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rs113994011

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994011(C;T)
Make rs113994011(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position75004889
GeneEIF2B2
is asnp
is mentioned by
dbSNPrs113994011
ebirs113994011
HLIrs113994011
Exacrs113994011
Varsomers113994011
Maprs113994011
PheGenIrs113994011
hapmaprs113994011
1000 genomesrs113994011
hgdprs113994011
ensemblrs113994011
gopubmedrs113994011
geneviewrs113994011
scholarrs113994011
googlers113994011
pharmgkbrs113994011
gwascentralrs113994011
openSNPrs113994011
23andMers113994011
23andMe allrs113994011
SNP Nexus

SNPshotrs113994011
SNPdbers113994011
MSV3drs113994011
GWAS Ctlgrs113994011
Max Magnitude0
ClinVar
Risk rs113994011(T;T)
Alt rs113994011(T;T)
Reference rs113994011(C;C)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B2
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 0
HGVS NC_000014.8:g.75471592C>T
CLNSRC
CLNACC