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rs113994062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994062(G;T)
Make rs113994062(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184140503
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994062
ebirs113994062
HLIrs113994062
Exacrs113994062
Varsomers113994062
Maprs113994062
PheGenIrs113994062
hapmaprs113994062
1000 genomesrs113994062
hgdprs113994062
ensemblrs113994062
gopubmedrs113994062
geneviewrs113994062
scholarrs113994062
googlers113994062
pharmgkbrs113994062
gwascentralrs113994062
openSNPrs113994062
23andMers113994062
23andMe allrs113994062
SNP Nexus

SNPshotrs113994062
SNPdbers113994062
MSV3drs113994062
GWAS Ctlgrs113994062
Max Magnitude0
ClinVar
Risk rs113994062(T;T)
Alt rs113994062(T;T)
Reference rs113994062(G;G)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B5
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 0
HGVS NC_000003.11:g.183858291G>T
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso