Respiratory Insufficiency, as genome-wide studies have reported it: 6 positions from 1 study, the largest recording 2,918 cases and 624,478 controls (African American or Afro-Caribbean ancestry, European ancestry, Hispanic or Latin American ancestry). Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
Genome-wide studies have so far placed 6 positions on Respiratory Insufficiency, from 1 study; the GWAS Catalog files the condition as "Respiratory insufficiency (PheCode 509.2)". MyGeneLog's code assembles this page from those records and rebuilds it when a new position is reported — nothing here was written by hand, and nothing here goes beyond what the records say.
Verma A et al. 2024, in Science — Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Studied in 2,918 cases and 624,478 controls (African American or Afro-Caribbean ancestry, European ancestry, Hispanic or Latin American ancestry). From it, 6 positions on this page: rs191651831 (RGSL1), rs181840138 (LINC00492), rs555387434 (near LINC00563), rs568519906 (RBFOX3), rs184792570 (near LYARP1), rs535190857 (CAMK2B). PMID:39024449.
The 6 positions sit in or beside 6 genes: RGSL1, LINC00492, LINC00563, RBFOX3, LYARP1, CAMK2B. These are locations, as the catalogue records them; whether any of these genes is how a position acts is a question the records leave open.
Verma A et al. 2024 reported the smallest P value on this page — P = 6 × 10-13 — at rs191651831 in RGSL1.
Association records say which positions differ, on average, between people with Respiratory Insufficiency and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
Respiratory Insufficiency is diagnosed by a clinician — not from a genotype. None of the 6 variants on this page is used by any guideline to predict, screen for or diagnose it.
This page was assembled by code from association records. It holds no clinical guidance, because its sources hold none: a genome-wide study reports which positions differ between people with a condition and people without, at the population level, and that is all this page repeats. A question about a symptom, a test or a treatment belongs with a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Respiratory Insufficiency comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
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Respiratory Insufficiency. MyGeneLog™. https://www.mygenelog.com/conditions/respiratory-insufficiency
Respiratory Insufficiency is the condition the GWAS Catalog files under "Respiratory insufficiency (PheCode 509.2)". This page does not define it in its own words; it lists what genome-wide studies have reported: 6 positions from 1 study, with each study's sample and citation.
Genome-wide studies have reported 6 associated positions; the largest study behind this page recorded 2,918 cases and 624,478 controls (African American or Afro-Caribbean ancestry, European ancestry, Hispanic or Latin American ancestry). Each common variant has a small effect, and an association in a population is not a cause in any one person.
The positions lie in or near 6 genes: RGSL1, LINC00492, LINC00563, RBFOX3, LYARP1, CAMK2B. A mapped gene is the catalogue's location for a position, not a mechanism.
No. Each variant shifts the odds only slightly, and only on average across many people. No guideline predicts Respiratory Insufficiency from a genotype; a clinician diagnoses it.
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