Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1224959447
rs1224959447
0.010 GeneticVariation BEFREE Nine such MLH1 variants have been identified in South American colorectal cancer (CRC) patients (p.Tyr97Asp, p.His112Gln, p.Pro141Ala, p.Arg265Pro, p.Asn338Ser, p.Ile501del, p.Arg575Lys, p.Lys618del, p.Leu676Pro), and evidence of pathogenicity or neutrality was not available for the majority of these variants. 29520894

2018

dbSNP: rs63750242
rs63750242
0.010 GeneticVariation BEFREE Nine such MLH1 variants have been identified in South American colorectal cancer (CRC) patients (p.Tyr97Asp, p.His112Gln, p.Pro141Ala, p.Arg265Pro, p.Asn338Ser, p.Ile501del, p.Arg575Lys, p.Lys618del, p.Leu676Pro), and evidence of pathogenicity or neutrality was not available for the majority of these variants. 29520894

2018

dbSNP: rs63750977
rs63750977
0.010 GeneticVariation BEFREE Nine such MLH1 variants have been identified in South American colorectal cancer (CRC) patients (p.Tyr97Asp, p.His112Gln, p.Pro141Ala, p.Arg265Pro, p.Asn338Ser, p.Ile501del, p.Arg575Lys, p.Lys618del, p.Leu676Pro), and evidence of pathogenicity or neutrality was not available for the majority of these variants. 29520894

2018

dbSNP: rs63751467
rs63751467
0.010 GeneticVariation BEFREE Nine such MLH1 variants have been identified in South American colorectal cancer (CRC) patients (p.Tyr97Asp, p.His112Gln, p.Pro141Ala, p.Arg265Pro, p.Asn338Ser, p.Ile501del, p.Arg575Lys, p.Lys618del, p.Leu676Pro), and evidence of pathogenicity or neutrality was not available for the majority of these variants. 29520894

2018

dbSNP: rs876659167
rs876659167
0.010 GeneticVariation BEFREE The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is especially interesting because its concomitant defect with another variant could finally explain its recurrent occurrence in CRC patients. 22581703

2012

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: rs765480781
rs765480781
0.010 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: rs63750447
rs63750447
0.020 GeneticVariation BEFREE The overall results suggested that the mutation in rs63750447 predicted a higher CRC risk (AB vs. BB: OR 2.283, 95 % CI 1.612-3.232, P = 0.000; AA+AB vs. BB: OR 2.291, 95 % CI 1.618-3.244, P = 0.000), while rs1800734 and rs1799977 were not associated with CRC risks. 25986311

2015

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

2015

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: 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: rs63750447
rs63750447
0.020 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

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: 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: 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 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 MLH1 I219V polymorphism was associated with colorectal cancer susceptibility (P=0.01). 24595079

2013

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: 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

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 The diversity of the Mediterranean diet and the heterogeneity of acquired epigenetic alterations in colorectal cancer (CRC) led us to examine the possible association between dietary factors and promoter hypermethylation in genes implicated in the pathogenesis of these neoplasms (p16(INK4a), p14(ARF), hMLH1) and the interaction with methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism. 17465256

2007

dbSNP: rs56250509
rs56250509
0.050 GeneticVariation BEFREE When MTHFR C677T genotype frequencies in MSS CRC cases were compared to controls, individuals with homozygous variant genotype were at 19% reduced risk of cancer compared to wild type (OR = 0.81; 95% CI: 0.65-1.02). 17350979

2007