Rs104894425

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Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894425(A;G)
Make rs104894425(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position75005906
GeneEIF2B2
is asnp
is mentioned by
dbSNPrs104894425
Exacrs104894425
PheGenIrs104894425
nextbiors104894425
hapmaprs104894425
1000 genomesrs104894425
hgdprs104894425
ensemblrs104894425
gopubmedrs104894425
geneviewrs104894425
scholarrs104894425
googlers104894425
pharmgkbrs104894425
gwascentralrs104894425
openSNPrs104894425
23andMers104894425
23andMe allrs104894425
SNP Nexus

SNPshotrs104894425
SNPdbers104894425
MSV3drs104894425
Max Magnitude0
OMIM606454
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894425(G;G)
Alt rs104894425(G;G)
Reference rs104894425(A;A)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy
Variation info
Gene EIF2B2
CLNDBN Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy
Reversed 0
HGVS NC_000014.8:g.75472609A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004583.1, RCV000004584.1,


[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.