Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776932
rs587776932
PIK3CA
A 0.800 CausalMutation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs587776932
rs587776932
PIK3CA
A 0.800 GeneticVariation CLINVAR

dbSNP: rs587776932
rs587776932
PIK3CA
0.800 GeneticVariation UNIPROT