Source: CURATED

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: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		0.700 1.000 1 2016 2016
dbSNP: rs1064796765
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		0.700 0
dbSNP: rs1565706229
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		0.700 0