Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799977
rs1799977
0.030 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: rs35502531
rs35502531
0.030 GeneticVariation BEFREE The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals. 24743384

2014

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

2014

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

2013

dbSNP: rs35502531
rs35502531
0.030 GeneticVariation BEFREE We also reviewed the literature concerning MLH1 K618A in families with colorectal cancer. 22426235

2012

dbSNP: rs35502531
rs35502531
0.030 GeneticVariation BEFREE We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). 21247423

2011

dbSNP: rs56250509
rs56250509
0.030 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

dbSNP: rs876658657
rs876658657
0.030 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: rs1799977
rs1799977
0.030 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
0.030 GeneticVariation BEFREE MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer. 17350979

2007

dbSNP: rs876658657
rs876658657
0.030 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: rs56250509
rs56250509
0.030 GeneticVariation BEFREE Although the mechanism responsible for the link between the C677T polymorphism and microsatellite instability was not apparent, this finding may provide a clue towards a better understanding of the pathogenesis of microsatellite instability in human colorectal cancer. 16819711

2006

dbSNP: rs1800734
rs1800734
0.020 GeneticVariation BEFREE Modulation of transcription factor binding and epigenetic regulation of the MLH1 CpG island and shore by polymorphism rs1800734 in colorectal cancer. 28304185

2017

dbSNP: rs756045117
rs756045117
0.020 GeneticVariation BEFREE DNMT3b -149C/T promoter variants and methylation of colorectal cancer-associated genes. 25769449

2015

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

2014

dbSNP: rs1418586322
rs1418586322
0.020 GeneticVariation BEFREE We previously described a founder mutation, MSH2*1906G >C (A636P) that causes HNPCC in 8/1345 (0.59%) of Ashkenazim with colorectal cancer. 17414604

2007

dbSNP: rs756045117
rs756045117
0.020 GeneticVariation BEFREE In conclusion, we have found a strong association between the germline polymorphism (c.-56C>T) of the MGMT promoter and promoter methylation/silencing of MGMT in colorectal cancer. 17621591

2007

dbSNP: rs28930073
rs28930073
0.020 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: rs1418586322
rs1418586322
0.020 GeneticVariation BEFREE Although rare in the general population, the A636P mutation is detected in up to 7% of Ashkenazi Jewish patients with early age-of-onset colorectal cancer, and may account for up to one third of HNPCC in the Ashkenazi Jewish population. 15516845

2004

dbSNP: rs28930073
rs28930073
0.020 GeneticVariation BEFREE The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. 15184898

2004

dbSNP: rs63751310
rs63751310
0.010 GeneticVariation BEFREE R659X mutation in the MLH1 gene in hereditary non-polyposis colorectal cancer(HNPCC) in an Indian extended family. 20167975

2010

dbSNP: rs1466012753
rs1466012753
0.010 GeneticVariation BEFREE In conclusion, we have found a strong association between the germline polymorphism (c.-56C>T) of the MGMT promoter and promoter methylation/silencing of MGMT in colorectal cancer. 17621591

2007

dbSNP: rs63750447
rs63750447
0.010 GeneticVariation BEFREE In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1 in Chinese patients with colorectal cancer we identified a novel missense mutation (V384D) in exon 12 of the hMLH1 gene in 4 out of 26 individuals. 9526167

1998