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rs137852617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852617(C;C)
Make rs137852617(C;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44903452
GeneITGB2
is asnp
is mentioned by
dbSNPrs137852617
ebirs137852617
HLIrs137852617
Exacrs137852617
Varsomers137852617
Maprs137852617
PheGenIrs137852617
hapmaprs137852617
1000 genomesrs137852617
hgdprs137852617
ensemblrs137852617
gopubmedrs137852617
geneviewrs137852617
scholarrs137852617
googlers137852617
pharmgkbrs137852617
gwascentralrs137852617
openSNPrs137852617
23andMers137852617
23andMe allrs137852617
SNP Nexus

SNPshotrs137852617
SNPdbers137852617
MSV3drs137852617
GWAS Ctlgrs137852617
Max Magnitude0
OMIM600065
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852617(C;C)
Alt rs137852617(C;C)
Reference rs137852617(T;T)
Significance Pathogenic
Disease Leukocyte adhesion deficiency
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency
Reversed 1
HGVS NC_000021.8:g.46323367A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010078.2,