Source: CLINVAR ×
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: 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: rs140342925
rs140342925
MUTYH
T 0.800 CausalMutation CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593

2016
dbSNP: rs34126013
rs34126013
MUTYH
A 0.800 GeneticVariation CLINVAR Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. 27194394

2016
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: rs140342925
rs140342925
MUTYH
T 0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs140342925
rs140342925
MUTYH
T 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs34126013
rs34126013
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 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: rs529008617
rs529008617
MUTYH
A 0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs587782228
rs587782228
MUTYH
A 0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs587782228
rs587782228
MUTYH
A 0.800 CausalMutation CLINVAR Genomic variations integrated database for MUTYH-associated adenomatous polyposis. 25368107

2015
dbSNP: rs587782228
rs587782228
MUTYH
A 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs587782228
rs587782228
MUTYH
A 0.800 GeneticVariation CLINVAR Genomic variations integrated database for MUTYH-associated adenomatous polyposis. 25368107

2015
dbSNP: rs587782228
rs587782228
MUTYH
A 0.800 CausalMutation CLINVAR Patterns and functional implications of rare germline variants across 12 cancer types. 26689913

2015
dbSNP: rs730881833
rs730881833
MUTYH
T 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs730881833
rs730881833
MUTYH
T 0.800 GeneticVariation CLINVAR Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases. 25892863

2015
dbSNP: rs747993448
rs747993448
MUTYH
A 0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs747993448
rs747993448
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
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: rs140342925
rs140342925
MUTYH
T 0.800 GeneticVariation CLINVAR Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene. 24569162

2014
dbSNP: rs140342925
rs140342925
MUTYH
T 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: rs140342925
rs140342925
MUTYH
T 0.800 CausalMutation CLINVAR Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene. 24569162

2014