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: rs397517202
rs397517202
PIK3CA
0.851 0.320 3 179234230 missense variant A/G snv
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		0.700 1.000 2 2012 2016
dbSNP: rs397517202
rs397517202
PIK3CA
0.851 0.320 3 179234230 missense variant A/G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs397517202
rs397517202
PIK3CA
0.851 0.320 3 179234230 missense variant A/G snv
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2007 2007
dbSNP: rs397517202
rs397517202
PIK3CA
0.851 0.320 3 179234230 missense variant A/G snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2007 2007