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rs113994029

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994029(C;T)
Make rs113994029(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position27368105
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994029
ebirs113994029
HLIrs113994029
Exacrs113994029
Varsomers113994029
Maprs113994029
PheGenIrs113994029
hapmaprs113994029
1000 genomesrs113994029
hgdprs113994029
ensemblrs113994029
gopubmedrs113994029
geneviewrs113994029
scholarrs113994029
googlers113994029
pharmgkbrs113994029
gwascentralrs113994029
openSNPrs113994029
23andMers113994029
23andMe allrs113994029
SNP Nexus

SNPshotrs113994029
SNPdbers113994029
MSV3drs113994029
GWAS Ctlgrs113994029
Max Magnitude0
ClinVar
Risk rs113994029(T;T)
Alt rs113994029(T;T)
Reference rs113994029(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.27590972G>A
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso