Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36053993
rs36053993
0.800 GeneticVariation UNIPROT Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965

2002

dbSNP: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965

2002

dbSNP: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 12606733

2003

dbSNP: rs36053993
rs36053993
0.800 GeneticVariation UNIPROT Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 12606733

2003

dbSNP: rs36053993
rs36053993
0.800 GeneticVariation UNIPROT Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198

2003

dbSNP: rs36053993
rs36053993
0.800 GeneticVariation UNIPROT Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000

2004

dbSNP: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients. 15635083

2005

dbSNP: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR Germline susceptibility to colorectal cancer due to base-excision repair gene defects. 15931596

2005

dbSNP: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair. 15987719

2005

dbSNP: rs36053993
rs36053993
0.800 GeneticVariation UNIPROT Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147

2005

dbSNP: rs36053993
rs36053993
0.800 GeneticVariation UNIPROT Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. 16287072

2006

dbSNP: rs36053993
rs36053993
T 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: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584

2006

dbSNP: rs36053993
rs36053993
0.800 GeneticVariation UNIPROT MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584

2006

dbSNP: rs36053993
rs36053993
0.800 GeneticVariation UNIPROT Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. 16941501

2006

dbSNP: rs36053993
rs36053993
T 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: rs36053993
rs36053993
0.800 GeneticVariation UNIPROT Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 18091433

2007

dbSNP: rs36053993
rs36053993
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: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194

2008

dbSNP: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009

dbSNP: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009

dbSNP: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009

dbSNP: rs36053993
rs36053993
T 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: rs36053993
rs36053993
T 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: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527

2010