Source: UNIPROT

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 		0.800 GeneticVariation UNIPROT PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678

2005
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.700 GeneticVariation UNIPROT Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288

2013
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.700 GeneticVariation UNIPROT Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550

2007