Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886003
rs104886003
PIK3CA
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
0.800 GeneticVariation UNIPROT

dbSNP: rs121913281
rs121913281
PIK3CA
T 0.800 CausalMutation CLINVAR

dbSNP: rs397514565
rs397514565
PIK3CA
A 0.800 CausalMutation CLINVAR

dbSNP: rs587776932
rs587776932
PIK3CA
A 0.800 GeneticVariation CLINVAR

dbSNP: rs587776932
rs587776932
PIK3CA
0.800 GeneticVariation UNIPROT

dbSNP: rs863225460
rs863225460
PIK3CA
A 0.800 CausalMutation CLINVAR

dbSNP: rs1057519925
rs1057519925
PIK3CA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519929
rs1057519929
PIK3CA
0.700 GeneticVariation UNIPROT

dbSNP: rs121913277
rs121913277
PIK3CA
0.700 GeneticVariation UNIPROT

dbSNP: rs121913283
rs121913283
PIK3CA
0.700 GeneticVariation UNIPROT

dbSNP: rs121913287
rs121913287
PIK3CA
0.700 GeneticVariation UNIPROT

dbSNP: rs121913288
rs121913288
PIK3CA
0.700 GeneticVariation UNIPROT

dbSNP: rs1242945375
rs1242945375
PIK3CA
0.700 GeneticVariation UNIPROT

dbSNP: rs587776933
rs587776933
PIK3CA
T 0.700 CausalMutation CLINVAR

dbSNP: rs867262025
rs867262025
PIK3CA
0.700 GeneticVariation UNIPROT

dbSNP: rs104886003
rs104886003
PIK3CA
0.800 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs397514565
rs397514565
PIK3CA
0.800 GeneticVariation UNIPROT 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 CausalMutation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs863225460
rs863225460
PIK3CA
0.800 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs1064793732
rs1064793732
PIK3CA
0.700 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs397514605
rs397514605
AKT3
C 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: rs397517202
rs397517202
PIK3CA
0.700 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs587776934
rs587776934
PIK3R2
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: rs397514605
rs397514605
AKT3
C 0.700 CausalMutation CLINVAR AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. 23745724

2014