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rs113994085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994085(A;A)
Make rs113994085(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184144177
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994085
dbSNP (old)rs113994085
ClinGenrs113994085
ebirs113994085
HLIrs113994085
Exacrs113994085
Gnomadrs113994085
Varsomers113994085
Maprs113994085
PheGenIrs113994085
Biobankrs113994085
1000 genomesrs113994085
hgdprs113994085
ensemblrs113994085
gopubmedrs113994085
geneviewrs113994085
scholarrs113994085
googlers113994085
pharmgkbrs113994085
gwascentralrs113994085
openSNPrs113994085
23andMers113994085
23andMe allrs113994085
SNP Nexus

SNPshotrs113994085
SNPdbers113994085
MSV3drs113994085
GWAS Ctlgrs113994085
Max Magnitude0
ClinVar
Risk rs113994085(A;A)
Alt rs113994085(A;A)
Reference Rs113994085(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.183861965G>A
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso