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rs137852606

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852606(C;G)
Make rs137852606(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position225403445
GeneLBR
is asnp
is mentioned by
dbSNPrs137852606
dbSNP (classic)rs137852606
ClinGenrs137852606
ebirs137852606
HLIrs137852606
Exacrs137852606
Gnomadrs137852606
Varsomers137852606
LitVarrs137852606
Maprs137852606
PheGenIrs137852606
Biobankrs137852606
1000 genomesrs137852606
hgdprs137852606
ensemblrs137852606
geneviewrs137852606
scholarrs137852606
googlers137852606
pharmgkbrs137852606
gwascentralrs137852606
openSNPrs137852606
23andMers137852606
SNPshotrs137852606
SNPdbers137852606
MSV3drs137852606
GWAS Ctlgrs137852606
Max Magnitude0
OMIM600024
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852606(G;G)
Alt rs137852606(G;G)
Reference Rs137852606(C;C)
Significance Pathogenic
Disease Pelger-Huët anomaly
Variation info
Gene LBR
CLNDBN Pelger-Huët anomaly
Reversed 1
HGVS NC_000001.10:g.225591147G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010140.2,