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rs113994026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs113994026(-;-)
Make rs113994026(-;TG)
ReferenceGRCh38 38.1/141
Chromosome1
Position44874686
GeneEIF2B3
is asnp
is mentioned by
dbSNPrs113994026
ebirs113994026
HLIrs113994026
Exacrs113994026
Varsomers113994026
Maprs113994026
PheGenIrs113994026
hapmaprs113994026
1000 genomesrs113994026
hgdprs113994026
ensemblrs113994026
gopubmedrs113994026
geneviewrs113994026
scholarrs113994026
googlers113994026
pharmgkbrs113994026
gwascentralrs113994026
openSNPrs113994026
23andMers113994026
23andMe allrs113994026
SNP Nexus

SNPshotrs113994026
SNPdbers113994026
MSV3drs113994026
GWAS Ctlgrs113994026
Max Magnitude0
ClinVar
Risk rs113994026(;)
Alt rs113994026(;)
Reference rs113994026(TG;TG)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B3
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000001.10:g.45340358_45340359delCA
CLNSRC
CLNACC


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

OMIM603896
Desc
Variant
Relatedalso