Have questions? Visit https://www.reddit.com/r/SNPedia

rs113994077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994077(G;G)
Make rs113994077(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184142042
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994077
ebirs113994077
HLIrs113994077
Exacrs113994077
Varsomers113994077
Maprs113994077
PheGenIrs113994077
hapmaprs113994077
1000 genomesrs113994077
hgdprs113994077
ensemblrs113994077
gopubmedrs113994077
geneviewrs113994077
scholarrs113994077
googlers113994077
pharmgkbrs113994077
gwascentralrs113994077
openSNPrs113994077
23andMers113994077
23andMe allrs113994077
SNP Nexus

SNPshotrs113994077
SNPdbers113994077
MSV3drs113994077
GWAS Ctlgrs113994077
Max Magnitude0
ClinVar
Risk rs113994077(G;G)
Alt rs113994077(G;G)
Reference rs113994077(T;T)
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.183859830T>G
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso