Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 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: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review. 22158503

2012
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187

2010
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 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: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. 21178863

2010
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527

2010
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR Biallelic MYH germline mutations as cause of Muir-Torre syndrome. 19998059

2010
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. 21063410

2010
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 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
MUTYH
T 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194

2008
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965

2002
dbSNP: rs104886003
rs104886003
PIK3CA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519044
rs1057519044
FGFR2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908382
rs121908382
MUTYH
A 0.700 CausalMutation CLINVAR

dbSNP: rs121908383
rs121908383
MUTYH
C 0.700 CausalMutation CLINVAR

dbSNP: rs121909144
rs121909144
KLF6
T 0.700 CausalMutation CLINVAR

dbSNP: rs121909775
rs121909775
CASP10
T 0.700 CausalMutation CLINVAR

dbSNP: rs121909776
rs121909776
CASP10
C 0.700 CausalMutation CLINVAR

dbSNP: rs121912469
rs121912469
IRF1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121913279
rs121913279
PIK3CA
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913478
rs121913478
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121913530
rs121913530
KRAS
T 0.700 CausalMutation CLINVAR