Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 23361220

2014

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399

2013

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Personalized genomic disease risk of volunteers. 24082139

2013

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Colorectal cancer in a monoallelic MYH mutation carrier. 23625202

2013

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome. 23805267

2013

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. 22744763

2012

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879

2012

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR MutYH mutation carriers have increased breast cancer risk. 21952991

2012

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR MUTYH gene expression and alternative splicing in controls and polyposis patients. 22473953

2012

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells. 22926731

2012

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review. 22158503

2012

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659

2010

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. 21178863

2010

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527

2010

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Biallelic MYH germline mutations as cause of Muir-Torre syndrome. 19998059

2010

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187

2010

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. 21063410

2010

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. 19836313

2009

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194

2008

dbSNP: rs36053993
rs36053993
T 0.700 CausalMutation CLINVAR Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965

2002