Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749939
rs63749939
MLH1
0.700 GeneticVariation UNIPROT

dbSNP: rs63749959
rs63749959
MLH1
TA 0.700 CausalMutation CLINVAR

dbSNP: rs63751267
rs63751267
MLH1
0.700 GeneticVariation UNIPROT

dbSNP: rs63751283
rs63751283
MLH1
0.700 GeneticVariation UNIPROT

dbSNP: rs63751612
rs63751612
MLH1
0.700 GeneticVariation UNIPROT

dbSNP: rs63751310
rs63751310
MLH1
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: rs63751194
rs63751194
MLH1
T 0.700 CausalMutation CLINVAR A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535

2010
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
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
MLH1 ; EPM2AIP1
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: rs1799977
rs1799977
MLH1
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: rs1418586322
rs1418586322
MLH1
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: rs56250509
rs56250509
MLH1
0.050 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: rs876658657
rs876658657
MLH1
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: rs28930073
rs28930073
MLH1
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: rs28930073
rs28930073
MLH1
0.720 GeneticVariation UNIPROT 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: rs765480781
rs765480781
MLH1
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: rs28930073
rs28930073
MLH1
0.720 GeneticVariation UNIPROT Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691

2008
dbSNP: rs267607894
rs267607894
MLH1
0.700 GeneticVariation UNIPROT Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691

2008
dbSNP: rs63750217
rs63750217
MLH1
0.700 GeneticVariation UNIPROT Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691

2008
dbSNP: rs63750268
rs63750268
MLH1
0.700 GeneticVariation UNIPROT Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691

2008
dbSNP: rs63750303
rs63750303
MLH1
0.700 GeneticVariation UNIPROT Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691

2008
dbSNP: rs63750437
rs63750437
MLH1
0.700 GeneticVariation UNIPROT Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691

2008
dbSNP: rs63750449
rs63750449
MLH1
0.700 GeneticVariation UNIPROT Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691

2008
dbSNP: rs63750498
rs63750498
MLH1
0.700 GeneticVariation UNIPROT Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691

2008
dbSNP: rs63750650
rs63750650
MLH1
0.700 GeneticVariation UNIPROT Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691

2008