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
RS1799986 LRP1 Health Risk Conflicting classifications of pathogenicity Keratosis pilaris, LRP1-related disorder
RS1799986394 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1799986489 PRPH2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS1799986608 PRPH2 Health Risk Pathogenic Retinal dystrophy, Vitelliform macular dystrophy 3
RS1799988458 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Patterned dystrophy of the retinal pigment epithelium
RS1799991762 GATA4 Health Risk Pathogenic Atrioventricular septal defect 4, Atrioventricular septal defect 4
RS1799998 CYP11B2 Health Risk association Aldosterone to renin ratio, increased
RS1799999 PPP1R3A Health Risk Conflicting classifications of pathogenicity Insulin resistance, susceptibility to
RS1800011 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipidemia, familial combined
RS1800012 COL1A1 Health Risk association Bone mineral density variation quantitative trait locus, Bone mineral density variation quantitative trait locus
RS1800013 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS1800028 FUT2 Health Risk Conflicting classifications of pathogenicity VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1, Familial Otitis Media
RS1800033 TH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive DOPA responsive dystonia
RS1800053 AR Health Risk Conflicting classifications of pathogenicity Partial androgen insensitivity syndrome, Castleman-Kojima disease
RS1800055 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1800059 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1800061 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1800062 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1800064 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1800068 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS1800069 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS1800073 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS1800074 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1800076 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS1800077 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800079 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800082 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1800084 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1800086 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800087042 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS1800088 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1800089 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1800091 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS1800092 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1800095 CFTR Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Cystic fibrosis
RS1800097 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800098 CFTR Health Risk Conflicting classifications of pathogenicity Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
RS1800100 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Chronic sinusitis
RS1800103 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS1800104 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS1800104267 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1800108 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1800108496 PRPH2 Health Risk Pathogenic/Likely pathogenic Stargardt disease, PRPH2-related disorder
RS1800108516 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1800108549 PRPH2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1800109 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800109348 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1800110 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Infertility disorder
RS1800110234 PRPH2 Health Risk Likely pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS1800110629 PRPH2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1800110757 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, PRPH2-related disorder
RS1800110798 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, PRPH2-related disorder
RS1800110989 PRPH2 Health Risk Pathogenic/Likely pathogenic Patterned dystrophy of the retinal pigment epithelium, Retinitis pigmentosa
RS1800111 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Pancreatitis
RS1800111025 PRPH2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1800111486 PRPH2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1800111659 PRPH2 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy, PRPH2-related disorder
RS1800112 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800113276 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1800113364 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, Retinal dystrophy
RS1800113541 PRPH2 Health Risk Pathogenic Cone dystrophy, Cone dystrophy
RS1800114 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800114066 PRPH2 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1800114220 PRPH2 Health Risk Likely pathogenic Adult-onset foveomacular vitelliform dystrophy, Adult-onset foveomacular vitelliform dystrophy
RS1800115217 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1800115494 PRPH2 Health Risk Pathogenic/Likely pathogenic PRPH2-related disorder, Retinitis pigmentosa
RS1800115811 PRPH2 Health Risk Pathogenic PRPH2-related disorder, Patterned dystrophy of the retinal pigment epithelium
RS1800116 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800116126 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, PRPH2-related disorder
RS1800116472 PRPH2 Health Risk Pathogenic/Likely pathogenic Patterned macular dystrophy 1, PRPH2-related disorder
RS1800116963 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1800117107 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1800117660 PRPH2 Health Risk Pathogenic/Likely pathogenic PRPH2-related disorder, Patterned macular dystrophy 1
RS1800118 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800118044 PRPH2 Health Risk Pathogenic/Likely pathogenic Patterned dystrophy of the retinal pigment epithelium, PRPH2-related disorder
RS1800118385 PRPH2 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS1800118432 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1800118693 PRPH2 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, PRPH2-related disorder
RS1800120 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800121 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800123 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800131 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1800135 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS1800152 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1800171 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome
RS1800202 TPI1 Health Risk Conflicting classifications of pathogenicity Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS1800211 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Infantile cortical hyperostosis
RS1800214 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Ehlers-Danlos syndrome
RS1800243948 SLC25A46 Health Risk Pathogenic Neuropathy, hereditary motor and sensory
RS1800266 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1800311 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1800312 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1800324 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1800325384 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Cardiovascular phenotype
RS1800328 OTC Health Risk Pathogenic —
RS1800331 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1800334076 EYA4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS1800346 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1800361 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group A
RS1800365 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
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