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rs113994042

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994042(C;C)
Make rs113994042(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184135546
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994042
ebirs113994042
HLIrs113994042
Exacrs113994042
Varsomers113994042
Maprs113994042
PheGenIrs113994042
hapmaprs113994042
1000 genomesrs113994042
hgdprs113994042
ensemblrs113994042
gopubmedrs113994042
geneviewrs113994042
scholarrs113994042
googlers113994042
pharmgkbrs113994042
gwascentralrs113994042
openSNPrs113994042
23andMers113994042
23andMe allrs113994042
SNP Nexus

SNPshotrs113994042
SNPdbers113994042
MSV3drs113994042
GWAS Ctlgrs113994042
Max Magnitude0
ClinVar
Risk rs113994042(C;C)
Alt rs113994042(C;C)
Reference rs113994042(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.183853334G>C
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso