Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913293
rs121913293
PTEN
T 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017
dbSNP: rs121913293
rs121913293
PTEN
T 0.700 CausalMutation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs121913293
rs121913293
PTEN
T 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs121913293
rs121913293
PTEN
T 0.700 CausalMutation CLINVAR PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 22628360

2012
dbSNP: rs121913293
rs121913293
PTEN
T 0.700 CausalMutation 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: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs370795352
rs370795352
PTEN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs863224909
rs863224909
PTEN
G 0.700 CausalMutation CLINVAR