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
RS2479574035 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479574073 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479579590 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479579754 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479579838 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479600524 ADAMTS19 Health Risk Pathogenic —
RS2479600850 ADAMTS19 Health Risk Pathogenic —
RS2479608059 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479608360 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS2479608436 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479608557 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479615961 TGFBI Health Risk Likely pathogenic Reis-Bucklers' corneal dystrophy, Reis-Bucklers' corneal dystrophy
RS2479615997 RAD50 Health Risk Pathogenic/Likely pathogenic Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome
RS2479616063 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479617307 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479617464 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479617671 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479617864 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479618543 TGFBI Health Risk Likely pathogenic —
RS2479621337 PRDM5 Health Risk Likely pathogenic —
RS2479623086 PRDM5 Health Risk Pathogenic —
RS2479628644 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2479631621 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479631668 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479631781 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479631818 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479631849 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479632082 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479634218 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS2479634716 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479636595 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2479636665 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2479636714 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS2479636783 RAD50 Health Risk Pathogenic —
RS2479636921 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS2479637278 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479637362 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479637475 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479640714 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479640870 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479641332 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479641491 LYRM7 Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8
RS2479641659 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479641785 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479643793 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479643878 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479643939 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479646862 CHD1 Health Risk Likely pathogenic Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
RS2479647819 CEP120 Health Risk Pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS2479648691 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479649815 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479650289 MEGF10 Health Risk Likely pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2479651705 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479651854 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479651900 RAD50 Health Risk Likely pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS2479651921 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS2479664803 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479665154 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS2479666185 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479666189 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479666473 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479666526 RAD50 Health Risk Likely pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS2479667684 PITX1 Health Risk Likely pathogenic —
RS2479668433 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479668485 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479668587 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479668807 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2479672475 PITX1 Health Risk Likely pathogenic Clubfoot, Clubfoot
RS2479684419 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479687611 MINAR2 Health Risk Pathogenic Hearing loss, autosomal recessive 120
RS2479690433 POU4F3 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS2479692447 POU4F3 Health Risk Pathogenic —
RS2479692745 POU4F3 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS2479692800 POU4F3 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS2479693124 POU4F3 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS2479693236 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2479693648 POU4F3 Health Risk Likely pathogenic —
RS2479693752 POU4F3 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS2479693967 POU4F3 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS2479695133 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2479695783 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2479696245 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2479696486 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2479702385 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2479708257 MINAR2 Health Risk Pathogenic Hearing loss, autosomal recessive 120
RS2479708318 MEGF10 Health Risk Pathogenic Congenital myopathy 10b, mild variant
RS2479716393 CHD1 Health Risk Likely pathogenic Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
RS2479717329 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479719966 CHD1 Health Risk Likely pathogenic Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
RS2479747890 CEP120 Health Risk Likely pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS2479766812 MEGF10 Health Risk Likely pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2479772621 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2479778910 MEGF10 Health Risk Pathogenic Congenital myopathy 10b, mild variant
RS2479786404 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479786545 FBN2 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2479788124 CEP120 Health Risk Pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS2479791649 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479791800 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479792118 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479797387 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
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