rs2532307

This variant is located 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.

Lewy body dementia

Guo P et al. “Pinpointing novel risk loci for Lewy body dementia and the shared genetic etiology with Alzheimer's disease and Parkinson's disease: a large-scale multi-trait association analysis.” Bmc Medicine 20(1):214 (2022)

Allele A

OR 10.58

p 4.0e-26

N 6,618

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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