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rs113994024

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994024(A;A)
Make rs113994024(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position44881722
GeneEIF2B3
is asnp
is mentioned by
dbSNPrs113994024
ebirs113994024
HLIrs113994024
Exacrs113994024
Varsomers113994024
Maprs113994024
PheGenIrs113994024
hapmaprs113994024
1000 genomesrs113994024
hgdprs113994024
ensemblrs113994024
gopubmedrs113994024
geneviewrs113994024
scholarrs113994024
googlers113994024
pharmgkbrs113994024
gwascentralrs113994024
openSNPrs113994024
23andMers113994024
23andMe allrs113994024
SNP Nexus

SNPshotrs113994024
SNPdbers113994024
MSV3drs113994024
GWAS Ctlgrs113994024
Max Magnitude0
OMIM606273
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994024(A;A)
Alt rs113994024(A;A)
Reference rs113994024(G;G)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B3
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000001.10:g.45347394C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004687.3,


[PMID 14572143] Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.