rs863225460, PIK3CA

N. diseases: 5
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 0.882 0.200 3 179199160 missense variant T/A snv 0.800 1.000 2 2012 2016
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.882 0.200 3 179199160 missense variant T/A snv 0.700 0
Learning difficulties
CUI: C0424939
Disease: Learning difficulties
6 0.882 0.200 3 179199160 missense variant T/A snv 0.700 0
Macrocephaly
CUI: C0221355
Disease: Macrocephaly
10 0.882 0.200 3 179199160 missense variant T/A snv 0.010 1.000 1 2016 2016
Macroencephaly
CUI: C2720434
Disease: Macroencephaly
3 0.882 0.200 3 179199160 missense variant T/A snv 0.010 1.000 1 2016 2016