rs5743890

This is a regulatory region variant variant in the TOLLIP gene.

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GWAS Catalog Trait Associations (1)

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

idiopathic pulmonary fibrosis

Noth I et al. “Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.” The Lancet. Respiratory Medicine 1(4):309-317 (2013)

Allele A

OR 1.64

p 3.0e-11

N 1,084

Large GWAS

European

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ClinVar annotation

Uncertain Significance

1 submitter

Chronic obstructive pulmonary disease; Interstitial lung disease 2 (ILD2)

View on ClinVar →

About TOLLIP

This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

View all TOLLIP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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