Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909221
rs121909221
PTEN
A 0.700 GeneticVariation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

2011
dbSNP: rs121909221
rs121909221
PTEN
A 0.700 GeneticVariation CLINVAR In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN. 17942903

2007
dbSNP: rs121909221
rs121909221
PTEN
A 0.700 GeneticVariation CLINVAR Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800

2007
dbSNP: rs121909221
rs121909221
PTEN
A 0.700 GeneticVariation CLINVAR Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302

2000
dbSNP: rs121909221
rs121909221
PTEN
A 0.700 GeneticVariation CLINVAR Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266

1997
dbSNP: rs121909221
rs121909221
PTEN
A 0.700 GeneticVariation CLINVAR P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. 9256433

1997
dbSNP: rs121909221
rs121909221
PTEN
A 0.700 CausalMutation CLINVAR