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rs113994027

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994027(C;T)
Make rs113994027(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position27368047
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994027
ebirs113994027
HLIrs113994027
Exacrs113994027
Varsomers113994027
Maprs113994027
PheGenIrs113994027
hapmaprs113994027
1000 genomesrs113994027
hgdprs113994027
ensemblrs113994027
gopubmedrs113994027
geneviewrs113994027
scholarrs113994027
googlers113994027
pharmgkbrs113994027
gwascentralrs113994027
openSNPrs113994027
23andMers113994027
23andMe allrs113994027
SNP Nexus

SNPshotrs113994027
SNPdbers113994027
MSV3drs113994027
GWAS Ctlgrs113994027
Max Magnitude0
OMIM606687
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113994027(T;T)
Alt rs113994027(T;T)
Reference rs113994027(C;C)
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.27590914G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004336.3,


[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.