Have questions? Visit https://www.reddit.com/r/SNPedia

rs113994030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994030(C;T)
Make rs113994030(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position27367800
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994030
ebirs113994030
HLIrs113994030
Exacrs113994030
Varsomers113994030
Maprs113994030
PheGenIrs113994030
hapmaprs113994030
1000 genomesrs113994030
hgdprs113994030
ensemblrs113994030
gopubmedrs113994030
geneviewrs113994030
scholarrs113994030
googlers113994030
pharmgkbrs113994030
gwascentralrs113994030
openSNPrs113994030
23andMers113994030
23andMe allrs113994030
SNP Nexus

SNPshotrs113994030
SNPdbers113994030
MSV3drs113994030
GWAS Ctlgrs113994030
Max Magnitude0
ClinVar
Risk rs113994030(T;T)
Alt rs113994030(T;T)
Reference rs113994030(C;C)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B4
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000002.11:g.27590667G>A
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso