Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
0.730 GeneticVariation BEFREE Moreover, by analyzing primary HCC tissue samples we were able to demonstrate that a hotspot mutation (H1047R) of PI3KCA, the gene encoding the catalytic subunit of PI3K, was associated with increased in vitro kinase activity of all AKT isoforms in comparison to healthy liver tissue of the patient. 23167739

2012

dbSNP: rs121913279
rs121913279
0.730 GeneticVariation BEFREE Using PIK3CA(H1047R)/c-Met, PIK3CA(E545K)/c-Met, and sgPten/c-Met murine HCC models, we also demonstrated that deletion of Sgk3 moderately delays PIK3CA(E545K)/c-Met driven HCC, while not affecting PIK3CA(H1047R)/c-Met or sgPten/c-Met HCC formation in mice. 30975125

2019

dbSNP: rs121913279
rs121913279
0.730 GeneticVariation BEFREE PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%). 18181165

2008

dbSNP: rs104886003
rs104886003
0.720 GeneticVariation BEFREE PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%). 18181165

2008

dbSNP: rs104886003
rs104886003
0.720 GeneticVariation BEFREE Similarly, in human HCC cell lines, silencing of SGK3 reduced PIK3CA(E545K</span>) -but not PIK3CA(H1047R)- induced accelerated tumor cell proliferation. 30975125

2019

dbSNP: rs121913273
rs121913273
0.710 GeneticVariation BEFREE PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%). 18181165

2008

dbSNP: rs17849071
rs17849071
0.010 GeneticVariation BEFREE The PIK3CA rs17849071 and rs17849079 polymorphisms may increase the risk of HCC either independently or synergistically. 26823876

2015

dbSNP: rs17849079
rs17849079
0.010 GeneticVariation BEFREE The PIK3CA rs17849071 and rs17849079 polymorphisms may increase the risk of HCC either independently or synergistically. 26823876

2015

dbSNP: rs121913274
rs121913274
C 0.800 CausalMutation CLINVAR

dbSNP: rs121913274
rs121913274
C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913274
rs121913274
G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913279
rs121913279
G 0.730 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913279
rs121913279
T 0.730 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913279
rs121913279
G 0.730 CausalMutation CLINVAR

dbSNP: rs104886003
rs104886003
C 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs104886003
rs104886003
A 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913273
rs121913273
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913273
rs121913273
C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519925
rs1057519925
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519925
rs1057519925
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519926
rs1057519926
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519927
rs1057519927
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519927
rs1057519927
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519927
rs1057519927
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519932
rs1057519932
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016