rs1819040

This is a intron variant variant in the KANSL1 gene.

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GWAS Catalog Trait Associations (2)

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

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 A

OR 0.88

p 3.0e-11

N 2,641,520

Large GWAS

European, NR

COVID-19

“Mapping the human genetic architecture of COVID-19.” Nature 600(7889):472-477 (2021)

Allele A

OR 0.88

p 2.0e-10

N 2,084,823

Large GWAS

multi-ancestry

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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