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rs113994039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994039(C;T)
Make rs113994039(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position27364525
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994039
ebirs113994039
HLIrs113994039
Exacrs113994039
Varsomers113994039
Maprs113994039
PheGenIrs113994039
hapmaprs113994039
1000 genomesrs113994039
hgdprs113994039
ensemblrs113994039
gopubmedrs113994039
geneviewrs113994039
scholarrs113994039
googlers113994039
pharmgkbrs113994039
gwascentralrs113994039
openSNPrs113994039
23andMers113994039
23andMe allrs113994039
SNP Nexus

SNPshotrs113994039
SNPdbers113994039
MSV3drs113994039
GWAS Ctlgrs113994039
Max Magnitude0
ClinVar
Risk rs113994039(T;T)
Alt rs113994039(T;T)
Reference rs113994039(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.27587392G>A
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso