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rs113994079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994079(C;C)
Make rs113994079(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184142057
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994079
ebirs113994079
HLIrs113994079
Exacrs113994079
Varsomers113994079
Maprs113994079
PheGenIrs113994079
hapmaprs113994079
1000 genomesrs113994079
hgdprs113994079
ensemblrs113994079
gopubmedrs113994079
geneviewrs113994079
scholarrs113994079
googlers113994079
pharmgkbrs113994079
gwascentralrs113994079
openSNPrs113994079
23andMers113994079
23andMe allrs113994079
SNP Nexus

SNPshotrs113994079
SNPdbers113994079
MSV3drs113994079
GWAS Ctlgrs113994079
Max Magnitude0
ClinVar
Risk rs113994079(C;C)
Alt rs113994079(C;C)
Reference rs113994079(T;T)
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.183859845T>C
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso