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Hypertrophic cardiomyopathy

near OR5BQ1P · rs78310129

Where this position leads

Condition: Hypertrophic Cardiomyopathy

rs78310129 Condition: Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy Condition rs78310129 rs78310129 near OR5BQ1P

What the study found

Who was studied 252 African ancestry cases, 1,363 African ancestry controls, 123 Admixed American ancestry cases, 175 Admixed American ancestry controls, 72 East Asian ancestry cases, 346 East Asian ancestry controls, 5,222 European ancestry cases, 63,447 European ancestry controls, 189 South Asian ancestry cases, 1,903 South Asian ancestry controls, 42 cases, 1,125 controls.

The effect Each copy of the T allele carried 3.53 times the odds of Hypertrophic cardiomyopathy (95% confidence interval 2.92-4.27); p = 1 × 10−38.

How common The T allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 11, band 11q12.1 — between genes, 3 kb from OR5BQ1P.

What each result means

C/C No copy of the version the research linked to Hypertrophic cardiomyopathy. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Hypertrophic cardiomyopathy. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Hypertrophic cardiomyopathy. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy
Tadros R, Zheng SL, Grace C, Jordà P, Francis C, West DM, Jurgens SJ, Thomson KL, Harper AR, Ormondroyd E, Xu X, Theotokis PI
and 50 more — show all
Buchan RJ, McGurk KA, Mazzarotto F, Boschi B, Pelo E, Lee M, Noseda M, Varnava A, Vermeer AMC, Walsh R, Amin AS, van Slegtenhorst MA, Roslin NM, Strug LJ, Salvi E, Lanzani C, de Marvao A, Roberts JD, Tremblay-Gravel M, Giraldeau G, Cadrin-Tourigny J, L'Allier PL, Garceau P, Talajic M, Gagliano Taliun SA, Pinto YM, Rakowski H, Pantazis A, Bai W, Baksi J, Halliday BP, Prasad SK, Barton PJR, O'Regan DP, Cook SA, de Boer RA, Christiaans I, Michels M, Kramer CM, Ho CY, Neubauer S, Matthews PM, Wilde AAM, Tardif JC, Olivotto I, Adler A, Goel A, Ware JS, Bezzina CR, Watkins H
Hypergenes InterOmics Collaborators · HCMR Investigators
Nature genetics · 2025 · PMID 39966646 · open access

Questions about rs78310129

What is rs78310129?

rs78310129 is a single position in the genome, in or near the near OR5BQ1P gene. Published research associates it with hypertrophic cardiomyopathy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs78310129 linked to?

On MyGeneLog this position is linked to Hypertrophic Cardiomyopathy. The research behind each link, and its sources, are set out on that condition page.

Does having rs78310129 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs78310129 come from?

GWAS Catalog, Nature genetics 2025, PMID:39966646. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Hypertrophic cardiomyopathy (rs78310129). MyGeneLog™. https://www.mygenelog.com/variants/rs78310129

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