rs503464
This is a regulatory region variant variant in the CHRNA5 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.
chronic obstructive pulmonary disease
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele A
OR 0.85
p 8.0e-11
N 204,907
Large GWAS
East Asian
forced expiratory volume, response to bronchodilator
Lutz SM et al. “A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.” Bmc Genetics 16:138 (2015)
Allele A
OR —
β 0.068
p 1.0e-10
N 13,532
Large GWAS
multi-ancestry
FEV/FVC ratio, response to bronchodilator
Lutz SM et al. “A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.” Bmc Genetics 16:138 (2015)
Allele A
OR —
β 0.013
p 6.0e-9
N 13,532
Large GWAS
multi-ancestry
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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