rs1980057

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (3)

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

FEV/FVC ratio, pulmonary function measurement

Hancock DB et al. “Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.” Nature Genetics 42(1):45-52 (2010)

Allele T

OR 0.52

p 3.0e-20

N 20,890

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 0.017

p 1.0e-17

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 0.071

p 1.0e-13

N 13,532

Large GWAS

multi-ancestry

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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