rs2045517
This is a intron variant variant in the FAM13A gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 T
OR —
β 0.012
p 6.0e-12
N 13,532
Large GWAS
multi-ancestry
FEV/FVC ratio
Wain LV et al. “Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.” Nature Genetics 49(3):416-425 (2017)
Allele T
OR 0.05
p 1.0e-11
N 48,943
Large GWAS
European
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 T
OR —
β 0.057
p 1.0e-10
N 13,532
Large GWAS
multi-ancestry
chronic obstructive pulmonary disease
Joo J et al. “Gene-Based Analysis Reveals Sex-Specific Genetic Risk Factors of COPD.” Amia ... Annual Symposium Proceedings. Amia Symposium 2021:601-610 (2021)
Allele T
OR 1.09
p 9.0e-9
N 135,025
Large GWAS
European
About FAM13A
Predicted to enable GTPase activator activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. Implicated in chronic obstructive pulmonary disease. [provided by Alliance of Genome Resources, Jul 2025]
View all FAM13A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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