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rs113994061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994061(C;C)
Make rs113994061(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184140499
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994061
ebirs113994061
HLIrs113994061
Exacrs113994061
Varsomers113994061
Maprs113994061
PheGenIrs113994061
hapmaprs113994061
1000 genomesrs113994061
hgdprs113994061
ensemblrs113994061
gopubmedrs113994061
geneviewrs113994061
scholarrs113994061
googlers113994061
pharmgkbrs113994061
gwascentralrs113994061
openSNPrs113994061
23andMers113994061
23andMe allrs113994061
SNP Nexus

SNPshotrs113994061
SNPdbers113994061
MSV3drs113994061
GWAS Ctlgrs113994061
Max Magnitude0
OMIM603945
Desc
Variant0006
Relatedalso
ClinVar
Risk rs113994061(C;C)
Alt rs113994061(C;C)
Reference rs113994061(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.183858287G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006311.3,


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