rs33966350

This is a stop gained variant in the ENPEP gene.

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GWAS Catalog Trait Associations (10)

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

protein 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 1.59
p 2.0e-152
N 10,708
Large GWAS
European
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele A
OR 1.28
p 2.0e-23
N 2,721
Large GWAS
European

aspartate measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.93
p 9.0e-31
N 10,171
Large GWAS
multi-ancestry

level of glutamyl aminopeptidase 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 0.30
p 2.0e-25
N 47,745
Large GWAS
European

fibrinopeptide A, des-ala(1) measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.82
p 1.0e-21
N 8,816
Large GWAS
multi-ancestry

hypertension

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 0.15
p 3.0e-12
N 394,626
Large GWAS
European

X-14189--leucylalanine measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.65
p 6.0e-12
N 8,621
Large GWAS
multi-ancestry

systolic blood pressure

Warren HR et al. “Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.” Nature Genetics 49(3):403-415 (2017)
Allele A
OR 1.66
p 2.0e-11
N 140,882
Large GWAS
European
Teixeira SK et al. “Assessing the predictive efficacy of European-based systolic blood pressure polygenic risk scores in diverse Brazilian cohorts.” Scientific Reports 14(1):28123 (2024)
Allele A
OR 1.55
p 1.0e-9
N 286,581
Large GWAS
European

glycine measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.16
p 4.0e-11
N 90,223
Large GWAS
multi-ancestry

Calcium channel blocker use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele A
OR 0.22
p 5.0e-10
N 204,378
Major Consortium StudyLarge GWAS
European

fibrinopeptide A measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 1.04
p 7.0e-15
N 2,432
Large GWAS
multi-ancestry

About ENPEP

The ENPEP gene encodes glutamyl aminopeptidase, a type II integral membrane protein with an extracellular zinc-binding domain. This protein can upregulate blood pressure by cleaving the N-terminal aspartate from angiotensin II, and can regulate blood vessel formation and enhance tumorigenesis in some tissues. Along with ANPEP and DPP4, ENPEP was found to be a candidate co-receptor for the coronavirus SARS-CoV-2, which causes COVID-19. [provided by RefSeq, Apr 2020]

View all ENPEP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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