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rs121908541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908541(G;G)
Make rs121908541(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184135552
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs121908541
ebirs121908541
HLIrs121908541
Exacrs121908541
Varsomers121908541
Maprs121908541
PheGenIrs121908541
hapmaprs121908541
1000 genomesrs121908541
hgdprs121908541
ensemblrs121908541
gopubmedrs121908541
geneviewrs121908541
scholarrs121908541
googlers121908541
pharmgkbrs121908541
gwascentralrs121908541
openSNPrs121908541
23andMers121908541
23andMe allrs121908541
SNP Nexus

SNPshotrs121908541
SNPdbers121908541
MSV3drs121908541
GWAS Ctlgrs121908541
Max Magnitude0
OMIM603945
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908541(G;G)
Alt rs121908541(G;G)
Reference rs121908541(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.183853340T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006316.4,