MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Malignant tumor of colon ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876658657
rs876658657
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease:
Malignant tumor of colon 		0.040 GeneticVariation BEFREE Our aim was to determine the effect of the single nucleotide polymorphisms (SNP) -93G>A of the MLH1 gene (rs1800734) and Gly322Asp of the MSH2 gene (rs4987188) on the risk of colon cancer (CC) and identify any relationship with clinical factors. 29181059 2017
dbSNP: rs876658657
rs876658657
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease:
Malignant tumor of colon 		0.040 GeneticVariation BEFREE When stratified by tumor location, hMLH1 -93G>A and IVS3-1403A>T were associated with colon cancer survival (for hMLH1 -93G>A, AA+AG vs. GG, HRadj = 0.34, 95 % CI 0.17-0.68, p < 0.01; for hMLH1 IVS3-1403A>T, AT vs. AA, HR(adj) = 2.20, 95 % CI 1.11-4.36, p = 0.02), rather than rectal cancer. 24793746 2014
dbSNP: rs876658657
rs876658657
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease:
Malignant tumor of colon 		0.040 GeneticVariation BEFREE The MSH6 Gly39Glu and MLH1 -93G>A polymorphisms were associated with risk of overall colon and MSI-positive colon cancers, respectively. 18523027 2009
dbSNP: rs876658657
rs876658657
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease:
Malignant tumor of colon 		0.040 GeneticVariation BEFREE The MLH1 -93 G>A promoter polymorphism and genetic and epigenetic alterations in colon cancer. 18615680 2008