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rs113994078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994078(C;T)
Make rs113994078(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184142048
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994078
ebirs113994078
HLIrs113994078
Exacrs113994078
Varsomers113994078
Maprs113994078
PheGenIrs113994078
hapmaprs113994078
1000 genomesrs113994078
hgdprs113994078
ensemblrs113994078
gopubmedrs113994078
geneviewrs113994078
scholarrs113994078
googlers113994078
pharmgkbrs113994078
gwascentralrs113994078
openSNPrs113994078
23andMers113994078
23andMe allrs113994078
SNP Nexus

SNPshotrs113994078
SNPdbers113994078
MSV3drs113994078
GWAS Ctlgrs113994078
Max Magnitude0
ClinVar
Risk rs113994078(T;T)
Alt rs113994078(T;T)
Reference rs113994078(C;C)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B5
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 0
HGVS NC_000003.11:g.183859836C>T
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso