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 MUTYH gene expression and alternative splicing in controls and polyposis patients. 22473953

2012
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 Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome. 23805267

2013
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR MutYH mutation carriers have increased breast cancer risk. 21952991

2012
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 High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. 22744763

2012
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 Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399

2013
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR Personalized genomic disease risk of volunteers. 24082139

2013
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 Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194

2008
dbSNP: rs36053993
rs36053993
MUTYH
T 0.700 CausalMutation CLINVAR Colorectal cancer in a monoallelic MYH mutation carrier. 23625202

2013
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 A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. 21063410

2010
dbSNP: rs372267274
rs372267274
MUTYH
G 0.700 CausalMutation CLINVAR

dbSNP: rs587780088
rs587780088
MUTYH
A 0.700 CausalMutation CLINVAR

dbSNP: rs587781628
rs587781628
MUTYH
C 0.700 CausalMutation CLINVAR

dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
0.020 GeneticVariation BEFREE rs895819 in microRNA-27a increase stomach neoplasms risk in China: A meta-analysis. 31054359

2019
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
0.020 GeneticVariation BEFREE Thus, pooling all related studies did not provide evidence on the association of rs895819 with increased risk of stomach neoplasms. 31669639

2020
dbSNP: rs121913529
rs121913529
KRAS
T 0.710 CausalMutation CLINVAR

dbSNP: rs121913529
rs121913529
KRAS
0.710 GeneticVariation BEFREE One case had a KRAS G12V (c.35G>T) mutation in both the primary gastric tumor and a post-imatinib recurrence. 25427437

2015
dbSNP: rs121913530
rs121913530
KRAS
T 0.700 CausalMutation CLINVAR

dbSNP: rs121909144
rs121909144
KLF6
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912469
rs121912469
IRF1
A 0.700 CausalMutation CLINVAR