rs7671167

This is a intron variant variant in the FAM13A gene.

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GWAS Catalog Trait Associations (3)

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

pulmonary surfactant-associated protein d measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele T

OR 0.10

p 1.0e-12

N 10,708

Large GWAS

European

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 0.011

p 2.0e-10

N 13,532

Large GWAS

multi-ancestry

BMI-adjusted waist-hip ratio

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)

Allele C

OR 0.02

p 3.0e-9

N 219,872

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Association★☆☆☆

2 submitters

Chronic obstructive pulmonary disease

View on ClinVar →

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Research that mentions this SNP (1)

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Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility

AssociationN=5,296Mateusz Siedlinski et al.(2013)· Human Genetics

This mediation analysis study of 3,424 COPD cases and 1,872 controls examined direct and indirect genetic effects of known COPD susceptibility loci. The AGPHD1/CHRNA3 variants (rs1051730, rs8034191) showed ~30% of their total effect on COPD mediated by pack-years smoking (OR 1.256-1.305), while IREB2 (rs13180) showed no significant smoking-mediated effect, suggesting independent pathways. FAM13A (rs7671167) and HHIP (rs13118928) demonstrated direct effects on COPD independent of smoking.

Traits studied:Chronic obstructive pulmonary disease (COPD)Number of cigarettes per dayPack-years smokedSmoking intensity

PubMed DOI Metascience Observatory

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]