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rs113994055

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994055(C;T)
Make rs113994055(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184137974
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994055
ebirs113994055
HLIrs113994055
Exacrs113994055
Varsomers113994055
Maprs113994055
PheGenIrs113994055
hapmaprs113994055
1000 genomesrs113994055
hgdprs113994055
ensemblrs113994055
gopubmedrs113994055
geneviewrs113994055
scholarrs113994055
googlers113994055
pharmgkbrs113994055
gwascentralrs113994055
openSNPrs113994055
23andMers113994055
23andMe allrs113994055
SNP Nexus

SNPshotrs113994055
SNPdbers113994055
MSV3drs113994055
GWAS Ctlgrs113994055
Max Magnitude0
OMIM603945
Desc
Variant0007
Relatedalso
ClinVar
Risk rs113994055(T;T)
Alt rs113994055(T;T)
Reference rs113994055(C;C)
Significance Pathogenic
Disease Ovarioleukodystrophy
Variation info
Gene EIF2B5
CLNDBN Ovarioleukodystrophy
Reversed 0
HGVS NC_000003.11:g.183855762C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006312.2,


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