Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1482654951
rs1482654951
MLH1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553644277
rs1553644277
MLH1
C 0.700 GeneticVariation 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: rs1553644277
rs1553644277
MLH1
C 0.700 GeneticVariation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs1553647894
rs1553647894
MLH1
A 0.700 GeneticVariation CLINVAR UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 10612827

2000
dbSNP: rs1553647894
rs1553647894
MLH1
A 0.700 GeneticVariation 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: rs1553647894
rs1553647894
MLH1
A 0.700 GeneticVariation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs1553647894
rs1553647894
MLH1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553648201
rs1553648201
MLH1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553665467
rs1553665467
MLH1
TCTTATGACATCTAAT 0.700 GeneticVariation CLINVAR

dbSNP: rs193922370
rs193922370
MLH1
C 0.700 GeneticVariation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs193922370
rs193922370
MLH1
C 0.700 GeneticVariation 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: rs267607709
rs267607709
MLH1 ; EPM2AIP1
T 0.700 GeneticVariation 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: rs267607709
rs267607709
MLH1 ; EPM2AIP1
T 0.700 GeneticVariation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs267607718
rs267607718
MLH1
A 0.700 GeneticVariation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs267607718
rs267607718
MLH1
A 0.700 GeneticVariation 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: rs267607720
rs267607720
MLH1
G 0.700 GeneticVariation CLINVAR Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer. 15991306

2005
dbSNP: rs267607720
rs267607720
MLH1
G 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs267607720
rs267607720
MLH1
G 0.700 GeneticVariation CLINVAR Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. 19267393

2009
dbSNP: rs267607725
rs267607725
MLH1
A 0.700 GeneticVariation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012
dbSNP: rs267607744
rs267607744
MLH1
A 0.700 GeneticVariation 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: rs267607744
rs267607744
MLH1
A 0.700 GeneticVariation CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088

2015
dbSNP: rs267607744
rs267607744
MLH1
A 0.700 GeneticVariation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs267607745
rs267607745
MLH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267607749
rs267607749
MLH1
G 0.700 GeneticVariation CLINVAR Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 17312306

2007
dbSNP: rs267607749
rs267607749
MLH1
G 0.700 GeneticVariation CLINVAR UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. 23729658

2013