rs2236757
This variant is located in the IFNAR2 gene.
▶ClinVar annotation
Mortality risk in patients with severe coronavirus disease (COVID-19); not specified; Immunodeficiency 45
View on ClinVar →▶Research that mentions this SNP (1)
▶Variants in interferon‐alpha pathway genes and response to pegylated interferon‐Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long‐term treatment against cirrhosis trial†‡AssociationN=712Tania Mara Welzel et al.(2009)· Hepatology
In the HALT-C trial of 581 European American patients with advanced chronic hepatitis C, genetic variants in the interferon-alpha pathway were associated with sustained virological response (SVR) to pegylated interferon-alpha-2a plus ribavirin therapy. Key associations included IFNAR1 IVS1-22G (aOR=0.57, p=0.02), IFNAR2 Ex2-33C (aOR=2.09, p=0.02), JAK1 IVS22+112T (aOR=1.66, p=0.04), and ADAR Ex9+14A (aOR=1.67, p=0.03). The TYK2 -2256A promoter variant showed a borderline association in European Americans (OR=1.51, p=0.05) but a strong association in African American patients (p=0.006).
About IFNAR2
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. Mutations in this gene are associated with Immunodeficiency 45. [provided by RefSeq, Jul 2020]
View all IFNAR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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