rs1303

This is a variant in the SERPINA1 gene that changes a glutamate to an aspartate.

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GWAS Catalog Trait Associations (16)

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

tartrate-resistant acid phosphatase type 5 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.09
p 3.0e-56
N 47,745
Large GWAS
European

PH and SEC7 domain-containing protein 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.36
p 5.0e-39
N 3,301
Large GWAS
European

asporin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.07
p 3.0e-25
N 47,745
Large GWAS
European
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele G
OR 0.12
p 6.0e-17
N 10,708
Large GWAS
European

cholesteryl esters to total lipids in chylomicrons and extremely large VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 1.0e-24
N 450,015
Large GWAS
multi-ancestry

free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 9.0e-19
N 136,016
Large GWAS
multi-ancestry

polyunsaturated fatty acids to total fatty acids percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 4.0e-17
N 450,015
Large GWAS
multi-ancestry

free cholesterol:total lipids ratio, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 7.0e-17
N 136,016
Large GWAS
multi-ancestry

saturated fatty acids to total fatty acids percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 5.0e-13
N 450,015
Large GWAS
multi-ancestry

phospholipids:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 6.0e-13
N 136,016
Large GWAS
multi-ancestry

follistatin-related protein 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 G
OR 0.05
p 7.0e-13
N 47,745
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
13 submitters5 publications

Alpha-1-antitrypsin deficiency (A1ATD); Inborn genetic diseases; PI M3; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: α1-antitrypsin deficiency variant Pduarte
ReviewHildesheim J. et al.(1993)· Human Mutation

Alpha-1 Antitrypsin Deficiency (AATD) is caused by over 120 mutations in SERPINA1, with the Z allele (p.Glu342Lys) and S allele (p.Glu264Val) being major pathogenic variants. Large-scale genomic sequencing has revealed >500 rare SERPINA1 variants, many with loss-of-function or gain-of-function effects causing varied clinical manifestations including pulmonary emphysema and hepatic disease. This review synthesizes the SERPINA1 mutation spectrum, their geographic distribution, population history, and pathophysiological mechanisms to guide comprehensive AATD diagnosis beyond common variants.

Traits studied:ANCA-associated vasculitisAlpha-1 Antitrypsin DeficiencyBronchiectasisChronic Obstructive Pulmonary DiseaseEmphysemaHepatic diseaseLiver diseasePanniculitis
PubMedDOIMetascience Observatory

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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