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rs113994083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994083(-;-)
Make rs113994083(-;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position184143509
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994083
ebirs113994083
HLIrs113994083
Exacrs113994083
Varsomers113994083
Maprs113994083
PheGenIrs113994083
hapmaprs113994083
1000 genomesrs113994083
hgdprs113994083
ensemblrs113994083
gopubmedrs113994083
geneviewrs113994083
scholarrs113994083
googlers113994083
pharmgkbrs113994083
gwascentralrs113994083
openSNPrs113994083
23andMers113994083
23andMe allrs113994083
SNP Nexus

SNPshotrs113994083
SNPdbers113994083
MSV3drs113994083
GWAS Ctlgrs113994083
Max Magnitude0
ClinVar
Risk rs113994083(;)
Alt rs113994083(;)
Reference rs113994083(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.183861297delC
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso