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rs863223326

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGGT;TGGT) 0 common in clinvar
Make rs863223326(-;-)
Make rs863223326(-;TGGT)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position225424041
GeneLBR
is asnp
is mentioned by
dbSNPrs863223326
dbSNP (classic)rs863223326
ClinGenrs863223326
ebirs863223326
HLIrs863223326
Exacrs863223326
Gnomadrs863223326
Varsomers863223326
LitVarrs863223326
Maprs863223326
PheGenIrs863223326
Biobankrs863223326
1000 genomesrs863223326
hgdprs863223326
ensemblrs863223326
geneviewrs863223326
scholarrs863223326
googlers863223326
pharmgkbrs863223326
gwascentralrs863223326
openSNPrs863223326
23andMers863223326
SNPshotrs863223326
SNPdbers863223326
MSV3drs863223326
GWAS Ctlgrs863223326
Max Magnitude0
ClinVar
Risk rs863223326(-;-)
Alt rs863223326(-;-)
Reference Rs863223326(TGGT;TGGT)
Significance Pathogenic
Disease Greenberg dysplasia Pelger-Huët anomaly
Variation info
Gene LBR
CLNDBN Greenberg dysplasia Pelger-Huët anomaly
Reversed 1
HGVS NC_000001.10:g.225611743_225611746delACCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000087265.6, RCV000087266.6,