Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913281
rs121913281
PIK3CA
T 0.700 CausalMutation CLINVAR PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. 27631024

2016
dbSNP: rs121913281
rs121913281
PIK3CA
T 0.700 CausalMutation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs121913281
rs121913281
PIK3CA
T 0.700 CausalMutation CLINVAR Rare cancer-specific mutations in PIK3CA show gain of function. 17376864

2007