rs198389

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

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GWAS Catalog Trait Associations (6)

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

natriuretic peptides B level

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 0.16
p 5.0e-174
N 47,745
Large GWAS
European

protein measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele A
OR 0.23
p 3.0e-77
N 21,758
Large GWAS
European

N-terminal pro-BNP measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.29
p 4.0e-31
N 3,301
Large GWAS
European

cardiovascular disease biomarker measurement

Johansson Å et al. “Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome.” Human Molecular Genetics 25(7):1447-56 (2016)
Allele G
OR 0.15
p 1.0e-15
N 3,740
Large GWAS
multi-ancestry

BNP measurement

Musani SK et al. “Genome-wide association analysis of plasma B-type natriuretic peptide in blacks: the Jackson Heart Study.” Circulation. Cardiovascular Genetics 8(1):122-30 (2015)
Allele G
OR 0.18
p 1.0e-9
N 2,790
Large GWAS
African unspecified

About NPPB

This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. The presence of myocardial injury is a significant predictor of mortality in hospitalized coronavirus disease 2019 (COVID-19) patients, and there is evidence of increased levels of natriuretic peptide B in hospitalized non-survivor COVID-19 patients. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq, Aug 2020]

View all NPPB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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