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rs113994067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994067(C;C)
Make rs113994067(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184140577
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994067
ebirs113994067
HLIrs113994067
Exacrs113994067
Varsomers113994067
Maprs113994067
PheGenIrs113994067
hapmaprs113994067
1000 genomesrs113994067
hgdprs113994067
ensemblrs113994067
gopubmedrs113994067
geneviewrs113994067
scholarrs113994067
googlers113994067
pharmgkbrs113994067
gwascentralrs113994067
openSNPrs113994067
23andMers113994067
23andMe allrs113994067
SNP Nexus

SNPshotrs113994067
SNPdbers113994067
MSV3drs113994067
GWAS Ctlgrs113994067
Max Magnitude0
ClinVar
Risk rs113994067(C;C)
Alt rs113994067(C;C)
Reference rs113994067(T;T)
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.183858365T>C
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso