NOS1AP, variants, traits, and what the research shows

NOS1AP - what this gene does

NOS1AP (Nitric Oxide Synthase 1 Adaptor Protein) shows up most prominently in research on the heart's electrical rhythm, specifically the QT interval - the time it takes the heart's lower chambers to electrically reset after each beat. Variants in this gene also appear in rare disease trait categories, though detailed published summaries for those associations are not yet available in our dataset.

Key takeaways

• A common variant in this gene is carried by roughly 60% of people of European ancestry and measurably shifts the heart's electrical recovery interval.
• This gene was among the first linked genome-wide to the QT interval, a cardiac measurement connected to cardiovascular mortality in population research.
• Variants span both cardiovascular and rare disease trait categories across more than 100 catalogued sites.
• Gene expression data show this gene is active in heart and brain tissue, and some variants alter how much of it is produced in those tissues.
• All associations are population-level statistical signals, not deterministic predictions for any individual.

Notable variants

The three highest-magnitude variants on file - rs1656826074, rs771956293, and rs908210610 (each at magnitude 5.50) - are categorized under rare disease traits, but no published summaries are available in our dataset for these three signals. The best-characterized cardiovascular variant is rs10494366 (magnitude 4.50): it was among the first genome-wide significant hits for cardiac repolarization (QT interval), is carried by roughly 60% of people of European ancestry, explains up to 1.5% of QT interval variation in European-ancestry cohorts, and GTEx (a large reference database of gene expression across human tissues) data show it reduces NOS1AP expression in the heart and brain while increasing it in subcutaneous fat rs10494366. rs12029454 also has a published page within this cardiovascular cluster. Several additional cardiovascular-category variants at the same magnitude include rs1415259, rs16857031, rs17457880, rs4657175, and rs7545047, while rs3795646 adds a rare disease signal at the same tier.

Trait associations

The dominant trait theme for this gene is cardiovascular, centered on the QT interval. rs10494366 is the anchor finding: it reached genome-wide significance - the standard bar in a GWAS (genome-wide association study, a scan of many people's genomes for variants statistically associated with a trait) - for cardiac repolarization in European-ancestry cohorts. QT interval extremes have been associated with increased cardiovascular mortality rs10494366. The cardiovascular signal is further supported by at least ten variants at magnitude 4.50, including rs12029454, rs1415259, rs16857031, rs17457880, rs17460657, rs3934467, rs4657175, rs4657178, rs73017364, and rs7545047, reinforcing the cardiovascular signal at this locus. A separate rare disease cluster - anchored by rs1656826074, rs771956293, rs908210610, and rs3795646 - has no available trait detail in our current dataset.

Evidence quality

The cardiovascular evidence anchored by rs10494366 is the strongest in this gene's profile: it met genome-wide significance, was replicated in European-ancestry cohorts, explains up to 1.5% of QT interval variance, and has functional corroboration from GTEx tissue expression data. The ten additional cardiovascular-category variants at magnitude 4.50 have not been individually summarized in our dataset, so their replication status and effect sizes are not characterized here. The rare disease variants carry higher raw magnitude scores but lack published summaries, making it impossible to assess sample sizes, replication, or mechanistic context - treat these as preliminary signals pending further editorial coverage. All associations are population-level findings from genome-wide or large cohort studies, not confirmed causal relationships.

What this is NOT

These variants are population-level statistical signals from large genome scans, not deterministic predictors of disease or outcomes for any individual. We do not prescribe, diagnose, or advise based on any of this information.