rs2566514

This variant is located in the NOS3 gene.

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GWAS Catalog Trait Associations (1)

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

diastolic blood pressure

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)

Allele C

OR 0.18

p 6.0e-13

N 526,001

Large GWAS

European

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

not specified; not provided; NOS3-related disorder

View on ClinVar →

About NOS3

Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]

View all NOS3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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