Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608172
rs267608172
PMS2
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs267608172
rs267608172
PMS2
T 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: rs267608172
rs267608172
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: rs267608172
rs267608172
PMS2
T 0.700 CausalMutation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264

2010