rs768824654, MSH2

N. diseases: 6
Disease: Colonic Neoplasms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colonic Neoplasms
CUI: C0009375
Disease: Colonic Neoplasms
0.010 GeneticVariation BEFREE In the colon tumor of the proband, MLH1 and PMS2 expression was completely lost as a consequence of a pathogenic somatic point mutation (MLH1 c.199G>A, p.Gly67Arg) that also abrogated local methylation by destroying a CpG site. 25742745 2015