rs28929470

This is a variant in the SERPINA1 gene that changes a arginine to an cysteine.

▶

GWAS Catalog Trait Associations (8)

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

integral membrane protein 2A 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 1.01
p 8.0e-106
N 47,745
Large GWAS
European

serum albumin amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.18
p 5.0e-21
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.19
p 6.0e-9
N 115,064
Large GWAS
European

kallikrein-4 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 0.36
p 2.0e-19
N 47,745
Large GWAS
European

calcium 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 0.13
p 1.0e-16
N 394,642
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.14
p 2.0e-13
N 325,659
Major Consortium StudyLarge GWAS
multi-ancestry

total blood protein 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 0.10
p 2.0e-12
N 394,642
Large GWAS
European

blood protein amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.12
p 2.0e-10
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry

sex hormone-binding globulin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.15
p 2.0e-15
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry
Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele A
OR 0.05
p 4.0e-9
N 188,908
Large GWAS
European
▶

ClinVar annotation

Pathogenic★☆☆☆
15 submitters13 publications

Alpha-1-antitrypsin deficiency (A1ATD); Inborn genetic diseases; PI F; SERPINA1-related disorder; not specified

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…