Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28930073
rs28930073
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: 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 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: 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: rs28930073
rs28930073
0.720 GeneticVariation UNIPROT Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases. 14504054

2003

dbSNP: rs28930073
rs28930073
0.720 GeneticVariation UNIPROT Genetic analysis of familial colorectal cancer in Israeli Arabs. 12655564

2003

dbSNP: rs28930073
rs28930073
0.720 GeneticVariation UNIPROT hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer. 12132870

2001

dbSNP: rs28930073
rs28930073
0.720 GeneticVariation UNIPROT Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients. 10882759

2000

dbSNP: rs28930073
rs28930073
0.720 GeneticVariation UNIPROT Missense mutations in hMLH1 associated with colorectal cancer. 10598809

1999

dbSNP: rs28930073
rs28930073
0.720 GeneticVariation UNIPROT DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer. 9611074

1998

dbSNP: rs28930073
rs28930073
0.720 GeneticVariation UNIPROT MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. 9087566

1997

dbSNP: rs28930073
rs28930073
0.720 GeneticVariation UNIPROT Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. 9032648

1997

dbSNP: rs28930073
rs28930073
0.720 GeneticVariation UNIPROT Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. 8872463

1996

dbSNP: rs63751194
rs63751194
T 0.700 CausalMutation CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075

2012

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

2010

dbSNP: rs267607894
rs267607894
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
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
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
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
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
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
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
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: rs63750718
rs63750718
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: rs63751194
rs63751194
T 0.700 CausalMutation CLINVAR The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation. 18205192

2008