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rs113994045

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994045(G;G)
Make rs113994045(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184136634
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994045
ebirs113994045
HLIrs113994045
Exacrs113994045
Varsomers113994045
Maprs113994045
PheGenIrs113994045
hapmaprs113994045
1000 genomesrs113994045
hgdprs113994045
ensemblrs113994045
gopubmedrs113994045
geneviewrs113994045
scholarrs113994045
googlers113994045
pharmgkbrs113994045
gwascentralrs113994045
openSNPrs113994045
23andMers113994045
23andMe allrs113994045
SNP Nexus

SNPshotrs113994045
SNPdbers113994045
MSV3drs113994045
GWAS Ctlgrs113994045
Max Magnitude0
ClinVar
Risk rs113994045(G;G)
Alt rs113994045(G;G)
Reference rs113994045(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.183854422T>G
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso