SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS781723641 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS781724800 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS781724933 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS781724995 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS781725943 GUCY2D Health Risk Pathogenic Leber congenital amaurosis, Cone-rod dystrophy 6
RS781727577 OCA2 Health Risk Pathogenic OCA2-related disorder, OCA2-related disorder
RS781728563 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Leber congenital amaurosis
RS781730381 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS781730571 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS781730798 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS781731042 TBX1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tetralogy of Fallot
RS781731620 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS781731675 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS781731683 TREX1 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS781732915 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS781734224 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS781734780 JAG2 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS781734969 TTN Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS781735051 SCLT1 Health Risk Pathogenic —
RS781735457 LTBP4 Health Risk Pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS781735632 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS781736462 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS781736642 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS781736766 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS781737138 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781737632 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS781738239 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS781738812 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS781740739 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Polycystic kidney disease 4
RS781740936 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS781741013 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS781741390 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS781741533 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS781741877 TUSC3 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS781744173 TPP1 Health Risk Conflicting classifications of pathogenicity —
RS781744343 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS781744583 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS781744898 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS781745214 AMHR2 Health Risk Pathogenic Male pseudohermaphroditism, Persistent Mullerian duct syndrome
RS781745727 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS781746113 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Intellectual disability
RS781746721 TUBGCP6 Health Risk Conflicting classifications of pathogenicity —
RS781748056 LPIN1 Health Risk Pathogenic/Likely pathogenic Myoglobinuria, acute recurrent
RS781748062 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS78174819 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS781748460 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS781748603 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS781748998 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
RS781749103 CNGB3 Health Risk Conflicting classifications of pathogenicity Colon adenocarcinoma, Colon adenocarcinoma
RS781752418 SERPINF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781752990 KIF7 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Acrocallosal syndrome
RS781754253 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS781755529 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS781756056 ADSS1 Health Risk Pathogenic —
RS781756159 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS781757715 COL4A6 Health Risk Conflicting classifications of pathogenicity COL4A6-related disorder, COL4A6-related disorder
RS781759073 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS781760379 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy
RS781760462 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS781760817 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS781761299 CARS1 Health Risk Conflicting classifications of pathogenicity Microcephaly, developmental delay
RS781761645 BIRC6 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS781762135 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS781763239 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS781763471 SKIC2 Health Risk Likely pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS781764487 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish type amyloidosis
RS781764920 SDHA Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Hereditary cancer-predisposing syndrome
RS781767219 ALDH6A1;BBOF1 Health Risk Conflicting classifications of pathogenicity Methylmalonate semialdehyde dehydrogenase deficiency, Inborn genetic diseases
RS781767722 GJB2 Health Risk Pathogenic IFAP syndrome 1, with or without BRESHECK syndrome
RS781768965 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS781769616 SLC52A3 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS781769655 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Inborn genetic diseases
RS781769954 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS781770416 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS781770571 SEC23B Health Risk Pathogenic/Likely pathogenic Cowden syndrome 7, Congenital dyserythropoietic anemia
RS781771361 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS781771386 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS781772588 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS781773351 RUSC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 61
RS781774131 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS781774179 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781774786 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS781774834 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS781775348 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS781776246 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS781776791 LZTR1 Health Risk Conflicting classifications of pathogenicity LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome
RS781777052 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS781777662 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schaaf-Yang syndrome
RS781778855 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS78177919 CACNA1B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
RS781780538 HSF2BP Health Risk Likely pathogenic Premature ovarian failure 19, Premature ovarian failure 19
RS781780574 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS781781440 CDHR1 Health Risk Pathogenic Cone-rod dystrophy 15, Leber congenital amaurosis
RS781782783 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS781783048 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS781783107 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781784237 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS781784543 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS781785034 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Frontometaphyseal dysplasia
RS781785267 OPLAH Health Risk Conflicting classifications of pathogenicity 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
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