Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786202840
rs786202840
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. 24375884

2014

dbSNP: rs786202840
rs786202840
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Inhibition of activated fibroblast growth factor receptor 2 in endometrial cancer cells induces cell death despite PTEN abrogation. 18757403

2008