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Right ventricular end systolic volume

TTN-AS1 · rs2042995

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 35,928 European ancestry individuals.

The effect The reported allele is T; the catalogue records no effect size ; p = 5 × 10⁻¹⁷.

Where it sits Chromosome 2, band 2q31.2 — a missense change in TTN-AS1.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Right ventricular end systolic volume — no copies of the reported risk allele.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Right ventricular end systolic volume.

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Right ventricular end systolic volume compared to the general population.

Source

Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity

Schmidt AF, Bourfiss M, Alasiri A, Puyol-Anton E, Chopade S, van Vugt M, van der Laan SW, Gross C, Clarkson C, Henry A, Lumbers TR, van der Harst P

and 9 more — show all

Franceschini N, Bis JC, Velthuis BK, Te Riele ASJM, Hingorani AD, Ruijsink B, Asselbergs FW, van Setten J, Finan C

Science advances · 2023 · PMID 37126556 · open access

Questions about rs2042995

What is rs2042995?

rs2042995 is a single position in the genome, in or near the TTN-AS1 gene. Published research associates it with right ventricular end systolic volume. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2042995 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 rs2042995 come from?

GWAS Catalog, Science advances 2023, PMID:37126556. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Right ventricular end systolic volume (rs2042995). MyGeneLog™. https://www.mygenelog.com/variants/rs2042995

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