Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608017
rs267608017
C 0.700 CausalMutation CLINVAR Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer. 31101557

2019

dbSNP: rs267608017
rs267608017
C 0.700 CausalMutation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387

2013

dbSNP: rs267608017
rs267608017
C 0.700 CausalMutation CLINVAR Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691

2008

dbSNP: rs267608017
rs267608017
C 0.700 CausalMutation CLINVAR Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. 16807412

2006

dbSNP: rs267608017
rs267608017
C 0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005

dbSNP: rs267608017
rs267608017
C 0.700 CausalMutation CLINVAR Aberrant RNA splicing in the hMSH2 gene: molecular identification of three aberrant RNA in Scottish patients with colorectal cancer in the West of Scotland. 11074494

2000