Gene: MLH1 ×
Source: CURATED ×
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 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 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 Genetic analysis of familial colorectal cancer in Israeli Arabs. 12655564

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
dbSNP: rs267607894
rs267607894
MLH1
0.700 GeneticVariation UNIPROT The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. 15184898

2004
dbSNP: rs63750217
rs63750217
MLH1
0.700 GeneticVariation UNIPROT The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. 15184898

2004