Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28930073
rs28930073
0.720 GeneticVariation BEFREE The MLH1 D132H risk variant has significantly lower allele frequency in American compared with Israeli cancer patients and, alone, is unlikely to explain significant amounts of American sporadic colorectal cancer or uterine cancer susceptibility. 15991064

2005

dbSNP: rs28930073
rs28930073
0.720 GeneticVariation BEFREE Association studies identified a new MLH1 variant (415G-->C, resulting in the amino acid substitution D132H) in approximately 1.3% of Israeli individuals with CRC self-described as Jewish, Christian and Muslim. 15184898

2004

dbSNP: rs1800734
rs1800734
0.090 GeneticVariation BEFREE Here we use the presence of a colorectal cancer (CRC) risk variant (rs1800734) within the MLH1 promoter to investigate the poorly understood mechanisms of MLH1 promoter methylation and loss of expression. 31530880

2019

dbSNP: rs1800734
rs1800734
0.090 GeneticVariation BEFREE We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region are associated with MLH1 promoter island methylation, loss of MLH1 protein expression, and microsatellite instability (MSI) in colorectal cancer (CRC) patients. 23240038

2012

dbSNP: rs1800734
rs1800734
0.090 GeneticVariation BEFREE When candidate SNPs were examined, our data did not support most of the previously reported associations with CRC susceptibility, an exception being an effect of the MLH1 promoter SNP -93G>A (rs1800734). 22294770

2012

dbSNP: rs1800734
rs1800734
0.090 GeneticVariation BEFREE To explore these distinct patterns, MLH1 CpG island and shore methylation was assessed in CRC cell lines stratified by rs1800734 genotype. 28304185

2017

dbSNP: rs1800734
rs1800734
0.090 GeneticVariation BEFREE We evaluated the significance of rs1800734 on CRC risk by genotyping 10 409 CRC cases and 6965 controls. 21565826

2011

dbSNP: rs1800734
rs1800734
0.090 GeneticVariation BEFREE A single nucleotide polymorphism (SNP) in the CpG island of <i>MLH1</i> (<i>MLH1</i>-93G>A or rs1800734) is associated with CpG island hypermethylation and decreased <i>MLH1</i> expression in CRC tumours. 28293327

2017

dbSNP: rs1800734
rs1800734
0.090 GeneticVariation BEFREE Additionally, there was no persuasive evidence showing that SNPs of rs1800734 and rs1799977 were related to CRC susceptibility. 25986311

2015

dbSNP: rs1800734
rs1800734
0.090 GeneticVariation BEFREE The observed association of rs1800734 with MSI-H CRC occurs through its effect on the MLH1 promoter methylation, MLH1 IHC deficiency, or both. 20967208

2010

dbSNP: rs1800734
rs1800734
0.090 GeneticVariation BEFREE The MLH1 -93G>A (rs1800734) polymorphism was detected by PCR-RFLP in 49 cases of colorectal cancer. 25115745

2014

dbSNP: rs876658657
rs876658657
0.080 GeneticVariation BEFREE Two SNPs of hMLH1 (hMLH1 -93G>A and IVS3-1403A>T) were significantly associated with OS of CRC in dominant model and recessive model, respectively. 24793746

2014

dbSNP: rs876658657
rs876658657
0.080 GeneticVariation BEFREE These findings suggest that the MLH1 -93G>A polymorphism defines a low penetrance risk allele for CRC. 18712731

2008

dbSNP: rs876658657
rs876658657
0.080 GeneticVariation BEFREE The -93G > A (rs1800734) polymorphism within the core promoter region of the MutL homolog 1 (MLH1) gene has recently been proposed as a low penetrance variant for colorectal cancer (CRC). 21565826

2011

dbSNP: rs876658657
rs876658657
0.080 GeneticVariation BEFREE The MLH1 -93 G>A promoter polymorphism has been reported to be associated with an increased risk of microsatellite unstable colorectal cancer. 18615680

2008

dbSNP: rs876658657
rs876658657
0.080 GeneticVariation BEFREE Our results suggest an influence of MLH1 promoter polymorphism -93G>A in modulating susceptibility risk in Malaysian CRC patients, especially those with sporadic disease. 23621208

2013

dbSNP: rs876658657
rs876658657
0.080 GeneticVariation BEFREE The MLH1 -93G>A (rs1800734) polymorphism was detected by PCR-RFLP in 49 cases of colorectal cancer. 25115745

2014

dbSNP: rs876658657
rs876658657
0.080 GeneticVariation BEFREE Our results suggest that the MLH1 -93G>A polymorphism may contribute to individual susceptibility to CRC and act as a risk factor for MSI-CRC. 23226285

2012

dbSNP: rs876658657
rs876658657
0.080 GeneticVariation BEFREE Among case patients from Ontario, an association between the MLH1 -93G>A polymorphism and a strong family history of colorectal cancer (for Amsterdam criteria I and II, P = .004 and P = .02, respectively) was observed. 17374836

2007

dbSNP: rs1799977
rs1799977
0.050 GeneticVariation BEFREE In relation to the more frequent 655A-->G polymorphism, association analyses revealed that G carriers (AG or GG genotype) displayed a higher risk of CRC compared with AA homozygous [odds ratio (OR) AG=2.55, 95% confidence interval (CI)=1.48-4.39; P=0.01 and OR GG=2.48, 95% CI=1.20-5.11; P=0.01, respectively]. 19665066

2009

dbSNP: rs1799977
rs1799977
0.050 GeneticVariation BEFREE The MLH1 I219V polymorphism was associated with colorectal cancer susceptibility (P=0.01). 24595079

2013

dbSNP: rs1799977
rs1799977
0.050 GeneticVariation BEFREE Additionally, there was no persuasive evidence showing that SNPs of rs1800734 and rs1799977 were related to CRC susceptibility. 25986311

2015

dbSNP: rs1799977
rs1799977
0.050 GeneticVariation BEFREE The G allele of rs1799977 polymorphism was proved to connect with susceptibility of colorectal cancer (allele model: OR = 1.21, P = 0.023; dominate model: OR = 1.32, P <0.0001) and prostate cancer (dominate model: OR = 1.36, P <0.0001). 29190978

2017

dbSNP: rs1799977
rs1799977
0.050 GeneticVariation BEFREE Four single nucleotide polymorphisms in 3 mismatch repair genes (MSH3 R940Q, MSH3 T1036A, MSH6 G39E and MLH1 I219V) were genotyped in 237 colorectal cancer cases and a subcohort of 2,189 participants. 17205513

2007

dbSNP: rs56250509
rs56250509
0.050 GeneticVariation BEFREE Methylenetetrahydrofolate reductase C677T genotype affects promoter methylation of tumor-specific genes in sporadic colorectal cancer through an interaction with folate/vitamin B12 status. 18595133

2008