Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776932
rs587776932
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C0027651
Disease: Neoplasms
Neoplasms 		G 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		T 0.730 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		G 0.730 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		A 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		A 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		C 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913273
rs121913273
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913273
rs121913273
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		A 0.710 GeneticVariation CLINVAR

dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs867262025
rs867262025
PIK3CA
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs867262025
rs867262025
PIK3CA
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs867262025
rs867262025
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs867262025
rs867262025
PIK3CA
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs867262025
rs867262025
PIK3CA
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs867262025
rs867262025
PIK3CA
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016