Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894425
rs104894425
EIF2B2
0.800 GeneticVariation UNIPROT Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course. 22729508

2013
dbSNP: rs104894426
rs104894426
EIF2B2
0.800 GeneticVariation UNIPROT Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course. 22729508

2013
dbSNP: rs397514648
rs397514648
EIF2B2
0.800 GeneticVariation UNIPROT Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course. 22729508

2013
dbSNP: rs104894425
rs104894425
EIF2B2
0.800 GeneticVariation UNIPROT Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. 22285377

2012
dbSNP: rs104894426
rs104894426
EIF2B2
0.800 GeneticVariation UNIPROT Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. 22285377

2012
dbSNP: rs397514648
rs397514648
EIF2B2
0.800 GeneticVariation UNIPROT Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. 22285377

2012
dbSNP: rs104894425
rs104894425
EIF2B2
0.800 GeneticVariation UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434

2011
dbSNP: rs104894426
rs104894426
EIF2B2
0.800 GeneticVariation UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434

2011
dbSNP: rs28937596
rs28937596
EIF2B5
0.800 GeneticVariation UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434

2011
dbSNP: rs28939717
rs28939717
EIF2B5 ; LOC105374249
0.800 GeneticVariation UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434

2011
dbSNP: rs28939717
rs28939717
EIF2B5 ; LOC105374249
G 0.800 CausalMutation CLINVAR Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. 21560189

2011
dbSNP: rs397514646
rs397514646
EIF2B5
0.800 GeneticVariation UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434

2011
dbSNP: rs397514647
rs397514647
EIF2B3
0.800 GeneticVariation UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434

2011
dbSNP: rs397514648
rs397514648
EIF2B2
0.800 GeneticVariation UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434

2011
dbSNP: rs28939717
rs28939717
EIF2B5 ; LOC105374249
G 0.800 CausalMutation CLINVAR Genotype-phenotype correlation in vanishing white matter disease. 20975056

2010
dbSNP: rs28937596
rs28937596
EIF2B5
0.800 GeneticVariation UNIPROT Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808

2009
dbSNP: rs28939717
rs28939717
EIF2B5 ; LOC105374249
0.800 GeneticVariation UNIPROT Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808

2009
dbSNP: rs397514646
rs397514646
EIF2B5
0.800 GeneticVariation UNIPROT Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808

2009
dbSNP: rs397514647
rs397514647
EIF2B3
0.800 GeneticVariation UNIPROT Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808

2009
dbSNP: rs104894425
rs104894425
EIF2B2
0.800 GeneticVariation UNIPROT Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005
dbSNP: rs104894425
rs104894425
EIF2B2
G 0.800 CausalMutation CLINVAR Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005
dbSNP: rs104894426
rs104894426
EIF2B2
0.800 GeneticVariation UNIPROT Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005
dbSNP: rs28937596
rs28937596
EIF2B5
0.800 GeneticVariation UNIPROT Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005
dbSNP: rs28939717
rs28939717
EIF2B5 ; LOC105374249
0.800 GeneticVariation UNIPROT Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005
dbSNP: rs397514646
rs397514646
EIF2B5
0.800 GeneticVariation UNIPROT Identification of ten novel mutations in patients with eIF2B-related disorders. 15776425

2005