rs61751507

This is a variant in the CPN1 gene that changes a glycine to an aspartate.

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GWAS Catalog Trait Associations (10)

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

apolipoprotein L1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 1.330
p 4.0e-127
N 3,301
Large GWAS
European

protocadherin alpha-7 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.89
p 2.0e-52
N 3,301
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 T
OR 0.39
p 9.0e-32
N 10,708
Large GWAS
European

calpastatin measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele T
OR 0.61
p 6.0e-41
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.670
p 7.0e-30
N 3,301
Large GWAS
European

neutrophil collagenase level

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.780
p 3.0e-40
N 3,301
Large GWAS
European

granulysin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.16
p 1.0e-38
N 47,745
Large GWAS
European
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele T
OR 0.30
p 4.0e-11
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

calcium/calmodulin-dependent protein kinase type 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.65
p 2.0e-28
N 3,301
Large GWAS
European

cell growth regulator with EF hand domain protein 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.540
p 5.0e-20
N 3,301
Large GWAS
European

kallikrein-15 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.08
p 1.0e-13
N 47,745
Large GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.34
p 2.0e-13
N 5,365
Large GWAS
European

creatine kinase measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.09
p 3.0e-15
N 82,557
Major Consortium StudyLarge GWAS
European
Kristjansson RP et al. “Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.” Nature Communications 7:10572 (2016)
Allele C
OR —
β 0.091
p 5.0e-11
N 63,159
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
5 submitters4 publications

Anaphylotoxin inactivator deficiency (CPND); CPN1-related disorder; not specified

View on ClinVar →

About CPN1

Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]

View all CPN1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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