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rs113994073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994073(A;G)
Make rs113994073(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184140727
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994073
ebirs113994073
HLIrs113994073
Exacrs113994073
Varsomers113994073
Maprs113994073
PheGenIrs113994073
hapmaprs113994073
1000 genomesrs113994073
hgdprs113994073
ensemblrs113994073
gopubmedrs113994073
geneviewrs113994073
scholarrs113994073
googlers113994073
pharmgkbrs113994073
gwascentralrs113994073
openSNPrs113994073
23andMers113994073
23andMe allrs113994073
SNP Nexus

SNPshotrs113994073
SNPdbers113994073
MSV3drs113994073
GWAS Ctlgrs113994073
Max Magnitude0
ClinVar
Risk rs113994073(G;G)
Alt rs113994073(G;G)
Reference rs113994073(A;A)
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.183858515A>G
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso