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: rs863225264
rs863225264
MTOR
0.827 0.240 1 11130747 missense variant C/T snv
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		0.020 1.000 2 2015 2016
dbSNP: rs765798990
rs765798990
PIK3CD
0.925 0.120 1 9717609 missense variant G/A;T snv 4.0E-06
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: C2720434
Disease: Macroencephaly
Macroencephaly 		0.010 1.000 1 2016 2016