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rs113994046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994046(A;A)
Make rs113994046(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184136636
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994046
ebirs113994046
HLIrs113994046
Exacrs113994046
Varsomers113994046
Maprs113994046
PheGenIrs113994046
hapmaprs113994046
1000 genomesrs113994046
hgdprs113994046
ensemblrs113994046
gopubmedrs113994046
geneviewrs113994046
scholarrs113994046
googlers113994046
pharmgkbrs113994046
gwascentralrs113994046
openSNPrs113994046
23andMers113994046
23andMe allrs113994046
SNP Nexus

SNPshotrs113994046
SNPdbers113994046
MSV3drs113994046
GWAS Ctlgrs113994046
Max Magnitude0
ClinVar
Risk rs113994046(A;A)
Alt rs113994046(A;A)
Reference rs113994046(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.183854424G>A
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso