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Left ventricular end-systolic volume

SMARCB1 · rs5760054

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 32,528 European ancestry individuals.

The effect The reported allele is C; the catalogue records no effect size ; p = 2 × 10⁻¹³.

Where it sits Chromosome 22, band 22q11.23 — in an intron of SMARCB1.

What each result means

C/C Two copies of the version the research linked to Left ventricular end-systolic volume. That is the strongest link of the three results. A link in a study is not a diagnosis.

C/T One copy of the version the research linked to Left ventricular end-systolic volume. That is a smaller link than two copies.

T/T No copy of the version the research linked to Left ventricular end-systolic volume. This is the starting point the study compared everyone against.

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 rs5760054

What is rs5760054?

rs5760054 is a single position in the genome, in or near the SMARCB1 gene. Published research associates it with left 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 rs5760054 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 rs5760054 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

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.

Left ventricular end-systolic volume (rs5760054). MyGeneLog™. https://www.mygenelog.com/variants/rs5760054

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