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rs137852614

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852614(C;T)
Make rs137852614(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44901700
GeneITGB2
is asnp
is mentioned by
dbSNPrs137852614
ebirs137852614
HLIrs137852614
Exacrs137852614
Varsomers137852614
Maprs137852614
PheGenIrs137852614
hapmaprs137852614
1000 genomesrs137852614
hgdprs137852614
ensemblrs137852614
gopubmedrs137852614
geneviewrs137852614
scholarrs137852614
googlers137852614
pharmgkbrs137852614
gwascentralrs137852614
openSNPrs137852614
23andMers137852614
23andMe allrs137852614
SNP Nexus

SNPshotrs137852614
SNPdbers137852614
MSV3drs137852614
GWAS Ctlgrs137852614
Max Magnitude0
OMIM600065
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852614(T;T)
Alt rs137852614(T;T)
Reference rs137852614(C;C)
Significance Pathogenic
Disease Leukocyte adhesion deficiency
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency
Reversed 1
HGVS NC_000021.8:g.46321615G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010074.4,