Annotation Detail

Information
Associated Genes
ITGAM
Associated Variants
ITGAM p.Arg77His (p.R77H) ( ENST00000648685.1, ENST00000544665.9 )
rs3093030
ITGAM p.Arg77His (p.R77H) ( ENST00000544665.9, ENST00000648685.1 )
rs3093030
Associated Disease
Lupus Erythematosus, Systemic
Source Database
DisGeNET
Description
The A-allele of ICAM1-ICAM4-ICAM5 rs3093030, associated with elevated plasma levels of soluble ICAM1, and the A-allele of ITGAM rs1143679 showed the strongest association with increased SLE susceptibility in each of the ancestry populations and the trans-ancestry meta-analysis (OR(meta)=1.16, 95% CI 1.11 to 1.22; p=4.88×10(-10) and OR(meta)=1.67, 95% CI 1.55 to 1.79; p=3.32×10(-46), respectively).
Pubmed
22523428
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.27872910640394
Year of publication
2012
Drugs