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rs113994040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994040(C;C)
Make rs113994040(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position27364507
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994040
ebirs113994040
HLIrs113994040
Exacrs113994040
Varsomers113994040
Maprs113994040
PheGenIrs113994040
hapmaprs113994040
1000 genomesrs113994040
hgdprs113994040
ensemblrs113994040
gopubmedrs113994040
geneviewrs113994040
scholarrs113994040
googlers113994040
pharmgkbrs113994040
gwascentralrs113994040
openSNPrs113994040
23andMers113994040
23andMe allrs113994040
SNP Nexus

SNPshotrs113994040
SNPdbers113994040
MSV3drs113994040
GWAS Ctlgrs113994040
Max Magnitude0
OMIM606687
Desc
Variant0006
Relatedalso
ClinVar
Risk rs113994040(C;C)
Alt rs113994040(C;C)
Reference rs113994040(T;T)
Significance Pathogenic
Disease Ovarioleukodystrophy
Variation info
Gene EIF2B4
CLNDBN Ovarioleukodystrophy
Reversed 1
HGVS NC_000002.11:g.27587374A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004338.3,


[PMID 12707859OA-icon.png] Ovarian failure related to eukaryotic initiation factor 2B mutations.