Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994063
rs113994063
EIF2B5
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs113994063
rs113994063
EIF2B5
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR

dbSNP: rs113994063
rs113994063
EIF2B5
CUI: C0013421
Disease: Dystonia
Dystonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs113994063
rs113994063
EIF2B5
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		T 0.700 CausalMutation CLINVAR