Gene: MLH1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553657971
rs1553657971
MLH1
CAT 0.700 CausalMutation CLINVAR

dbSNP: rs1553658009
rs1553658009
MLH1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553658246
rs1553658246
MLH1
A 0.700 GeneticVariation CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049

2015
dbSNP: rs1553659334
rs1553659334
MLH1
T 0.700 CausalMutation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394

2013
dbSNP: rs1553659500
rs1553659500
MLH1
G 0.700 CausalMutation CLINVAR Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome. 19224586

2009
dbSNP: rs1553659500
rs1553659500
MLH1
G 0.700 CausalMutation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394

2013
dbSNP: rs1553662753
rs1553662753
MLH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553663159
rs1553663159
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553663834
rs1553663834
MLH1
C 0.700 CausalMutation CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088

2015
dbSNP: rs1553663834
rs1553663834
MLH1
C 0.700 CausalMutation CLINVAR Lynch syndrome in a predominantly Afrocentric population: a clinicopathological and genetic study. 22854115

2012
dbSNP: rs1553664119
rs1553664119
MLH1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553664506
rs1553664506
MLH1
G 0.700 GeneticVariation CLINVAR PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. 25851949

2015
dbSNP: rs1553664617
rs1553664617
MLH1
AG 0.700 CausalMutation CLINVAR

dbSNP: rs1553664702
rs1553664702
MLH1
T 0.700 CausalMutation CLINVAR MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer. 20924129

2010
dbSNP: rs1553664702
rs1553664702
MLH1
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1553665977
rs1553665977
MLH1
AC 0.700 GeneticVariation CLINVAR

dbSNP: rs1559521039
rs1559521039
MLH1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1559574795
rs1559574795
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1559578422
rs1559578422
MLH1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922370
rs193922370
MLH1
C 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: rs193922370
rs193922370
MLH1
C 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs267607710
rs267607710
MLH1 ; EPM2AIP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267607710
rs267607710
MLH1 ; EPM2AIP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs267607712
rs267607712
MLH1
G 0.700 CausalMutation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015
dbSNP: rs267607712
rs267607712
MLH1
G 0.700 CausalMutation CLINVAR High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry. 25117503

2014