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rs137852612

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852612(A;A)
Make rs137852612(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position44901728
GeneITGB2
is asnp
is mentioned by
dbSNPrs137852612
ebirs137852612
HLIrs137852612
Exacrs137852612
Varsomers137852612
Maprs137852612
PheGenIrs137852612
hapmaprs137852612
1000 genomesrs137852612
hgdprs137852612
ensemblrs137852612
gopubmedrs137852612
geneviewrs137852612
scholarrs137852612
googlers137852612
pharmgkbrs137852612
gwascentralrs137852612
openSNPrs137852612
23andMers137852612
23andMe allrs137852612
SNP Nexus

SNPshotrs137852612
SNPdbers137852612
MSV3drs137852612
GWAS Ctlgrs137852612
Max Magnitude0
OMIM600065
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852612(A;A)
Alt rs137852612(A;A)
Reference rs137852612(G;G)
Significance Pathogenic
Disease Leukocyte adhesion deficiency
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency
Reversed 1
HGVS NC_000021.8:g.46321643C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010069.2,