Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017
dbSNP: rs1085308041
rs1085308041
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761

2017
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis. 19968660

2010
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751

2009
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR Analysis of the PTEN gene mutation in polyposis syndromes and sporadic gastrointestinal tumors in Japanese patients. 11052475

2000
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 CausalMutation CLINVAR