rs1012943

This variant is located in the IFNAR1 gene.

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GWAS Catalog Trait Associations (1)

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

interferon alpha/beta receptor 1 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)

Allele G

OR 0.25

p 8.0e-13

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

About IFNAR1

The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family and functions as an antiviral factor. [provided by RefSeq, Jul 2020]

View all IFNAR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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