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rs843358

From SNPedia

Orientationminus
Stabilizedminus
Make rs843358(C;C)
Make rs843358(C;T)
Make rs843358(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184143455
GeneEIF2B5
is asnp
is mentioned by
dbSNPrs843358
dbSNP (classic)rs843358
ClinGenrs843358
ebirs843358
HLIrs843358
Exacrs843358
Gnomadrs843358
Varsomers843358
LitVarrs843358
Maprs843358
PheGenIrs843358
Biobankrs843358
1000 genomesrs843358
hgdprs843358
ensemblrs843358
geneviewrs843358
scholarrs843358
googlers843358
pharmgkbrs843358
gwascentralrs843358
openSNPrs843358
23andMers843358
SNPshotrs843358
SNPdbers843358
MSV3drs843358
GWAS Ctlgrs843358
GMAF0.3714
Max Magnitude0
? (C;C) (C;T) (T;T) 28






ClinVar
Risk rs843358(C;C)
Alt rs843358(C;C)
Reference rs843358(T;T)
Significance Other
Disease not specified Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B5
CLNDBN not specified Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000003.11:g.183861243A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000080353.8, RCV000313724.1,