rs6074813

This variant is located in the SIRPB1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

systemic lupus erythematosus

Wang YF et al. “Identification of 38 novel loci for systemic lupus erythematosus and genetic heterogeneity between ancestral groups.” Nature Communications 12(1):772 (2021)

Allele T

OR 1.12

p 3.0e-8

N 25,268

Large GWAS

multi-ancestry

About SIRPB1

The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

View all SIRPB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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