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Left ventricular end systole anterolateral wall thickness

MITF · rs62250980

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 41,646 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.05 higher (95% confidence interval 0.03-0.07); p = 4 × 10⁻¹⁰.

Where it sits Chromosome 3, band 3p13 — in an intron of MITF.

What each result means

A/A Two copies of the version the research linked to Left ventricular end systole anterolateral wall thickness. That is the strongest link of the three results. A link in a study is not a diagnosis.

A/G One copy of the version the research linked to Left ventricular end systole anterolateral wall thickness. That is a smaller link than two copies.

G/G No copy of the version the research linked to Left ventricular end systole anterolateral wall thickness. This is the starting point the study compared everyone against.

Source

Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy

Ning C, Fan L, Jin M, Wang W, Hu Z, Cai Y, Chen L, Lu Z, Zhang M, Chen C, Li Y, Zhang F

and 23 more — show all

Wang W, Liu Y, Chen S, Jiang Y, He C, Wang Z, Chen X, Li H, Li G, Ma Q, Geng H, Tian W, Zhang H, Liu B, Xia Q, Yang X, Liu Z, Li B, Zhu Y, Li X, Zhang S, Tian J, Miao X

Nature communications · 2023 · PMID 38036550 · open access

Questions about rs62250980

What is rs62250980?

rs62250980 is a single position in the genome, in or near the MITF gene. Published research associates it with left ventricular end systole anterolateral wall thickness. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs62250980 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 rs62250980 come from?

GWAS Catalog, Nature communications 2023, PMID:38036550. 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 systole anterolateral wall thickness (rs62250980). MyGeneLog™. https://www.mygenelog.com/variants/rs62250980

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