risk Conflicting classifications of pathogenicity —
RS764754259 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS764754702 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS764755360 VWF Health Risk Pathogenic —
RS764755556 HRAS Health Risk Pathogenic/Likely pathogenic Costello syndrome, Costello syndrome
RS764755602 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS764756525 CYP11B2 Health Risk Pathogenic —
RS764757576 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS764757647 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS764758291 STXBP1 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Inborn genetic diseases
RS764758292 CD79A Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 3, autosomal recessive
RS764758535 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS764759172 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Stargardt disease
RS764759588 CA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS764759689 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS764760238 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS764761319 AMHR2 Health Risk Pathogenic Persistent mullerian duct syndrome, type II
RS764761862 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, 8 conditions
RS764762208 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS764765550 HAX1 Health Risk Likely pathogenic Kostmann syndrome, Kostmann syndrome
RS764765574 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS764766115 SLC5A1 Health Risk Likely pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS764766872 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS764767201 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS764768999 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS764769351 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS76476980 HADH Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS764770160 FIG4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome
RS764770536 IFT140 Health Risk Pathogenic Joubert syndrome with Jeune asphyxiating thoracic dystrophy, Saldino-Mainzer syndrome
RS764771123 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS764771218 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS764771898 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS764772142 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS764772232 TUBGCP6 Health Risk Conflicting classifications of pathogenicity —
RS764772735 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS764775012 PLEKHM2 Health Risk Conflicting classifications of pathogenicity —
RS764775903 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS764776104 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS764776276 APOB Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS764776501 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS764777213 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS764778419 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS764778741 KCNJ1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 2, Bartter syndrome
RS764779088 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS764779161 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS764779350 OTOA Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22
RS764779610 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS764779784 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS764780126 BLOC1S5 Health Risk Likely pathogenic BLOC1S5-related disorder, BLOC1S5-related disorder
RS764781178 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, Lamellar ichthyosis
RS764781840 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS764782020 CCDC88C Health Risk Pathogenic —
RS764782713 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Piebaldism
RS764782945 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS764783539 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS764783865 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS764784077 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS764784295 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS764784497 B3GALNT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS764785216 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS764785488 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), Zellweger spectrum disorders
RS764786977 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS764786986 TMEM230 Health Risk Pathogenic —
RS764787339 C3orf52 Health Risk Pathogenic Hypotrichosis 15, Hypotrichosis 15
RS764787649 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS764787942 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS764788201 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS764788925 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS764789036 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
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