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rs113994043

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994043(G;G)
Make rs113994043(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184135551
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994043
ebirs113994043
HLIrs113994043
Exacrs113994043
Varsomers113994043
Maprs113994043
PheGenIrs113994043
hapmaprs113994043
1000 genomesrs113994043
hgdprs113994043
ensemblrs113994043
gopubmedrs113994043
geneviewrs113994043
scholarrs113994043
googlers113994043
pharmgkbrs113994043
gwascentralrs113994043
openSNPrs113994043
23andMers113994043
23andMe allrs113994043
SNP Nexus

SNPshotrs113994043
SNPdbers113994043
MSV3drs113994043
GWAS Ctlgrs113994043
Max Magnitude0
OMIM603945
Desc
Variant0010
Relatedalso
ClinVar
Risk rs113994043(G;G)
Alt rs113994043(G;G)
Reference rs113994043(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.183853339T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006315.4,


[PMID 17646634] Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.