Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769237459
rs769237459
MUTYH
A 0.800 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240

2017
dbSNP: rs769237459
rs769237459
MUTYH
A 0.800 GeneticVariation CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419

2016
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 26694661

2016
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs769237459
rs769237459
MUTYH
A 0.800 GeneticVariation CLINVAR Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. 26511139

2015
dbSNP: rs769237459
rs769237459
MUTYH
A 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187

2010
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659

2010
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527

2010
dbSNP: rs769237459
rs769237459
MUTYH
A 0.800 GeneticVariation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009
dbSNP: rs769237459
rs769237459
MUTYH
A 0.800 GeneticVariation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. 18515411

2008
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 18091433

2007
dbSNP: rs769237459
rs769237459
MUTYH
A 0.800 GeneticVariation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584

2006
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584

2006
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. 16941501

2006
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. 16287072

2006
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147

2005
dbSNP: rs769237459
rs769237459
MUTYH
A 0.800 GeneticVariation CLINVAR Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147

2005
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000

2004
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 12606733

2003
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198

2003
dbSNP: rs769237459
rs769237459
MUTYH
0.800 GeneticVariation UNIPROT Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965

2002