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rs113994031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994031(G;G)
Make rs113994031(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position27367536
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994031
ebirs113994031
HLIrs113994031
Exacrs113994031
Varsomers113994031
Maprs113994031
PheGenIrs113994031
hapmaprs113994031
1000 genomesrs113994031
hgdprs113994031
ensemblrs113994031
gopubmedrs113994031
geneviewrs113994031
scholarrs113994031
googlers113994031
pharmgkbrs113994031
gwascentralrs113994031
openSNPrs113994031
23andMers113994031
23andMe allrs113994031
SNP Nexus

SNPshotrs113994031
SNPdbers113994031
MSV3drs113994031
GWAS Ctlgrs113994031
Max Magnitude0
ClinVar
Risk rs113994031(C,G;C,G)
Alt rs113994031(C,G;C,G)
Reference rs113994031(T;T)
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.27590403A>C
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso