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rs113994082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994082(A;G)
Make rs113994082(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184142541
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs113994082
dbSNP (classic)rs113994082
ClinGenrs113994082
ebirs113994082
HLIrs113994082
Exacrs113994082
Gnomadrs113994082
Varsomers113994082
LitVarrs113994082
Maprs113994082
PheGenIrs113994082
Biobankrs113994082
1000 genomesrs113994082
hgdprs113994082
ensemblrs113994082
geneviewrs113994082
scholarrs113994082
googlers113994082
pharmgkbrs113994082
gwascentralrs113994082
openSNPrs113994082
23andMers113994082
SNPshotrs113994082
SNPdbers113994082
MSV3drs113994082
GWAS Ctlgrs113994082
Max Magnitude0
ClinVar
Risk rs113994082(G;G)
Alt rs113994082(G;G)
Reference Rs113994082(A;A)
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.183860329A>G
CLNSRC
CLNACC


OMIM603896
Desc
Variant
Relatedalso