Gene: MUTYH ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557451154
rs1557451154
MUTYH
TGGGCTGTTGG 0.700 CausalMutation CLINVAR

dbSNP: rs768130289
rs768130289
MUTYH
TG 0.700 CausalMutation CLINVAR Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair. 11092888

2001
dbSNP: rs768130289
rs768130289
MUTYH
TG 0.700 CausalMutation 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: rs768130289
rs768130289
MUTYH
TG 0.700 CausalMutation CLINVAR Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. 16941501

2006
dbSNP: rs768130289
rs768130289
MUTYH
TG 0.700 CausalMutation CLINVAR hMYH cell cycle-dependent expression, subcellular localization and association with replication foci: evidence suggesting replication-coupled repair of adenine:8-oxoguanine mispairs. 11433026

2001
dbSNP: rs768130289
rs768130289
MUTYH
TG 0.700 CausalMutation CLINVAR Replication-associated repair of adenine:8-oxoguanine mispairs by MYH. 11864576

2002
dbSNP: rs587780078
rs587780078
MUTYH
TCC 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs587780078
rs587780078
MUTYH
TCC 0.700 GeneticVariation CLINVAR Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. 16941501

2006
dbSNP: rs587780078
rs587780078
MUTYH
TCC 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs587780078
rs587780078
MUTYH
TCC 0.700 CausalMutation CLINVAR High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. 22744763

2012
dbSNP: rs587780078
rs587780078
MUTYH
TCC 0.700 GeneticVariation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997

2005
dbSNP: rs587780078
rs587780078
MUTYH
TCC 0.700 CausalMutation CLINVAR Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399

2013
dbSNP: rs587780078
rs587780078
MUTYH
TCC 0.700 CausalMutation CLINVAR High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. 15188161

2004
dbSNP: rs587780078
rs587780078
MUTYH
TCC 0.700 CausalMutation CLINVAR Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000

2004
dbSNP: rs587780078
rs587780078
MUTYH
TCC 0.700 CausalMutation CLINVAR Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? 19531215

2009
dbSNP: rs140342925
rs140342925
MUTYH
T 0.800 GeneticVariation CLINVAR Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399

2013
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 CausalMutation CLINVAR Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis. 17081686

2007
dbSNP: rs140342925
rs140342925
MUTYH
T 0.800 GeneticVariation CLINVAR Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. 16287072

2006
dbSNP: rs140342925
rs140342925
MUTYH
T 0.800 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs140342925
rs140342925
MUTYH
T 0.800 GeneticVariation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194

2008
dbSNP: rs140342925
rs140342925
MUTYH
T 0.800 CausalMutation CLINVAR Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147

2005
dbSNP: rs140342925
rs140342925
MUTYH
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: rs140342925
rs140342925
MUTYH
T 0.800 GeneticVariation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs140342925
rs140342925
MUTYH
T 0.800 CausalMutation CLINVAR Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399

2013