rs5068

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

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GWAS Catalog Trait Associations (2)

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

systolic blood pressure

Udosen B et al. “Meta-Analysis and Multivariate GWAS Analyses in 80,950 Individuals of African Ancestry Identify Novel Variants Associated with Blood Pressure Traits.” International Journal of Molecular Sciences 24(3) (2023)

Allele A

OR 0.10

p 3.0e-10

N 80,950

Meta-analysisLarge GWAS

African unspecified

diastolic blood pressure

Allele A

OR 0.10

p 2.0e-8

N 80,950

Meta-analysisLarge GWAS

African unspecified

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; Melanoma; Cholangiocarcinoma; Nonpapillary renal cell carcinoma; Acute myeloid leukemia

View on ClinVar →

About NPPA

The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1. [provided by RefSeq, Oct 2015]