Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750695
rs63750695
PMS2
C 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
dbSNP: rs63750695
rs63750695
PMS2
C 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: rs63750695
rs63750695
PMS2
C 0.700 CausalMutation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014
dbSNP: rs63750695
rs63750695
PMS2
C 0.700 CausalMutation CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473

2012
dbSNP: rs63750695
rs63750695
PMS2
C 0.700 CausalMutation CLINVAR ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. 22658618

2012
dbSNP: rs63750695
rs63750695
PMS2
C 0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008