rs12463074

This is a intron variant variant in the MAU2 gene.

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GWAS Catalog Trait Associations (1)

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

substance-related disorder

Lai D et al. “Genome-wide meta-analyses of cross substance use disorders in diverse populations.” Molecular Psychiatry 31(3):1619-1633 (2026)

Allele A

OR 5.49

p 4.0e-8

N 1,517,369

Large GWAS

multi-ancestry

About MAU2

Enables cohesin loader activity. Involved in maintenance of mitotic sister chromatid cohesion. Located in chromatin and nuclear body. Part of Scc2-Scc4 cohesin loading complex. [provided by Alliance of Genome Resources, Jul 2025]

View all MAU2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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