rs138544659

This is a intron variant variant in the CHRNA3 gene.

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GWAS Catalog Trait Associations (4)

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

emphysema pattern measurement

Boueiz A et al. “Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution.” American Journal of Respiratory and Critical Care Medicine 195(6):757-771 (2017)
Allele T
OR 0.12
p 1.0e-14
N 11,532
Large GWAS
multi-ancestry

lung carcinoma

Betti MJ et al. “Genetic analysis in African ancestry populations reveals genetic contributors to lung cancer susceptibility.” American Journal of Human Genetics 112(9):2102-2114 (2025)
Allele G
OR 1.35
p 5.0e-8
N 4,877
Large GWAS
African American or Afro-Caribbean

About CHRNA3

This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

View all CHRNA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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