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rs113994050

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994050(C;T)
Make rs113994050(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184137636
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994050
ebirs113994050
HLIrs113994050
Exacrs113994050
Varsomers113994050
Maprs113994050
PheGenIrs113994050
hapmaprs113994050
1000 genomesrs113994050
hgdprs113994050
ensemblrs113994050
gopubmedrs113994050
geneviewrs113994050
scholarrs113994050
googlers113994050
pharmgkbrs113994050
gwascentralrs113994050
openSNPrs113994050
23andMers113994050
23andMe allrs113994050
SNP Nexus

SNPshotrs113994050
SNPdbers113994050
MSV3drs113994050
GWAS Ctlgrs113994050
Max Magnitude0
ClinVar
Risk rs113994050(T;T)
Alt rs113994050(T;T)
Reference rs113994050(C;C)
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.183855424C>T
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso