Rs104894426

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Orientationplus
is asnp
is mentioned by
dbSNPrs104894426
PheGenIrs104894426
nextbiors104894426
hapmaprs104894426
1000 genomesrs104894426
hgdprs104894426
ensemblrs104894426
gopubmedrs104894426
geneviewrs104894426
scholarrs104894426
googlers104894426
pharmgkbrs104894426
gwascentralrs104894426
openSNPrs104894426
23andMers104894426
23andMe allrs104894426
SNP Nexus

SNPshotrs104894426
SNPdbers104894426
MSV3drs104894426
GeneEIF2B2
Chromosome14
Orientationplus
Position75475782
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894426(A;A)
Make rs104894426(A;T)
OMIM606454
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894426(A;A)
Alt rs104894426(A;A)
Reference rs104894426(T;T)
Significance 5
Disease Leukoencephalopathy with vanishing white matter
ClinVar info
Gene EIF2B2
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 0
CLNHGVS NC_000014.8:g.75475782T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004585.1


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


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