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rs113994021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994021(A;A)
Make rs113994021(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position44981033
GeneEIF2B3
is asnp
is mentioned by
dbSNPrs113994021
ebirs113994021
HLIrs113994021
Exacrs113994021
Varsomers113994021
Maprs113994021
PheGenIrs113994021
hapmaprs113994021
1000 genomesrs113994021
hgdprs113994021
ensemblrs113994021
gopubmedrs113994021
geneviewrs113994021
scholarrs113994021
googlers113994021
pharmgkbrs113994021
gwascentralrs113994021
openSNPrs113994021
23andMers113994021
23andMe allrs113994021
SNP Nexus

SNPshotrs113994021
SNPdbers113994021
MSV3drs113994021
GWAS Ctlgrs113994021
Max Magnitude0
ClinVar
Risk rs113994021(A;A)
Alt rs113994021(A;A)
Reference rs113994021(G;G)
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.45446705C>T
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso