rs9303525

This is a regulatory region 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.

intracranial volume measurement

Ikram MA et al. “Common variants at 6q22 and 17q21 are associated with intracranial volume.” Nature Genetics 44(5):539-44 (2012)

Allele G

OR 14.90

p 8.0e-15

N 8,175

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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