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rs2070947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2070947(C;C)
Make rs2070947(C;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position44920928
GeneITGB2, ITGB2-AS1
is asnp
is mentioned by
dbSNPrs2070947
dbSNP (classic)rs2070947
ClinGenrs2070947
ebirs2070947
HLIrs2070947
Exacrs2070947
Gnomadrs2070947
Varsomers2070947
LitVarrs2070947
Maprs2070947
PheGenIrs2070947
Biobankrs2070947
1000 genomesrs2070947
hgdprs2070947
ensemblrs2070947
geneviewrs2070947
scholarrs2070947
googlers2070947
pharmgkbrs2070947
gwascentralrs2070947
openSNPrs2070947
23andMers2070947
SNPshotrs2070947
SNPdbers2070947
MSV3drs2070947
GWAS Ctlgrs2070947
GMAF0.2002
Max Magnitude0
? (C;C) (C;T) (T;T) 28




[PMID 23388428] Association study of integrins beta 1 and beta 2 gene polymorphism and papillary thyroid cancer


ClinVar
Risk rs2070947(C;C)
Alt rs2070947(C;C)
Reference Rs2070947(T;T)
Significance Non-pathogenic
Disease Leukocyte adhesion deficiency
Variation info
Gene ITGB2 ITGB2-AS1
CLNDBN Leukocyte adhesion deficiency
Reversed 1
HGVS NC_000021.8:g.46340843A>G
CLNSRC
CLNACC RCV000285974.1,