Hypertrophic Obstructive Cardiomyopathy, as genome-wide studies have reported it: 8 positions from 1 study, the largest recording 990 cases and 571,707 controls (African American or Afro-Caribbean ancestry, European ancestry). Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
This is the record of what genome-wide association studies have found for Hypertrophic Obstructive Cardiomyopathy (the GWAS Catalog's "Hypertrophic obstructive cardiomyopathy (PheCode 425.11)"): 8 positions reported by 1 study. The page is put together by code from the catalogue's records and the studies' own listings, and it is rebuilt whenever the records change, so it always reflects them as they stand.
Verma A et al. 2024, in Science — Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Sample in the catalogue's record: 990 cases and 571,707 controls (African American or Afro-Caribbean ancestry, European ancestry). The 8 positions on this page from it: rs183946216 (near LINC02496), rs186052913 (NEK10), rs538718952 (near VN1R66P), rs187362465 (MEF2C-AS1), rs184776833 (MAGI2), rs1055895789 (LINC02865), rs182465157 (near RPSAP40), rs370686777 (RGS2-AS1). PMID:39024449.
The 8 positions lie in or near 8 genes: LINC02496, NEK10, VN1R66P, MEF2C-AS1, MAGI2, LINC02865, RPSAP40, RGS2-AS1. A gene named here is the catalogue's mapped location for a position, not a mechanism; the studies are cited above so that a reader can go to them.
Verma A et al. 2024 reported the smallest P value on this page — P = 2 × 10-13 — at rs183946216 near LINC02496.
Association records say which positions differ, on average, between people with Hypertrophic Obstructive Cardiomyopathy 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.
Hypertrophic Obstructive Cardiomyopathy is diagnosed by a clinician — not from a genotype. None of the 8 variants on this page is used by any guideline to predict, screen for or diagnose it.
Everything here comes from population-level association records, put together by code. Those records compare groups of people; they do not examine anyone, and they give no guidance on care. For symptoms, testing or treatment, ask a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Hypertrophic Obstructive Cardiomyopathy comes down to these specific, well-studied positions — not a diagnosis.
near LINC02496 · rs183946216
See detailed info →NEK10 · rs186052913
See detailed info →near VN1R66P · rs538718952
See detailed info →MEF2C-AS1 · rs187362465
See detailed info →MAGI2 · rs184776833
See detailed info →LINC02865 · rs1055895789
See detailed info →near RPSAP40 · rs182465157
See detailed info →RGS2-AS1 · rs370686777
See detailed info →Databases, guidelines and references
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Hypertrophic Obstructive Cardiomyopathy. MyGeneLog™. https://www.mygenelog.com/conditions/hypertrophic-obstructive-cardiomyopathy
Hypertrophic Obstructive Cardiomyopathy is the condition the GWAS Catalog files under "Hypertrophic obstructive cardiomyopathy (PheCode 425.11)". This page does not define it in its own words; it lists what genome-wide studies have reported: 8 positions from 1 study, with each study's sample and citation.
Genome-wide studies have reported 8 associated positions; the largest study behind this page recorded 990 cases and 571,707 controls (African American or Afro-Caribbean ancestry, European 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 8 genes: LINC02496, NEK10, VN1R66P, MEF2C-AS1, MAGI2, LINC02865, RPSAP40, RGS2-AS1. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Hypertrophic Obstructive Cardiomyopathy is diagnosed by a clinician, and no guideline uses a genotype to predict it.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.