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rs113994054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994054(A;A)
Make rs113994054(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184137975
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994054
ebirs113994054
HLIrs113994054
Exacrs113994054
Varsomers113994054
Maprs113994054
PheGenIrs113994054
hapmaprs113994054
1000 genomesrs113994054
hgdprs113994054
ensemblrs113994054
gopubmedrs113994054
geneviewrs113994054
scholarrs113994054
googlers113994054
pharmgkbrs113994054
gwascentralrs113994054
openSNPrs113994054
23andMers113994054
23andMe allrs113994054
SNP Nexus

SNPshotrs113994054
SNPdbers113994054
MSV3drs113994054
GWAS Ctlgrs113994054
GMAF0.0004591
Max Magnitude0
OMIM603945
Desc
Variant0005
Relatedalso
ClinVar
Risk rs113994054(A;A)
Alt rs113994054(A;A)
Reference rs113994054(G;G)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B5
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 0
HGVS NC_000003.11:g.183855763G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006310.4,


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