Source: ALL

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: 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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 2 2005 2005
dbSNP: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 2 2014 2016
dbSNP: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 2 2014 2016
dbSNP: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		0.700 0
dbSNP: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs121913272
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017