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rs113994033

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994033(A;A)
Make rs113994033(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position27366880
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994033
ebirs113994033
HLIrs113994033
Exacrs113994033
Varsomers113994033
Maprs113994033
PheGenIrs113994033
hapmaprs113994033
1000 genomesrs113994033
hgdprs113994033
ensemblrs113994033
gopubmedrs113994033
geneviewrs113994033
scholarrs113994033
googlers113994033
pharmgkbrs113994033
gwascentralrs113994033
openSNPrs113994033
23andMers113994033
23andMe allrs113994033
SNP Nexus

SNPshotrs113994033
SNPdbers113994033
MSV3drs113994033
GWAS Ctlgrs113994033
Max Magnitude0
OMIM606687
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994033(A;A)
Alt rs113994033(A;A)
Reference rs113994033(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.27589747C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004333.2,


[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.