Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781716
rs587781716
PMS2
TC 0.700 CausalMutation CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049

2015
dbSNP: rs587781716
rs587781716
PMS2
T 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: rs587781716
rs587781716
PMS2
TC 0.700 CausalMutation CLINVAR Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations. 21261604

2011
dbSNP: rs587781716
rs587781716
PMS2
T 0.700 CausalMutation CLINVAR Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. 21376568

2011
dbSNP: rs587781716
rs587781716
PMS2
TC 0.700 CausalMutation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264

2010