rs17486278

This is a regulatory region variant variant in the CHRNA5 gene.

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GWAS Catalog Trait Associations (20)

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

respiratory system cancer

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.20
p 8.0e-62
N 627,607
Major Consortium StudyLarge GWAS
multi-ancestry

emphysema

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.19
p 4.0e-46
N 616,612
Major Consortium StudyLarge GWAS
multi-ancestry

chronic bronchitis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.14
p 4.0e-45
N 610,620
Major Consortium StudyLarge GWAS
multi-ancestry

chronic obstructive pulmonary disease

Hobbs BD et al. “Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.” Nature Genetics 49(3):426-432 (2017)
Allele C
OR 1.18
p 2.0e-28
N 58,918
Large GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.10
p 1.0e-14
N 112,489
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

lung cancer

Gorman BR et al. “Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk.” Nature Communications 15(1):8629 (2024)
Allele C
OR 1.25
p 2.0e-17
N 64,550
Large GWAS
African unspecified
Byun J et al. “Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci.” Human Molecular Genetics 34(14):1227-1237 (2025)
Allele C
OR 1.34
p 1.0e-12
N 6,531
Large GWAS
African American or Afro-Caribbean

lung carcinoma

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.15
p 3.0e-17
N 671,529
Large GWAS
multi-ancestry
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 C
OR —
p 5.0e-12
N 6,490
Large GWAS
African American or Afro-Caribbean

peripheral vascular disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.06
p 3.0e-16
N 599,134
Major Consortium StudyLarge GWAS
multi-ancestry

smoking behavior trait

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.03
p 3.0e-16
N 188,898
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Risk gene variants for nicotine dependence in the CHRNA5–CHRNA3–CHRNB4 cluster are associated with cognitive performance
AssociationN=492Georg Winterer et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This population-based study examined natural selection on nicotinic receptor gene clusters (CHRNB3-A6 on chromosome 8 and CHRNA5-A3-B4 on chromosome 15) using 1000 Genomes data from three populations. Using Tajima's D and integrated haplotype score (iHS) tests, the authors found strong evidence for positive selection in the CHRNB3-A6 region and moderate evidence in CHRNA5-A3-B4. These regions harbor variants previously associated with nicotine dependence (rs16969968, rs1451240) and cocaine dependence. To understand the target of selection, the authors tested variants in COGA subjects (N=492) for association with cognitive phenotypes (WAIS tests) and found one significant association: rs7017612 with WAIS Digit Symbol score (β=0.43, p=0.003), suggesting memory and learning may be the driving force behind selection.

Traits studied:Alcohol dependenceCocaine dependenceCognitive functionLearningMemoryNicotine dependenceProcessing speed
PubMedDOIMetascience Observatory

About CHRNA5

The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]

View all CHRNA5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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