rs1630736

This is a intron variant variant in the EDN1 gene.

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GWAS Catalog Trait Associations (4)

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

systolic blood pressure

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele T

OR 0.01

p 3.0e-14

N 928,679

Large GWAS

multi-ancestry

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele T

OR 0.17

p 1.0e-11

N 1,028,980

Large GWAS

multi-ancestry

pulse pressure measurement

Evangelou E et al. “Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.” Nature Genetics 50(10):1412-1425 (2018)

Allele T

OR 0.13

p 7.0e-14

N 757,601

Large GWAS

European

Allele T

OR 0.13

p 2.0e-13

N 1,028,980

Large GWAS

multi-ancestry

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 0.13

p 4.0e-10

N 459,777

Large GWAS

multi-ancestry

aortic measurement

Francis CM et al. “Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.” Nature Communications 13(1):4505 (2022)

Allele C

OR 8.84

p 2.0e-13

N 32,590

Large GWAS

European

Tcheandjieu C et al. “High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease.” Nature Genetics 54(6):772-782 (2022)

Allele C

OR —

β 0.050

p 5.0e-13

N 32,215

Large GWAS

European

Benjamins JW et al. “Genomic insights in ascending aortic size and distensibility.” Ebiomedicine 75:103783 (2022)

Allele C

OR 0.05

p 2.0e-12

N 31,908

Large GWAS

ascending aorta diameter

Pirruccello JP et al. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)

Allele C

OR 0.05

p 8.0e-14

N 38,372

Large GWAS

European, NR

Pirruccello JP et al. “Deep learning enables genetic analysis of the human thoracic aorta.” Nature Genetics 54(1):40-51 (2022)

Allele C

OR 0.05

p 6.0e-14

N 33,637

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

About EDN1

This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

rs1630736

GWAS Catalog Trait Associations (4)

systolic blood pressure

pulse pressure measurement

aortic measurement

ascending aorta diameter

ClinVar annotation

About EDN1

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