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rs113994074

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994074(G;T)
Make rs113994074(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184141925
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994074
ebirs113994074
HLIrs113994074
Exacrs113994074
Varsomers113994074
Maprs113994074
PheGenIrs113994074
hapmaprs113994074
1000 genomesrs113994074
hgdprs113994074
ensemblrs113994074
gopubmedrs113994074
geneviewrs113994074
scholarrs113994074
googlers113994074
pharmgkbrs113994074
gwascentralrs113994074
openSNPrs113994074
23andMers113994074
23andMe allrs113994074
SNP Nexus

SNPshotrs113994074
SNPdbers113994074
MSV3drs113994074
GWAS Ctlgrs113994074
Max Magnitude0
OMIM603945
Desc
Variant0003
Relatedalso
ClinVar
Risk rs113994074(T;T)
Alt rs113994074(T;T)
Reference rs113994074(G;G)
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.183859713G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006307.3,


[PMID 11704758] Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.