Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886003
rs104886003
0.800 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016

dbSNP: rs397514565
rs397514565
0.800 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016

dbSNP: rs863225460
rs863225460
0.800 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016

dbSNP: rs104886003
rs104886003
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
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: rs863225460
rs863225460
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: rs121913281
rs121913281
0.800 GeneticVariation UNIPROT

dbSNP: rs587776932
rs587776932
0.800 GeneticVariation UNIPROT

dbSNP: rs1064793732
rs1064793732
0.700 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016

dbSNP: rs397517202
rs397517202
0.700 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016

dbSNP: rs1064793732
rs1064793732
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: rs397517202
rs397517202
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: rs1057519929
rs1057519929
0.700 GeneticVariation UNIPROT

dbSNP: rs121913277
rs121913277
0.700 GeneticVariation UNIPROT

dbSNP: rs121913283
rs121913283
0.700 GeneticVariation UNIPROT

dbSNP: rs121913287
rs121913287
0.700 GeneticVariation UNIPROT

dbSNP: rs121913288
rs121913288
0.700 GeneticVariation UNIPROT

dbSNP: rs1242945375
rs1242945375
0.700 GeneticVariation UNIPROT

dbSNP: rs867262025
rs867262025
0.700 GeneticVariation UNIPROT