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rs137852615

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852615(A;A)
Make rs137852615(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position44903482
GeneITGB2
is asnp
is mentioned by
dbSNPrs137852615
ebirs137852615
HLIrs137852615
Exacrs137852615
Varsomers137852615
Maprs137852615
PheGenIrs137852615
hapmaprs137852615
1000 genomesrs137852615
hgdprs137852615
ensemblrs137852615
gopubmedrs137852615
geneviewrs137852615
scholarrs137852615
googlers137852615
pharmgkbrs137852615
gwascentralrs137852615
openSNPrs137852615
23andMers137852615
23andMe allrs137852615
SNP Nexus

SNPshotrs137852615
SNPdbers137852615
MSV3drs137852615
GWAS Ctlgrs137852615
Max Magnitude0
OMIM600065
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852615(A,T;A,T)
Alt rs137852615(A,T;A,T)
Reference rs137852615(G;G)
Significance Pathogenic
Disease not provided Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency
Variation info
Gene ITGB2
CLNDBN not provided Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency
Reversed 1
HGVS NC_000021.8:g.46323397C>A; NC_000021.8:g.46323397C>T
CLNSRC UniProtKB (variants) OMIM Allelic Variant
CLNACC RCV000059049.1, RCV000087118.1, RCV000010075.2,


[PMID 20549317] Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.