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rs863225051

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGA;GGA) 0 common in clinvar
Make rs863225051(-;-)
Make rs863225051(-;GGA)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123624799
GeneEIF2B1
is asnp
is mentioned by
dbSNPrs863225051
dbSNP (classic)rs863225051
ClinGenrs863225051
ebirs863225051
HLIrs863225051
Exacrs863225051
Gnomadrs863225051
Varsomers863225051
LitVarrs863225051
Maprs863225051
PheGenIrs863225051
Biobankrs863225051
1000 genomesrs863225051
hgdprs863225051
ensemblrs863225051
geneviewrs863225051
scholarrs863225051
googlers863225051
pharmgkbrs863225051
gwascentralrs863225051
openSNPrs863225051
23andMers863225051
SNPshotrs863225051
SNPdbers863225051
MSV3drs863225051
GWAS Ctlgrs863225051
Max Magnitude0
ClinVar
Risk rs863225051(-;-)
Alt rs863225051(-;-)
Reference Rs863225051(GGA;GGA)
Significance Pathogenic
Disease Leukoencephalopathy with vanishing white matter
Variation info
Gene EIF2B1
CLNDBN Leukoencephalopathy with vanishing white matter
Reversed 1
HGVS NC_000012.11:g.124109346_124109348delTCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000201218.2,