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rs137852609

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852609(C;T)
Make rs137852609(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44889376
GeneITGB2
is asnp
is mentioned by
dbSNPrs137852609
ebirs137852609
HLIrs137852609
Exacrs137852609
Varsomers137852609
Maprs137852609
PheGenIrs137852609
hapmaprs137852609
1000 genomesrs137852609
hgdprs137852609
ensemblrs137852609
gopubmedrs137852609
geneviewrs137852609
scholarrs137852609
googlers137852609
pharmgkbrs137852609
gwascentralrs137852609
openSNPrs137852609
23andMers137852609
23andMe allrs137852609
SNP Nexus

SNPshotrs137852609
SNPdbers137852609
MSV3drs137852609
GWAS Ctlgrs137852609
Max Magnitude0
OMIM600065
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852609(T;T)
Alt rs137852609(T;T)
Reference rs137852609(C;C)
Significance Pathogenic
Disease Leukocyte adhesion deficiency
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency
Reversed 1
HGVS NC_000021.8:g.46309291G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010066.2,