Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937596
rs28937596
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397514646
rs397514646
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		C 0.800 CausalMutation CLINVAR
dbSNP: rs113994049
rs113994049
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1847967
Disease:
OVARIOLEUKODYSTROPHY 		A 0.710 CausalMutation CLINVAR
dbSNP: rs1064794256
rs1064794256
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		C 0.700 CausalMutation CLINVAR
dbSNP: rs113994043
rs113994043
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		G 0.700 CausalMutation CLINVAR
dbSNP: rs113994044
rs113994044
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994045
rs113994045
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994046
rs113994046
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994048
rs113994048
Entrez Id: 8893;105374249
Gene Symbol: EIF2B5;LOC105374249
EIF2B5;LOC105374249
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994050
rs113994050
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994053
rs113994053
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994055
rs113994055
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1847967
Disease:
OVARIOLEUKODYSTROPHY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994055
rs113994055
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994057
rs113994057
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994058
rs113994058
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994060
rs113994060
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994062
rs113994062
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994063
rs113994063
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1836830
Disease:
Developmental regression 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994063
rs113994063
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C0948163
Disease:
Leukoaraiosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994063
rs113994063
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994063
rs113994063
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C0023520
Disease:
Leukodystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994063
rs113994063
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C0013421
Disease:
Dystonia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994064
rs113994064
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		A 0.700 CausalMutation CLINVAR
dbSNP: rs113994067
rs113994067
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT
dbSNP: rs113994068
rs113994068
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
CUI: C1858991
Disease:
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation UNIPROT