Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374950566
rs374950566
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: rs374950566
rs374950566
MUTYH
A 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs374950566
rs374950566
MUTYH
A 0.800 GeneticVariation CLINVAR Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1. 26377631

2015
dbSNP: rs374950566
rs374950566
MUTYH
0.800 GeneticVariation UNIPROT Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs374950566
rs374950566
MUTYH
0.800 GeneticVariation UNIPROT Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187

2010
dbSNP: rs374950566
rs374950566
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: rs374950566
rs374950566
MUTYH
0.800 GeneticVariation UNIPROT MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527

2010
dbSNP: rs374950566
rs374950566
MUTYH
A 0.800 GeneticVariation CLINVAR Leiden Open Variation Database of the MUTYH gene. 20725929

2010
dbSNP: rs374950566
rs374950566
MUTYH
A 0.800 GeneticVariation CLINVAR MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. 20618354

2010
dbSNP: rs374950566
rs374950566
MUTYH
A 0.800 GeneticVariation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009
dbSNP: rs374950566
rs374950566
MUTYH
A 0.800 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs374950566
rs374950566
MUTYH
A 0.800 GeneticVariation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009
dbSNP: rs374950566
rs374950566
MUTYH
A 0.800 GeneticVariation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs374950566
rs374950566
MUTYH
A 0.800 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194

2008
dbSNP: rs374950566
rs374950566
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: rs374950566
rs374950566
MUTYH
A 0.800 GeneticVariation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194

2008
dbSNP: rs374950566
rs374950566
MUTYH
A 0.800 GeneticVariation CLINVAR Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients. 17219385

2007
dbSNP: rs374950566
rs374950566
MUTYH
A 0.800 CausalMutation CLINVAR Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients. 17219385

2007
dbSNP: rs374950566
rs374950566
MUTYH
0.800 GeneticVariation UNIPROT Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 18091433

2007
dbSNP: rs374950566
rs374950566
MUTYH
A 0.800 CausalMutation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584

2006
dbSNP: rs374950566
rs374950566
MUTYH
0.800 GeneticVariation UNIPROT Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. 16941501

2006
dbSNP: rs374950566
rs374950566
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: rs374950566
rs374950566
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: rs374950566
rs374950566
MUTYH
A 0.800 GeneticVariation CLINVAR Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. 16941501

2006
dbSNP: rs374950566
rs374950566
MUTYH
A 0.800 CausalMutation CLINVAR Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. 16941501

2006