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rs113994023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994023(A;C)
Make rs113994023(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position44941553
GeneEIF2B3
is asnp
is mentioned by
dbSNPrs113994023
ebirs113994023
HLIrs113994023
Exacrs113994023
Varsomers113994023
Maprs113994023
PheGenIrs113994023
hapmaprs113994023
1000 genomesrs113994023
hgdprs113994023
ensemblrs113994023
gopubmedrs113994023
geneviewrs113994023
scholarrs113994023
googlers113994023
pharmgkbrs113994023
gwascentralrs113994023
openSNPrs113994023
23andMers113994023
23andMe allrs113994023
SNP Nexus

SNPshotrs113994023
SNPdbers113994023
MSV3drs113994023
GWAS Ctlgrs113994023
Max Magnitude0
ClinVar
Risk rs113994023(C;C)
Alt rs113994023(C;C)
Reference rs113994023(A;A)
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.45407225T>G
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso