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rs113994047

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994047(A;A)
Make rs113994047(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184136657
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994047
ebirs113994047
HLIrs113994047
Exacrs113994047
Varsomers113994047
Maprs113994047
PheGenIrs113994047
hapmaprs113994047
1000 genomesrs113994047
hgdprs113994047
ensemblrs113994047
gopubmedrs113994047
geneviewrs113994047
scholarrs113994047
googlers113994047
pharmgkbrs113994047
gwascentralrs113994047
openSNPrs113994047
23andMers113994047
23andMe allrs113994047
SNP Nexus

SNPshotrs113994047
SNPdbers113994047
MSV3drs113994047
GWAS Ctlgrs113994047
Max Magnitude0
ClinVar
Risk rs113994047(A;A)
Alt rs113994047(A;A)
Reference rs113994047(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.183854445G>A
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso