Have questions? Visit https://www.reddit.com/r/SNPedia

rs28937596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28937596(C;C)
Make rs28937596(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184144111
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs28937596
ebirs28937596
HLIrs28937596
Exacrs28937596
Varsomers28937596
Maprs28937596
PheGenIrs28937596
hapmaprs28937596
1000 genomesrs28937596
hgdprs28937596
ensemblrs28937596
gopubmedrs28937596
geneviewrs28937596
scholarrs28937596
googlers28937596
pharmgkbrs28937596
gwascentralrs28937596
openSNPrs28937596
23andMers28937596
23andMe allrs28937596
SNP Nexus

SNPshotrs28937596
SNPdbers28937596
MSV3drs28937596
GWAS Ctlgrs28937596
Max Magnitude0
OMIM603945
DescLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
Variant0002
Relatedalso
Neighborrs843358
Distance656


ClinVar
Risk rs28937596(C;C)
Alt rs28937596(C;C)
Reference rs28937596(T;T)
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.183861899T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006306.3,



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