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rs119474039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119474039(C;C)
Make rs119474039(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position44875634
GeneEIF2B3
is asnp
is mentioned by
dbSNPrs119474039
ebirs119474039
HLIrs119474039
Exacrs119474039
Varsomers119474039
Maprs119474039
PheGenIrs119474039
hapmaprs119474039
1000 genomesrs119474039
hgdprs119474039
ensemblrs119474039
gopubmedrs119474039
geneviewrs119474039
scholarrs119474039
googlers119474039
pharmgkbrs119474039
gwascentralrs119474039
openSNPrs119474039
23andMers119474039
23andMe allrs119474039
SNP Nexus

SNPshotrs119474039
SNPdbers119474039
MSV3drs119474039
GWAS Ctlgrs119474039
Max Magnitude0
OMIM606273
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119474039(C;C)
Alt rs119474039(C;C)
Reference rs119474039(T;T)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B3
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000001.10:g.45341306A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004690.2,