Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121913274
rs121913274
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		G 0.710 CausalMutation CLINVAR

dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016