Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776932
rs587776932
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: rs104886003
rs104886003
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
T 0.800 CausalMutation CLINVAR

dbSNP: rs397514565
rs397514565
A 0.800 CausalMutation CLINVAR

dbSNP: rs587776932
rs587776932
A 0.800 GeneticVariation CLINVAR

dbSNP: rs863225460
rs863225460
A 0.800 CausalMutation CLINVAR

dbSNP: rs1057519925
rs1057519925
A 0.700 CausalMutation CLINVAR

dbSNP: rs587776933
rs587776933
T 0.700 CausalMutation CLINVAR