Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.820 GeneticVariation BEFREE We developed a sensitive, simple and rapid approach to detect the low-abundance PIK3CA (H1047R) mutation in real CRC specimens, providing an effective tool for guiding cancer targeted therapy. 27405731

2016

dbSNP: rs121913279
rs121913279
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.820 GeneticVariation BEFREE Collectively, our data suggest that PF-04691502 exhibits potent anticancer activity in colorectal cancer by targeting both PIK3CA (H1047R) mutant CSCs and their derivatives. 23826249

2013

dbSNP: rs121913279
rs121913279
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.820 GeneticVariation UNIPROT The prevalence of PIK3CA mutations in gastric and colon cancer. 15994075

2005

dbSNP: rs121913279
rs121913279
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.820 GeneticVariation UNIPROT Functional analysis of PIK3CA gene mutations in human colorectal cancer. 15930273

2005

dbSNP: rs121913279
rs121913279
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
G 0.820 CausalMutation CLINVAR

dbSNP: rs104886003
rs104886003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Functional analysis of PIK3CA gene mutations in human colorectal cancer. 15930273

2005

dbSNP: rs104886003
rs104886003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT The prevalence of PIK3CA mutations in gastric and colon cancer. 15994075

2005

dbSNP: rs104886003
rs104886003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
A 0.800 CausalMutation CLINVAR

dbSNP: rs1057519925
rs1057519925
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT

dbSNP: rs1057519930
rs1057519930
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT

dbSNP: rs121913272
rs121913272
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT Functional analysis of PIK3CA gene mutations in human colorectal cancer. 15930273

2005

dbSNP: rs121913272
rs121913272
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT The prevalence of PIK3CA mutations in gastric and colon cancer. 15994075

2005

dbSNP: rs121913273
rs121913273
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT

dbSNP: rs121913274
rs121913274
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913283
rs121913283
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT

dbSNP: rs121913286
rs121913286
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
A 0.700 CausalMutation CLINVAR

dbSNP: rs772110575
rs772110575
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT Functional analysis of PIK3CA gene mutations in human colorectal cancer. 15930273

2005

dbSNP: rs772110575
rs772110575
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT The prevalence of PIK3CA mutations in gastric and colon cancer. 15994075

2005

dbSNP: rs141178472
rs141178472
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE These findings provide evidence that a miR-520a binding site polymorphism rs141178472 in the PIK3CA 3'-UTR may play a role in the etiology of CRC. 25834816

2015

dbSNP: rs2699887
rs2699887
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE However, no association was detected between rs2699887 in the PIK3CA gene and CRC risk. 26722535

2015