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rs113994053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994053(C;T)
Make rs113994053(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184137936
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994053
ebirs113994053
HLIrs113994053
Exacrs113994053
Varsomers113994053
Maprs113994053
PheGenIrs113994053
hapmaprs113994053
1000 genomesrs113994053
hgdprs113994053
ensemblrs113994053
gopubmedrs113994053
geneviewrs113994053
scholarrs113994053
googlers113994053
pharmgkbrs113994053
gwascentralrs113994053
openSNPrs113994053
23andMers113994053
23andMe allrs113994053
SNP Nexus

SNPshotrs113994053
SNPdbers113994053
MSV3drs113994053
GWAS Ctlgrs113994053
Max Magnitude0
OMIM603945
Desc
Variant0008
Relatedalso
ClinVar
Risk rs113994053(T;T)
Alt rs113994053(T;T)
Reference rs113994053(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.183855724C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006313.3,


[PMID 15136690] Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.