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rs113994049

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994049(A;A)
Make rs113994049(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184137637
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994049
ebirs113994049
HLIrs113994049
Exacrs113994049
Varsomers113994049
Maprs113994049
PheGenIrs113994049
hapmaprs113994049
1000 genomesrs113994049
hgdprs113994049
ensemblrs113994049
gopubmedrs113994049
geneviewrs113994049
scholarrs113994049
googlers113994049
pharmgkbrs113994049
gwascentralrs113994049
openSNPrs113994049
23andMers113994049
23andMe allrs113994049
SNP Nexus

SNPshotrs113994049
SNPdbers113994049
MSV3drs113994049
GWAS Ctlgrs113994049
GMAF0.0004591
Max Magnitude0
OMIM603945
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113994049(A;A)
Alt rs113994049(A;A)
Reference rs113994049(G;G)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy
Variation info
Gene EIF2B5
CLNDBN Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy
Reversed 0
HGVS NC_000003.11:g.183855425G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006308.4, RCV000006309.3,


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


[PMID 12707859OA-icon.png] Ovarian failure related to eukaryotic initiation factor 2B mutations.


[PMID 14572143] Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.


[PMID 14694060] Leukoencephalopathy with vanishing white matter:: an adult onset case.


[PMID 15136689] Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults.