Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514647
rs397514647
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
0.800 GeneticVariation UNIPROT Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808

2009

dbSNP: rs397514647
rs397514647
0.800 GeneticVariation UNIPROT Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. 11835386

2002