Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs28930073
rs28930073
MLH1
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
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: 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 Genetic analysis of familial colorectal cancer in Israeli Arabs. 12655564

2003
dbSNP: rs28930073
rs28930073
MLH1
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
MLH1
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
MLH1
0.720 GeneticVariation UNIPROT Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients. 10882759

2000
dbSNP: rs28930073
rs28930073
MLH1
0.720 GeneticVariation UNIPROT Missense mutations in hMLH1 associated with colorectal cancer. 10598809

1999
dbSNP: rs28930073
rs28930073
MLH1
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
MLH1
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
MLH1
0.720 GeneticVariation UNIPROT Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. 9032648

1997
dbSNP: rs28930073
rs28930073
MLH1
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
MLH1
T 0.700 CausalMutation CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075

2012
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: 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
dbSNP: rs63750718
rs63750718
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: rs63751194
rs63751194
MLH1
T 0.700 CausalMutation CLINVAR The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation. 18205192

2008