rs11846959

This is a regulatory region variant variant in the SERPINA1 gene.

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GWAS Catalog Trait Associations (13)

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

39S ribosomal protein L33, mitochondrial measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.58
p 7.0e-109
N 3,301
Large GWAS
European

PH and SEC7 domain-containing protein 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.20
p 2.0e-39
N 10,708
Large GWAS
European

level of CCN family member 1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.07
p 2.0e-31
N 47,745
Large GWAS
European

phospholipids:total lipids ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 2.0e-25
N 450,015
Large GWAS
multi-ancestry

phospholipids:total lipids ratio, blood VLDL cholesterol amount, chylomicron amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.05
p 5.0e-24
N 126,671
Large GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.01
p 9.0e-14
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

cholesterol in very small VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 1.0e-12
N 136,016
Large GWAS
multi-ancestry

contactin-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 6.0e-12
N 47,745
Large GWAS
European

esterified cholesterol measurement, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 2.0e-11
N 136,016
Large GWAS
multi-ancestry

About SERPINA1

The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]

View all SERPINA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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