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rs113994060

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994060(A;A)
Make rs113994060(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184140470
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994060
ebirs113994060
HLIrs113994060
Exacrs113994060
Varsomers113994060
Maprs113994060
PheGenIrs113994060
hapmaprs113994060
1000 genomesrs113994060
hgdprs113994060
ensemblrs113994060
gopubmedrs113994060
geneviewrs113994060
scholarrs113994060
googlers113994060
pharmgkbrs113994060
gwascentralrs113994060
openSNPrs113994060
23andMers113994060
23andMe allrs113994060
SNP Nexus

SNPshotrs113994060
SNPdbers113994060
MSV3drs113994060
GWAS Ctlgrs113994060
Max Magnitude0
ClinVar
Risk rs113994060(A;A)
Alt rs113994060(A;A)
Reference rs113994060(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.183858258G>A
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso