rs63751194, MLH1

N. diseases: 5
Disease: Colorectal Carcinoma ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 CausalMutation CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 CausalMutation CLINVAR A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535 2010
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 CausalMutation CLINVAR The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation. 18205192 2008