Source: CLINVAR

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: rs113994063
rs113994063
EIF2B5
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.700 0
dbSNP: rs113994063
rs113994063
EIF2B5
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs113994063
rs113994063
EIF2B5
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		0.700 0
dbSNP: rs113994063
rs113994063
EIF2B5
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0