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rs137852611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852611(C;C)
Make rs137852611(C;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44903418
GeneITGB2
is asnp
is mentioned by
dbSNPrs137852611
ebirs137852611
HLIrs137852611
Exacrs137852611
Varsomers137852611
Maprs137852611
PheGenIrs137852611
hapmaprs137852611
1000 genomesrs137852611
hgdprs137852611
ensemblrs137852611
gopubmedrs137852611
geneviewrs137852611
scholarrs137852611
googlers137852611
pharmgkbrs137852611
gwascentralrs137852611
openSNPrs137852611
23andMers137852611
23andMe allrs137852611
SNP Nexus

SNPshotrs137852611
SNPdbers137852611
MSV3drs137852611
GWAS Ctlgrs137852611
Max Magnitude0
OMIM600065
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852611(C;C)
Alt rs137852611(C;C)
Reference rs137852611(T;T)
Significance Pathogenic
Disease Leukocyte adhesion deficiency
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency
Reversed 1
HGVS NC_000021.8:g.46323333A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010068.4,