Gene: PIK3CA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519942
rs1057519942
PIK3CA
A 0.700 CausalMutation CLINVAR PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. 27631024

2016
dbSNP: rs1064793732
rs1064793732
PIK3CA
A 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 PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. 27631024

2016
dbSNP: rs1064793732
rs1064793732
PIK3CA
A 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 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs121913283
rs121913283
PIK3CA
T 0.700 CausalMutation CLINVAR Regulation of lipid binding underlies the activation mechanism of class IA PI3-kinases. 22120714

2012
dbSNP: rs121913283
rs121913283
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: rs121913283
rs121913283
PIK3CA
A 0.700 CausalMutation CLINVAR Regulation of lipid binding underlies the activation mechanism of class IA PI3-kinases. 22120714

2012
dbSNP: rs1064793732
rs1064793732
PIK3CA
A 0.700 CausalMutation CLINVAR PIK3CA cooperates with other phosphatidylinositol 3'-kinase pathway mutations to effect oncogenic transformation. 18829572

2008
dbSNP: rs121913281
rs121913281
PIK3CA
T 0.700 CausalMutation CLINVAR Rare cancer-specific mutations in PIK3CA show gain of function. 17376864

2007
dbSNP: rs121913283
rs121913283
PIK3CA
A 0.700 CausalMutation CLINVAR Rare cancer-specific mutations in PIK3CA show gain of function. 17376864

2007
dbSNP: rs121913283
rs121913283
PIK3CA
A 0.700 CausalMutation CLINVAR Functional analysis of PIK3CA gene mutations in human colorectal cancer. 15930273

2005
dbSNP: rs121913283
rs121913283
PIK3CA
T 0.700 CausalMutation CLINVAR Functional analysis of PIK3CA gene mutations in human colorectal cancer. 15930273

2005
dbSNP: rs121913279
rs121913279
PIK3CA
T 0.700 CausalMutation CLINVAR

dbSNP: rs397514565
rs397514565
PIK3CA
A 0.700 CausalMutation CLINVAR