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rs113994006

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994006(A;A)
Make rs113994006(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position123630396
GeneEIF2B1
is asnp
is mentioned by
dbSNPrs113994006
ebirs113994006
HLIrs113994006
Exacrs113994006
Varsomers113994006
Maprs113994006
PheGenIrs113994006
hapmaprs113994006
1000 genomesrs113994006
hgdprs113994006
ensemblrs113994006
gopubmedrs113994006
geneviewrs113994006
scholarrs113994006
googlers113994006
pharmgkbrs113994006
gwascentralrs113994006
openSNPrs113994006
23andMers113994006
23andMe allrs113994006
SNP Nexus

SNPshotrs113994006
SNPdbers113994006
MSV3drs113994006
GWAS Ctlgrs113994006
GMAF0.0004591
Max Magnitude0
OMIM606686
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994006(A;A)
Alt rs113994006(A;A)
Reference rs113994006(G;G)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B1
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000012.11:g.124114943C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004339.3,


[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.