Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913291
rs121913291
PTEN
CA 0.700 CausalMutation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs121913291
rs121913291
PTEN
CA 0.700 CausalMutation CLINVAR Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome. 20962022

2011
dbSNP: rs121913291
rs121913291
PTEN
CA 0.700 CausalMutation CLINVAR The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 17526801

2007