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rs113994016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994016(A;G)
Make rs113994016(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position75006701
GeneEIF2B2
is asnp
is mentioned by
dbSNPrs113994016
ebirs113994016
HLIrs113994016
Exacrs113994016
Varsomers113994016
Maprs113994016
PheGenIrs113994016
hapmaprs113994016
1000 genomesrs113994016
hgdprs113994016
ensemblrs113994016
gopubmedrs113994016
geneviewrs113994016
scholarrs113994016
googlers113994016
pharmgkbrs113994016
gwascentralrs113994016
openSNPrs113994016
23andMers113994016
23andMe allrs113994016
SNP Nexus

SNPshotrs113994016
SNPdbers113994016
MSV3drs113994016
GWAS Ctlgrs113994016
Max Magnitude0
ClinVar
Risk rs113994016(G;G)
Alt rs113994016(G;G)
Reference rs113994016(A;A)
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.75473404A>G
CLNSRC
CLNACC


[PMID 14572143] Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.