rs397517202, PIK3CA

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Megalencephaly cutis marmorata telangiectatica congenita
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
18 0.851 0.320 3 179234230 missense variant A/G snv 0.700 1.000 2 2012 2016
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.851 0.320 3 179234230 missense variant A/G snv 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.851 0.320 3 179234230 missense variant A/G snv 0.010 1.000 1 2007 2007
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.851 0.320 3 179234230 missense variant A/G snv 0.010 1.000 1 2007 2007