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rs113994076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994076(C;T)
Make rs113994076(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184142032
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994076
ebirs113994076
HLIrs113994076
Exacrs113994076
Varsomers113994076
Maprs113994076
PheGenIrs113994076
hapmaprs113994076
1000 genomesrs113994076
hgdprs113994076
ensemblrs113994076
gopubmedrs113994076
geneviewrs113994076
scholarrs113994076
googlers113994076
pharmgkbrs113994076
gwascentralrs113994076
openSNPrs113994076
23andMers113994076
23andMe allrs113994076
SNP Nexus

SNPshotrs113994076
SNPdbers113994076
MSV3drs113994076
GWAS Ctlgrs113994076
Max Magnitude0
ClinVar
Risk rs113994076(T;T)
Alt rs113994076(T;T)
Reference rs113994076(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.183859820C>T
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso