rs4416442
This is a intron variant variant in the FAM13A 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.
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 0.013
p 1.0e-12
N 13,532
Large GWAS
multi-ancestry
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 0.062
p 1.0e-12
N 13,532
Large GWAS
multi-ancestry
chronic obstructive pulmonary disease
Cho MH et al. “Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.” The Lancet. Respiratory Medicine 2(3):214-25 (2014)
Allele C
OR 1.28
p 1.0e-14
N 12,337
Meta-analysisLarge GWAS
multi-ancestry
Mathur R et al. “GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing.” Communications Biology 5(1):806 (2022)
Allele C
OR 1.36
p 3.0e-10
N 10,461
Large GWAS
multi-ancestry
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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