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rs113994058

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994058(C;G)
Make rs113994058(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184140119
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994058
ebirs113994058
HLIrs113994058
Exacrs113994058
Varsomers113994058
Maprs113994058
PheGenIrs113994058
hapmaprs113994058
1000 genomesrs113994058
hgdprs113994058
ensemblrs113994058
gopubmedrs113994058
geneviewrs113994058
scholarrs113994058
googlers113994058
pharmgkbrs113994058
gwascentralrs113994058
openSNPrs113994058
23andMers113994058
23andMe allrs113994058
SNP Nexus

SNPshotrs113994058
SNPdbers113994058
MSV3drs113994058
GWAS Ctlgrs113994058
Max Magnitude0
ClinVar
Risk rs113994058(G;G)
Alt rs113994058(G;G)
Reference rs113994058(C;C)
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.183857907C>G
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso