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rs137852613

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852613(A;G)
Make rs137852613(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position44895002
GeneITGB2
is asnp
is mentioned by
dbSNPrs137852613
ebirs137852613
HLIrs137852613
Exacrs137852613
Varsomers137852613
Maprs137852613
PheGenIrs137852613
hapmaprs137852613
1000 genomesrs137852613
hgdprs137852613
ensemblrs137852613
gopubmedrs137852613
geneviewrs137852613
scholarrs137852613
googlers137852613
pharmgkbrs137852613
gwascentralrs137852613
openSNPrs137852613
23andMers137852613
23andMe allrs137852613
SNP Nexus

SNPshotrs137852613
SNPdbers137852613
MSV3drs137852613
GWAS Ctlgrs137852613
Max Magnitude0
OMIM600065
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852613(G;G)
Alt rs137852613(G;G)
Reference rs137852613(A;A)
Significance Pathogenic
Disease Leukocyte adhesion deficiency
Variation info
Gene ITGB2
CLNDBN Leukocyte adhesion deficiency
Reversed 1
HGVS NC_000021.8:g.46314917T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010073.2,