Disease: Colonic Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780053
rs587780053
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
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