rs2077551

This is a intron variant variant in the KANSL1 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

Allen RJ et al. “Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis.” Thorax 77(8):829-833 (2022)

Allele T

OR 1.42

p 2.0e-20

N 24,589

Large GWAS

European

Allen RJ et al. “Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis.” American Journal of Respiratory and Critical Care Medicine 201(5):564-574 (2020)

Allele T

OR 1.41

p 3.0e-16

N 11,259

Large GWAS

European

About KANSL1

This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The encoded protein has been implicated in a variety of cellular processes including enhancer regulation, cell proliferation, and mitosis. Mutations in this gene are associated with Koolen-de Vries Syndrome. [provided by RefSeq, May 2022]

View all KANSL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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