rs6948707

This variant is located in the MAD1L1 gene.

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GWAS Catalog Trait Associations (2)

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

smoking status measurement

Liu M et al. “Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.” Nature Genetics 51(2):237-244 (2019)

Allele G

OR 0.02

p 4.0e-21

N 1,232,091

Large GWAS

European

smoking initiation

Xu K et al. “Genome-wide association study of smoking trajectory and meta-analysis of smoking status in 842,000 individuals.” Nature Communications 11(1):5302 (2020)

Allele G

OR 1.02

p 2.0e-11

N 842,717

Meta-analysisLarge GWAS

European

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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