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rs113994020

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994020(G;T)
Make rs113994020(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position75009118
GeneEIF2B2
is asnp
is mentioned by
dbSNPrs113994020
ebirs113994020
HLIrs113994020
Exacrs113994020
Varsomers113994020
Maprs113994020
PheGenIrs113994020
hapmaprs113994020
1000 genomesrs113994020
hgdprs113994020
ensemblrs113994020
gopubmedrs113994020
geneviewrs113994020
scholarrs113994020
googlers113994020
pharmgkbrs113994020
gwascentralrs113994020
openSNPrs113994020
23andMers113994020
23andMe allrs113994020
SNP Nexus

SNPshotrs113994020
SNPdbers113994020
MSV3drs113994020
GWAS Ctlgrs113994020
Max Magnitude0
ClinVar
Risk rs113994020(T;T)
Alt rs113994020(T;T)
Reference rs113994020(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.75475821G>T
CLNSRC
CLNACC


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