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rs113994056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994056(ACA;ACA)
Make rs113994056(ACA;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184140106
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994056
ebirs113994056
HLIrs113994056
Exacrs113994056
Varsomers113994056
Maprs113994056
PheGenIrs113994056
hapmaprs113994056
1000 genomesrs113994056
hgdprs113994056
ensemblrs113994056
gopubmedrs113994056
geneviewrs113994056
scholarrs113994056
googlers113994056
pharmgkbrs113994056
gwascentralrs113994056
openSNPrs113994056
23andMers113994056
23andMe allrs113994056
SNP Nexus

SNPshotrs113994056
SNPdbers113994056
MSV3drs113994056
GWAS Ctlgrs113994056
Max Magnitude0
ClinVar
Risk rs113994056(ACA;ACA)
Alt rs113994056(ACA;ACA)
Reference rs113994056(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.183857894delTinsACA
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso