Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200640585
rs200640585
PMS2
A 0.700 CausalMutation CLINVAR Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. 27589204

2016
dbSNP: rs200640585
rs200640585
PMS2
A 0.700 CausalMutation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668

2016
dbSNP: rs200640585
rs200640585
PMS2
A 0.700 CausalMutation CLINVAR Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency. 22918162

2013
dbSNP: rs200640585
rs200640585
PMS2
A 0.700 CausalMutation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753

2013
dbSNP: rs200640585
rs200640585
PMS2
A 0.700 CausalMutation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264

2010