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rs113994051

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994051(C;T)
Make rs113994051(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184137705
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994051
ebirs113994051
HLIrs113994051
Exacrs113994051
Varsomers113994051
Maprs113994051
PheGenIrs113994051
hapmaprs113994051
1000 genomesrs113994051
hgdprs113994051
ensemblrs113994051
gopubmedrs113994051
geneviewrs113994051
scholarrs113994051
googlers113994051
pharmgkbrs113994051
gwascentralrs113994051
openSNPrs113994051
23andMers113994051
23andMe allrs113994051
SNP Nexus

SNPshotrs113994051
SNPdbers113994051
MSV3drs113994051
GWAS Ctlgrs113994051
Max Magnitude0
ClinVar
Risk rs113994051(T;T)
Alt rs113994051(T;T)
Reference rs113994051(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.183855493C>T
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso