Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786201044
rs786201044
PTEN
C 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs786201044
rs786201044
PTEN
C 0.700 CausalMutation CLINVAR Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome. 23886400

2013
dbSNP: rs786201044
rs786201044
PTEN
C 0.700 CausalMutation CLINVAR Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 23475934

2013
dbSNP: rs786201044
rs786201044
PTEN
C 0.700 CausalMutation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347

2011
dbSNP: rs786201044
rs786201044
PTEN
C 0.700 CausalMutation CLINVAR Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. 20600018

2010
dbSNP: rs786201044
rs786201044
PTEN
C 0.700 CausalMutation CLINVAR A novel PTEN mutation in a Japanese patient with Cowden disease. 10848731

2000