Have questions? Visit https://www.reddit.com/r/SNPedia

rs113994035

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994035(C;T)
Make rs113994035(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position27366830
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994035
ebirs113994035
HLIrs113994035
Exacrs113994035
Varsomers113994035
Maprs113994035
PheGenIrs113994035
hapmaprs113994035
1000 genomesrs113994035
hgdprs113994035
ensemblrs113994035
gopubmedrs113994035
geneviewrs113994035
scholarrs113994035
googlers113994035
pharmgkbrs113994035
gwascentralrs113994035
openSNPrs113994035
23andMers113994035
23andMe allrs113994035
SNP Nexus

SNPshotrs113994035
SNPdbers113994035
MSV3drs113994035
GWAS Ctlgrs113994035
Max Magnitude0
OMIM606687
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113994035(T;T)
Alt rs113994035(T;T)
Reference rs113994035(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.27589697G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004334.3,


[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.