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
RS139932041 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS139932140 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS1399333767 RARS2 Health Risk Pathogenic —
RS139934030 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS139935751 RAD21 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS139935771 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS139935808 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139935847 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS139936445 PRPH2 Health Risk Conflicting classifications of pathogenicity Patterned macular dystrophy 1, Adult-onset foveomacular vitelliform dystrophy
RS139936447 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS139936564 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1399366648 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139937177 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS1399387605 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS139938808 C12orf57 Health Risk Conflicting classifications of pathogenicity Temtamy syndrome, C12orf57-related disorder
RS139939038 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS1399392600 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS1399395271 IRF2BP2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS1399398274 HSD3B2 Health Risk Likely pathogenic —
RS139939985 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS139940282 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Inborn genetic diseases
RS1399404493 RPIA Health Risk Likely pathogenic Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
RS1399412484 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS139941321 SLC4A11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139942484 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139942632 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1399429058 POLR3A Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS139944375 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS139944383 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS139944387 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS139944523 HSPG2 Health Risk Likely pathogenic Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS139944598 BFSP2 Health Risk Conflicting classifications of pathogenicity Cataract 12 multiple types, Cataract 12 multiple types
RS139945204 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1399453028 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1399453825 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS139945733 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1399457483 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS139945826 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS139946168 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS1399465960 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS1399471736 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1399473815 FREM2 Health Risk Conflicting classifications of pathogenicity —
RS139947920 NNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NNT-related disorder
RS1399483116 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS139949668 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS139949788 ERCC6;PGBD3 Health Risk Conflicting classifications of pathogenicity —
RS139951127 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS1399516081 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1399517463 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS1399520060 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1399525051 LRIG2 Health Risk Likely pathogenic —
RS139952718 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS139952725 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1399528026 PIGP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139953187 RDX Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS139953295 MRPS34 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MRPS34-related disorder
RS139953639 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS139953862 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS139954107 KRT2 Health Risk Conflicting classifications of pathogenicity Ichthyosis bullosa of Siemens, Inborn genetic diseases
RS139954703 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139954720 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS139954767 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Hearing impairment
RS139955975 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Ehlers-Danlos syndrome
RS139956283 STRC Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16
RS139956424 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS139956524 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS139956849 CDC45 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139957730 ITPR3 Health Risk Conflicting classifications of pathogenicity —
RS139958275 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS1399587250 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS139959427 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Inborn genetic diseases
RS1399594906 CAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139959852 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1399602547 ALOX12B Health Risk Pathogenic —
RS139960441 LARS1 Health Risk Conflicting classifications of pathogenicity —
RS1399604502 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS139960719 HYAL2 Health Risk Pathogenic HYAL2 deficiency, HYAL2 deficiency
RS1399608211 MYO5B Health Risk Pathogenic —
RS139960834 RB1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Hereditary cancer-predisposing syndrome
RS1399608577 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group D
RS139960913 ESR1 Health Risk Conflicting classifications of pathogenicity ESR1-related disorder, ESR1-related disorder
RS1399609437 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1399612102 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS139964066 ABCC8 Health Risk Pathogenic Familial hyperinsulinism, Hyperinsulinemic hypoglycemia
RS139964603 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS139964770 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS139964785 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS1399649784 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS1399651154 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS139965373 AKAP9 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, Long QT syndrome
RS1399654830 GLI3 Health Risk Pathogenic/Likely pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS139966058 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS1399662154 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS139967004 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS139967538 AGK Health Risk Pathogenic Cataract 38, Sengers syndrome
RS1399676175 IQCB1 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 5, Nephronophthisis
RS1399676515 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, Stickler syndrome
RS139967668 FCHO1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 76, Immunodeficiency 76
RS139968089 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1399681066 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
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