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rs113994037

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs113994037(A;A)
Make rs113994037(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position27366758
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994037
ebirs113994037
HLIrs113994037
Exacrs113994037
Varsomers113994037
Maprs113994037
PheGenIrs113994037
hapmaprs113994037
1000 genomesrs113994037
hgdprs113994037
ensemblrs113994037
gopubmedrs113994037
geneviewrs113994037
scholarrs113994037
googlers113994037
pharmgkbrs113994037
gwascentralrs113994037
openSNPrs113994037
23andMers113994037
23andMe allrs113994037
SNP Nexus

SNPshotrs113994037
SNPdbers113994037
MSV3drs113994037
GWAS Ctlgrs113994037
Max Magnitude0
OMIM606687
Desc
Variant0003
Relatedalso

[PMID 11835386] Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.


[PMID 14572143] Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.

ClinVar
Risk rs113994037(A;A)
Alt rs113994037(A;A)
Reference rs113994037(G;G)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B4
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000002.11:g.27589625C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004335.2,