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rs113994066

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994066(C;T)
Make rs113994066(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184140541
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994066
ebirs113994066
HLIrs113994066
Exacrs113994066
Varsomers113994066
Maprs113994066
PheGenIrs113994066
hapmaprs113994066
1000 genomesrs113994066
hgdprs113994066
ensemblrs113994066
gopubmedrs113994066
geneviewrs113994066
scholarrs113994066
googlers113994066
pharmgkbrs113994066
gwascentralrs113994066
openSNPrs113994066
23andMers113994066
23andMe allrs113994066
SNP Nexus

SNPshotrs113994066
SNPdbers113994066
MSV3drs113994066
GWAS Ctlgrs113994066
Max Magnitude0
ClinVar
Risk rs113994066(T;T)
Alt rs113994066(T;T)
Reference rs113994066(C;C)
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.183858329C>T
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso