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rs113994018

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994018(G;T)
Make rs113994018(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position75009042
GeneEIF2B2
is asnp
is mentioned by
dbSNPrs113994018
dbSNP (classic)rs113994018
ClinGenrs113994018
ebirs113994018
HLIrs113994018
Exacrs113994018
Gnomadrs113994018
Varsomers113994018
LitVarrs113994018
Maprs113994018
PheGenIrs113994018
Biobankrs113994018
1000 genomesrs113994018
hgdprs113994018
ensemblrs113994018
geneviewrs113994018
scholarrs113994018
googlers113994018
pharmgkbrs113994018
gwascentralrs113994018
openSNPrs113994018
23andMers113994018
SNPshotrs113994018
SNPdbers113994018
MSV3drs113994018
GWAS Ctlgrs113994018
Max Magnitude0
ClinVar
Risk rs113994018(T;T)
Alt rs113994018(T;T)
Reference Rs113994018(G;G)
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.75475745G>T
CLNSRC
CLNACC