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rs113994068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994068(C;T)
Make rs113994068(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184140589
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994068
ebirs113994068
HLIrs113994068
Exacrs113994068
Varsomers113994068
Maprs113994068
PheGenIrs113994068
hapmaprs113994068
1000 genomesrs113994068
hgdprs113994068
ensemblrs113994068
gopubmedrs113994068
geneviewrs113994068
scholarrs113994068
googlers113994068
pharmgkbrs113994068
gwascentralrs113994068
openSNPrs113994068
23andMers113994068
23andMe allrs113994068
SNP Nexus

SNPshotrs113994068
SNPdbers113994068
MSV3drs113994068
GWAS Ctlgrs113994068
Max Magnitude0
ClinVar
Risk rs113994068(T;T)
Alt rs113994068(T;T)
Reference rs113994068(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.183858377C>T
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso