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rs113994038

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994038(C;C)
Make rs113994038(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position27364579
GeneEIF2B4
is asnp
is mentioned by
dbSNPrs113994038
ebirs113994038
HLIrs113994038
Exacrs113994038
Varsomers113994038
Maprs113994038
PheGenIrs113994038
hapmaprs113994038
1000 genomesrs113994038
hgdprs113994038
ensemblrs113994038
gopubmedrs113994038
geneviewrs113994038
scholarrs113994038
googlers113994038
pharmgkbrs113994038
gwascentralrs113994038
openSNPrs113994038
23andMers113994038
23andMe allrs113994038
SNP Nexus

SNPshotrs113994038
SNPdbers113994038
MSV3drs113994038
GWAS Ctlgrs113994038
Max Magnitude0
OMIM606687
Desc
Variant0005
Relatedalso
ClinVar
Risk rs113994038(C;C)
Alt rs113994038(C;C)
Reference rs113994038(T;T)
Significance Pathogenic
Disease Ovarioleukodystrophy
Variation info
Gene EIF2B4
CLNDBN Ovarioleukodystrophy
Reversed 1
HGVS NC_000002.11:g.27587446A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004337.2,


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