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rs113994007

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994007(A;T)
Make rs113994007(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position123624792
GeneEIF2B1
is asnp
is mentioned by
dbSNPrs113994007
ebirs113994007
HLIrs113994007
Exacrs113994007
Varsomers113994007
Maprs113994007
PheGenIrs113994007
hapmaprs113994007
1000 genomesrs113994007
hgdprs113994007
ensemblrs113994007
gopubmedrs113994007
geneviewrs113994007
scholarrs113994007
googlers113994007
pharmgkbrs113994007
gwascentralrs113994007
openSNPrs113994007
23andMers113994007
23andMe allrs113994007
SNP Nexus

SNPshotrs113994007
SNPdbers113994007
MSV3drs113994007
GWAS Ctlgrs113994007
Max Magnitude0
OMIM606686
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113994007(T;T)
Alt rs113994007(T;T)
Reference rs113994007(A;A)
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.124109339T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004340.5,


[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.