Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs36053993
rs36053993
MUTYH
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
MUTYH
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
MUTYH
T 0.700 CausalMutation CLINVAR Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. 23561487

2013
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR Personalized genomic disease risk of volunteers. 24082139

2013
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR MutYH mutation carriers have increased breast cancer risk. 21952991

2012
dbSNP: rs36053993
rs36053993
MUTYH
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
MUTYH
T 0.700 CausalMutation CLINVAR MUTYH gene expression and alternative splicing in controls and polyposis patients. 22473953

2012
dbSNP: rs36053993
rs36053993
MUTYH
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
MUTYH
T 0.700 CausalMutation CLINVAR MUTYH gene variants and breast cancer in a Dutch case–control study. 22297469

2012
dbSNP: rs36053993
rs36053993
MUTYH
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
MUTYH
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
MUTYH
T 0.700 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 GeneticVariation CLINVAR