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
RS199759978 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 28, Inborn genetic diseases
RS199760437 FLNB Health Risk Conflicting classifications of pathogenicity —
RS199760739 POP1 Health Risk Pathogenic —
RS199761238 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS199761451 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS199761505 TJP2 Health Risk Conflicting classifications of pathogenicity Cholestasis, progressive familial intrahepatic
RS199761604 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS199761611 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS199761749 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS199761861 OTX2 Health Risk Conflicting classifications of pathogenicity Syndromic microphthalmia type 5, Pituitary hormone deficiency
RS199761901 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199761905 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS199762166 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS199762751 CANT1 Health Risk Pathogenic/Likely pathogenic —
RS199762799 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS199762900 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 26
RS199763065 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199763090 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199763277 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS199763382 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS199763682 ETFA Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS199763912 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS199764052 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS199764888 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Inborn genetic diseases
RS199765304 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
RS199765802 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS199765826 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS199766341 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS199766420 UGT1A1 Health Risk Conflicting classifications of pathogenicity Crigler-Najjar syndrome, Gilbert syndrome
RS199766465 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Nonsyndromic genetic hearing loss
RS199766569 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Ichthyosis
RS199766792 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199766847 ICOSLG Health Risk Conflicting classifications of pathogenicity —
RS199767035 TJP2 Health Risk Conflicting classifications of pathogenicity Cholestasis, progressive familial intrahepatic
RS199767457 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS199767556 RAD21 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 4, Inborn genetic diseases
RS199767765 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS199768081 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS199768095 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS199768217 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS199768620 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS199768740 GRIP1 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Fraser syndrome 3
RS199768782 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS199769082 TENM3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gastric cancer
RS199769221 PRSS1 Health Risk Likely pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS199769508 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS199769524 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS199769617 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS199770001 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS199770033 SLC25A20 Health Risk Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS199770158 CEP290 Health Risk Conflicting classifications of pathogenicity CEP290-related ciliopathies, Joubert syndrome
RS199770715 DTNBP1 Health Risk Conflicting classifications of pathogenicity —
RS199770930 MYORG Health Risk Conflicting classifications of pathogenicity Basal ganglia calcification, idiopathic
RS199770942 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS199771303 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Amenorrhea
RS199771406 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS199771569 NTHL1 Health Risk Conflicting classifications of pathogenicity —
RS199771745 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS199772097 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Retinitis pigmentosa
RS199772480 MAGEL2 Health Risk Conflicting classifications of pathogenicity Schaaf-Yang syndrome, Inborn genetic diseases
RS199772721 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS199772748 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS199772834 REL Health Risk Conflicting classifications of pathogenicity —
RS199772877 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS199772906 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Ischemic stroke
RS199773340 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS199773611 CEP152 Health Risk Likely pathogenic CEP152-related disorder, CEP152-related disorder
RS199773890 HSF4 Health Risk Conflicting classifications of pathogenicity Cataract 5 multiple types, Inborn genetic diseases
RS199774121 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS199774231 KCNH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS199774302 ARSG Health Risk Conflicting classifications of pathogenicity ARSG-related disorder, ARSG-related disorder
RS199774490 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS199774535 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS199775075 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS199775294 LIFR Health Risk Pathogenic/Likely pathogenic Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1
RS199775302 GCLC Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS199775670 SREBF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199775692 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Inborn genetic diseases
RS199775873 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E
RS199776076 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS199776135 DARS1 Health Risk Conflicting classifications of pathogenicity DARS1-related disorder, Ovarian serous cystadenocarcinoma
RS199776253 TMEM231 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 11
RS199776435 PKD1L1 Health Risk Likely pathogenic PKD1L1-related disorder, PKD1L1-related disorder
RS199776442 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS199776454 ATP2A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cervical cancer
RS199776656 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS199776761 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS199777072 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS199777734 PAX9 Health Risk Conflicting classifications of pathogenicity Hypodontia, Tooth agenesis
RS199777870 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Adams-Oliver syndrome 5
RS199777941 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS199778216 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Wilms tumor 1
RS199778260 AGK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sengers syndrome
RS199778910 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199778972 BDP1 Health Risk Conflicting classifications of pathogenicity —
RS199779021 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS199779059 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS199779214 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS199780189 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS199780452 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
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