rs6460944
This is a upstream gene variant variant in the MAD1L1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
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 T
OR 0.01
p 2.0e-27
N 1,359,002
Large GWAS
European
social inhibition quality, attention deficit hyperactivity disorder, substance abuse
Karlsson Linnér R et al. “Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction.” Nature Neuroscience 24(10):1367-1376 (2021)
Allele C
OR 0.01
p 2.0e-23
N 2,776,348
Large GWAS
European
smoking initiation
Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele T
OR 0.02
p 2.0e-68
N 2,669,029
Large 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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