Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909238
rs121909238
PTEN
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909239
rs121909239
PTEN
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909240
rs121909240
PTEN
C 0.800 CausalMutation CLINVAR

dbSNP: rs397514559
rs397514559
PTEN
A 0.800 CausalMutation CLINVAR

dbSNP: rs397514560
rs397514560
PTEN
T 0.800 CausalMutation CLINVAR

dbSNP: rs1057524874
rs1057524874
PTEN ; KLLN
GGA 0.700 CausalMutation CLINVAR

dbSNP: rs1114167667
rs1114167667
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs121909224
rs121909224
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs1224040268
rs1224040268
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1564568303
rs1564568303
PTEN
AAG 0.700 GeneticVariation CLINVAR

dbSNP: rs370795352
rs370795352
PTEN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs398123323
rs398123323
PTEN
TA 0.700 CausalMutation CLINVAR

dbSNP: rs797045904
rs797045904
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs863224909
rs863224909
PTEN
G 0.700 GeneticVariation CLINVAR

dbSNP: rs863224909
rs863224909
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519368
rs1057519368
PTEN
C 0.700 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757

2017
dbSNP: rs121909227
rs121909227
PTEN
T 0.700 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757

2017
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273

2014
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840

2013
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 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 23475934

2013
dbSNP: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 10749983

2000
dbSNP: rs121909231
rs121909231
PTEN
T 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