rs202102042

This is a variant in the NPPA gene that changes a arginine to an glutamine.

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GWAS Catalog Trait Associations (1)

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

pulse pressure measurement

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele T
OR 3.20
p 2.0e-8
N 318,891
Large GWAS
multi-ancestry
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ClinVar annotation

Pathogenic★☆☆☆
3 submitters3 publications

Atrial fibrillation, familial, 6 (ATFB6); Atrial standstill 2 (ATRST2); not specified

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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