rs11764779

This is a regulatory region variant variant in the MAD1L1 gene.

GWAS Catalog Trait Associations (1)

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

alcohol consumption quality

Saunders GRB et al. Genetic diversity fuels gene discovery for tobacco and alcohol use. Nature 612(7941):720-724 (2022)
Allele G
OR 0.01
p 6.0e-14
N 2,965,643
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

About MAD1L1

MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

View all MAD1L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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