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rs113994010

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994010(-;-)
Make rs113994010(-;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position75004851
GeneEIF2B2
is asnp
is mentioned by
dbSNPrs113994010
dbSNP (classic)rs113994010
ClinGenrs113994010
ebirs113994010
HLIrs113994010
Exacrs113994010
Gnomadrs113994010
Varsomers113994010
LitVarrs113994010
Maprs113994010
PheGenIrs113994010
Biobankrs113994010
1000 genomesrs113994010
hgdprs113994010
ensemblrs113994010
geneviewrs113994010
scholarrs113994010
googlers113994010
pharmgkbrs113994010
gwascentralrs113994010
openSNPrs113994010
23andMers113994010
SNPshotrs113994010
SNPdbers113994010
MSV3drs113994010
GWAS Ctlgrs113994010
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs113994010(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.75471554delG
CLNSRC
CLNACC