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: rs863225460
rs863225460
PIK3CA
0.882 0.200 3 179199160 missense variant T/A snv
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		0.800 1.000 2 2012 2016
dbSNP: rs863225460
rs863225460
PIK3CA
0.882 0.200 3 179199160 missense variant T/A snv
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		0.700 0
dbSNP: rs863225460
rs863225460
PIK3CA
0.882 0.200 3 179199160 missense variant T/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs863225460
rs863225460
PIK3CA
0.882 0.200 3 179199160 missense variant T/A snv
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		0.010 1.000 1 2016 2016
dbSNP: rs863225460
rs863225460
PIK3CA
0.882 0.200 3 179199160 missense variant T/A snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 1.000 1 2016 2016