rs13050728

This is a upstream gene variant variant in the IFNAR2 gene.

▶

GWAS Catalog Trait Associations (3)

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

COVID-19

“A first update on mapping the human genetic architecture of COVID-19.” Nature 608(7921):E1-E10 (2022)
Allele C
OR 0.90
p 5.0e-23
N 2,861,299
Large GWAS
multi-ancestry
“Mapping the human genetic architecture of COVID-19.” Nature 600(7889):472-477 (2021)
Allele C
OR 0.82
p 1.0e-16
N 1,489,959
Large GWAS
multi-ancestry
Pairo-Castineira E et al. “Genetic mechanisms of critical illness in COVID-19.” Nature 591(7848):92-98 (2021)
Allele C
OR 1.20
p 5.0e-12
N 1,170,871
Large GWAS
multi-ancestry

respiratory failure, COVID-19

Degenhardt F et al. “Detailed stratified GWAS analysis for severe COVID-19 in four European populations.” Human Molecular Genetics 31(23):3945-3966 (2022)
Allele T
OR 1.16
p 2.0e-19
N 2,641,520
Large GWAS
European, NR

COVID-19, osteoarthritis

Huang YX et al. “A shared genetic contribution to osteoarthritis and COVID-19 outcomes: a large-scale genome-wide cross-trait analysis.” Frontiers in Immunology 14:1184958 (2023)
Allele C
OR 0.01
p 3.0e-16
N 1,703,231
Large GWAS
European

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…