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: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		0.700 1.000 1 2016 2016
dbSNP: rs864309676
rs864309676
STX7
0.851 0.120 6 132472372 missense variant T/G snv
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		0.700 1.000 1 2016 2016
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		0.700 0