Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913274
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.800 1.000 1 2005 2016
dbSNP: rs121913274
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.700 1.000 1 2013 2013
dbSNP: rs121913274
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.700 1.000 1 2007 2007