Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750451
rs63750451
PMS2
A 0.700 CausalMutation CLINVAR Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. 27589204

2016
dbSNP: rs63750451
rs63750451
PMS2
A 0.700 CausalMutation CLINVAR Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2016
dbSNP: rs63750451
rs63750451
PMS2
A 0.700 CausalMutation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232

2016
dbSNP: rs63750451
rs63750451
PMS2
A 0.700 CausalMutation CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458

2015
dbSNP: rs63750451
rs63750451
PMS2
A 0.700 CausalMutation CLINVAR Pediatric duodenal cancer and biallelic mismatch repair gene mutations. 19283792

2009
dbSNP: rs63750451
rs63750451
PMS2
A 0.700 CausalMutation CLINVAR Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). 16472587

2006