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rs113994041

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994041(A;A)
Make rs113994041(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position184135432
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994041
ebirs113994041
HLIrs113994041
Exacrs113994041
Varsomers113994041
Maprs113994041
PheGenIrs113994041
hapmaprs113994041
1000 genomesrs113994041
hgdprs113994041
ensemblrs113994041
gopubmedrs113994041
geneviewrs113994041
scholarrs113994041
googlers113994041
pharmgkbrs113994041
gwascentralrs113994041
openSNPrs113994041
23andMers113994041
23andMe allrs113994041
SNP Nexus

SNPshotrs113994041
SNPdbers113994041
MSV3drs113994041
GWAS Ctlgrs113994041
Max Magnitude0
ClinVar
Risk rs113994041(A;A)
Alt rs113994041(A;A)
Reference rs113994041(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.183853220C>A
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso