Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782187
rs587782187
PTEN ; KLLN
G 0.700 CausalMutation CLINVAR Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 21956414

2011
dbSNP: rs587782187
rs587782187
PTEN ; KLLN
G 0.700 CausalMutation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011
dbSNP: rs587782187
rs587782187
PTEN ; KLLN
G 0.700 CausalMutation CLINVAR Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. 20600018

2010
dbSNP: rs587782187
rs587782187
PTEN ; KLLN
G 0.700 CausalMutation CLINVAR Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma. 17898811

2007
dbSNP: rs587782187
rs587782187
PTEN ; KLLN
G 0.700 CausalMutation CLINVAR Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. 16773562

2006
dbSNP: rs587782187
rs587782187
PTEN ; KLLN
G 0.700 CausalMutation CLINVAR Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. 14566704

2003
dbSNP: rs587782187
rs587782187
PTEN ; KLLN
A 0.700 CausalMutation CLINVAR