rs2493136

This variant is located in the AGT gene.

GWAS Catalog Trait Associations (4)

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

essential hypertension

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.05
p 1.0e-23
N 427,704
Major Consortium StudyLarge GWAS
European

hypertension

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.05
p 5.0e-23
N 428,138
Major Consortium StudyLarge GWAS
European
Allele C
OR 0.04
p 1.0e-15
N 394,626
Large GWAS
European

systolic blood pressure

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 3.0e-17
N 425,750
Major Consortium StudyLarge GWAS
European

Beta blocking agent use measurement

Allele T
OR 0.05
p 8.0e-10
N 224,024
Major Consortium StudyLarge GWAS
European

About AGT

The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure, body fluid and electrolyte homeostasis, and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Nov 2019]

View all AGT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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