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
RS141330867 CEP135 Health Risk Conflicting classifications of pathogenicity Microcephaly 8, primary
RS141331848 STAT4 Health Risk Conflicting classifications of pathogenicity STAT4-related disorder, STAT4-related disorder
RS1413323140 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 8
RS1413324756 MMUT Health Risk Pathogenic —
RS1413339367 SLC2A1 Health Risk Pathogenic Inborn genetic diseases, GLUT1 deficiency syndrome 1
RS141334491 MACF1 Health Risk Conflicting classifications of pathogenicity —
RS141334635 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS141335001 ATP2A2 Health Risk Conflicting classifications of pathogenicity Keratosis follicularis, Keratosis follicularis
RS1413352933 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS1413355871 TYR Health Risk Pathogenic —
RS141335669 FMN2 Health Risk Conflicting classifications of pathogenicity FMN2-related disorder, FMN2-related disorder
RS141335706 BCKDK Health Risk Conflicting classifications of pathogenicity Branched-chain keto acid dehydrogenase kinase deficiency, BCKDK-related disorder
RS1413360004 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS141336681 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Hemolytic uremic syndrome
RS141338163 ASPM Health Risk Pathogenic —
RS1413390454 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS141339310 APOB Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS141339355 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS141340188 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS141340198 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS141340466 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS141340479 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS141340759 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, ALOXE3-related disorder
RS141341430 SLC17A5 Health Risk Conflicting classifications of pathogenicity Salla disease, Sialic acid storage disease
RS1413414501 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS141341788 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS141342777 F12 Health Risk Conflicting classifications of pathogenicity Hepatocellular carcinoma, Hepatocellular carcinoma
RS141343307 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS1413433421 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1413442651 P4HTM Health Risk Likely pathogenic —
RS1413442820 AARS2 Health Risk Pathogenic —
RS1413443268 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS141344340 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS141344760 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS141344823 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS141345438 CTSF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuronal ceroid lipofuscinosis 13
RS141345544 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS141346393 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1413464990 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1413469900 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS141347582 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 21
RS141347955 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS141348218 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS141348662 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS141349756 CEP55 Health Risk Conflicting classifications of pathogenicity CEP55-related disorder, CEP55-related disorder
RS141349908 MC2R Health Risk Conflicting classifications of pathogenicity Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS141350047 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1413508649 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS141351035 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS141352021 CATSPER2 Health Risk Conflicting classifications of pathogenicity —
RS1413521064 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS141352486 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS141352776 CENPF Health Risk Likely pathogenic —
RS141353693 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1413537928 CTNNA2 Health Risk Pathogenic Cortical dysplasia, complex
RS1413539097 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1413539816 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS141354235 CREB3L3 Health Risk Conflicting classifications of pathogenicity —
RS141355337 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS141355499 CELSR3 Health Risk Conflicting classifications of pathogenicity —
RS1413565928 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS141356870 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1413569310 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS141356976 COG6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS1413572803 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS141357465 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS141358220 LRRC10 Health Risk Conflicting classifications of pathogenicity —
RS1413587495 NTHL1 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS1413591962 ESCO2 Health Risk Pathogenic/Likely pathogenic Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome
RS141359583 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS141360496 EPRS1 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS141360909 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1413609730 OBSCN Health Risk Likely pathogenic —
RS141361084 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 38, Retinal dystrophy
RS141362710 ATP1A3 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12
RS1413628703 COL6A2 Health Risk Likely pathogenic —
RS141363186 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS1413634373 NRCAM Health Risk Pathogenic NRCAM-related disorder, NRCAM-related disorder
RS141363557 CRPPA Health Risk Conflicting classifications of pathogenicity Congenital Muscular Dystrophy, alpha-dystroglycan related
RS1413641177 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS141365537 ITGA7 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1413656527 WRN Health Risk Likely pathogenic Werner syndrome, Chronic lymphocytic leukemia/small lymphocytic lymphoma
RS141366047 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS1413662099 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS141366600 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141366910 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141367100 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS141368249 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS141368413 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS141368418 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS141368651 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141368652 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1413693039 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS141369732 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS141369871 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS1413706911 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS141371119 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS141371306 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS141371552 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS141371868 TNMD Health Risk Conflicting classifications of pathogenicity —
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