rs1064793732, PIK3CA

N. diseases: 3
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.
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.882 0.320 3 179204536 missense variant G/A snv 0.700 1.000 3 2008 2016
Megalencephaly cutis marmorata telangiectatica congenita
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
18 0.882 0.320 3 179204536 missense variant G/A snv 0.700 1.000 2 2012 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.882 0.320 3 179204536 missense variant G/A snv 0.700 0