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rs113994080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994080(C;T)
Make rs113994080(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184142274
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994080
ebirs113994080
HLIrs113994080
Exacrs113994080
Varsomers113994080
Maprs113994080
PheGenIrs113994080
hapmaprs113994080
1000 genomesrs113994080
hgdprs113994080
ensemblrs113994080
gopubmedrs113994080
geneviewrs113994080
scholarrs113994080
googlers113994080
pharmgkbrs113994080
gwascentralrs113994080
openSNPrs113994080
23andMers113994080
23andMe allrs113994080
SNP Nexus

SNPshotrs113994080
SNPdbers113994080
MSV3drs113994080
GWAS Ctlgrs113994080
Max Magnitude0
ClinVar
Risk rs113994080(T;T)
Alt rs113994080(T;T)
Reference rs113994080(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.183860062C>T
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso