Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682

2017
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 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: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. 24444654

2014
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 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: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR The first mutations in the MYH gene reported in Moroccan colon cancer patients. 22266422

2012
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. 21171015

2011
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187

2010
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527

2010
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 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: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. 21178863

2010
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. 21063410

2010
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 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: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 19793053

2009
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194

2008
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. 17489848

2007
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584

2006
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. 16492921

2006
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997

2005
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 12606733

2003
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 CausalMutation CLINVAR Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965

2002
dbSNP: rs34612342
rs34612342
MUTYH
C 0.800 GeneticVariation CLINVAR

dbSNP: rs34612342
rs34612342
MUTYH
0.800 GeneticVariation UNIPROT