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rs113994017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994017(C;T)
Make rs113994017(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position75007761
GeneEIF2B2
is asnp
is mentioned by
dbSNPrs113994017
ebirs113994017
HLIrs113994017
Exacrs113994017
Varsomers113994017
Maprs113994017
PheGenIrs113994017
hapmaprs113994017
1000 genomesrs113994017
hgdprs113994017
ensemblrs113994017
gopubmedrs113994017
geneviewrs113994017
scholarrs113994017
googlers113994017
pharmgkbrs113994017
gwascentralrs113994017
openSNPrs113994017
23andMers113994017
23andMe allrs113994017
SNP Nexus

SNPshotrs113994017
SNPdbers113994017
MSV3drs113994017
GWAS Ctlgrs113994017
Max Magnitude0
ClinVar
Risk rs113994017(T;T)
Alt rs113994017(T;T)
Reference rs113994017(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.75474464C>T
CLNSRC
CLNACC