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: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		0.800 1.000 1 2018 2018
dbSNP: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		0.800 1.000 1 2012 2012
dbSNP: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 2 2005 2005