rs587776932, PIK3CA

N. diseases: 2
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 0.925 0.280 3 179230077 missense variant G/A snv 0.800 1.000 1 2012 2012
Neurofibromatosis 2
CUI: C0027832
Disease: Neurofibromatosis 2
49 0.925 0.280 3 179230077 missense variant G/A snv 0.010 1.000 1 2018 2018