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rs113994034

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994034(A;A)
Make rs113994034(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position27366859
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994034
dbSNP (classic)rs113994034
ClinGenrs113994034
ebirs113994034
HLIrs113994034
Exacrs113994034
Gnomadrs113994034
Varsomers113994034
LitVarrs113994034
Maprs113994034
PheGenIrs113994034
Biobankrs113994034
1000 genomesrs113994034
hgdprs113994034
ensemblrs113994034
geneviewrs113994034
scholarrs113994034
googlers113994034
pharmgkbrs113994034
gwascentralrs113994034
openSNPrs113994034
23andMers113994034
SNPshotrs113994034
SNPdbers113994034
MSV3drs113994034
GWAS Ctlgrs113994034
Max Magnitude0
ClinVar
Risk rs113994034(A;A)
Alt rs113994034(A;A)
Reference Rs113994034(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.27589726C>T
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso