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rs113994032

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994032(C;T)
Make rs113994032(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position27366881
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994032
ebirs113994032
HLIrs113994032
Exacrs113994032
Varsomers113994032
Maprs113994032
PheGenIrs113994032
hapmaprs113994032
1000 genomesrs113994032
hgdprs113994032
ensemblrs113994032
gopubmedrs113994032
geneviewrs113994032
scholarrs113994032
googlers113994032
pharmgkbrs113994032
gwascentralrs113994032
openSNPrs113994032
23andMers113994032
23andMe allrs113994032
SNP Nexus

SNPshotrs113994032
SNPdbers113994032
MSV3drs113994032
GWAS Ctlgrs113994032
Max Magnitude0
ClinVar
Risk rs113994032(T;T)
Alt rs113994032(T;T)
Reference rs113994032(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.27589748G>A
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso