Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503115
rs1060503115
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C4523846
Disease:
MSI-high
0.010 GeneticVariation BEFREE We defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome. 25602793 2015