Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553665467
rs1553665467
MLH1
TCTTATGACATCTAAT 0.700 GeneticVariation CLINVAR

dbSNP: rs1553662800
rs1553662800
MLH1
TCCAGATAGTCCAGA 0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs1553662800
rs1553662800
MLH1
TCCAGATAGTCCAGA 0.700 CausalMutation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014
dbSNP: rs63750677
rs63750677
MLH1
TC 0.700 CausalMutation CLINVAR Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer. 9833759

1998
dbSNP: rs63750677
rs63750677
MLH1
TC 0.700 CausalMutation CLINVAR High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. 19459153

2009
dbSNP: rs1553651130
rs1553651130
MLH1
TAT 0.700 CausalMutation CLINVAR

dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773

1996
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR Mismatch repair gene mutations in Chinese HNPCC patients. 18931482

2008
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. 24802709

2014
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. 19459153

2009
dbSNP: rs267607903
rs267607903
MLH1
TAAAC 0.700 CausalMutation CLINVAR Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome. 8646682

1996
dbSNP: rs1060500707
rs1060500707
MLH1
TA 0.700 CausalMutation CLINVAR

dbSNP: rs587778989
rs587778989
MLH1
TA 0.700 CausalMutation CLINVAR N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha. 12799449

2003
dbSNP: rs587778989
rs587778989
MLH1
TA 0.700 CausalMutation CLINVAR Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. 16338176

2006
dbSNP: rs587778989
rs587778989
MLH1
TA 0.700 CausalMutation CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529

2010
dbSNP: rs63749959
rs63749959
MLH1
TA 0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733

2005
dbSNP: rs63749959
rs63749959
MLH1
TA 0.700 CausalMutation CLINVAR Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer. 17054581

2006
dbSNP: rs63749959
rs63749959
MLH1
TA 0.700 CausalMutation CLINVAR Mutation spectrum in South American Lynch syndrome families. 24344984

2013
dbSNP: rs63749959
rs63749959
MLH1
TA 0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs63749959
rs63749959
MLH1
TA 0.700 CausalMutation CLINVAR Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575

2003
dbSNP: rs63750028
rs63750028
MLH1
TA 0.700 CausalMutation CLINVAR Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575

2003
dbSNP: rs869312767
rs869312767
MLH1 ; EPM2AIP1
TA 0.700 CausalMutation CLINVAR

dbSNP: rs878853787
rs878853787
MLH1
TA 0.700 CausalMutation CLINVAR A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. 24802709

2014