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rs179363873

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs179363873(A;A)
Make rs179363873(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position44901518
GeneITGB2
is asnp
is mentioned by
dbSNPrs179363873
dbSNP (classic)rs179363873
ClinGenrs179363873
ebirs179363873
HLIrs179363873
Exacrs179363873
Gnomadrs179363873
Varsomers179363873
LitVarrs179363873
Maprs179363873
PheGenIrs179363873
Biobankrs179363873
1000 genomesrs179363873
hgdprs179363873
ensemblrs179363873
geneviewrs179363873
scholarrs179363873
googlers179363873
pharmgkbrs179363873
gwascentralrs179363873
openSNPrs179363873
23andMers179363873
SNPshotrs179363873
SNPdbers179363873
MSV3drs179363873
GWAS Ctlgrs179363873
Max Magnitude0
ClinVar
Risk rs179363873(A;A)
Alt rs179363873(A;A)
Reference Rs179363873(G;G)
Significance Pathogenic
Disease not provided Leukocyte adhesion deficiency type 1
Variation info
Gene ITGB2
CLNDBN not provided Leukocyte adhesion deficiency type 1
Reversed 1
HGVS NC_000021.8:g.46321433C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059050.1, RCV000087123.1,