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Left ventricular global radial strain

MITF · rs62253179

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 36,033 European or unknown ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.473 lower (95% confidence interval 0.33-0.62); p = 2 × 10−10.

How common The C allele had a frequency of about 82% in the people studied.

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

What each result means

A/A No copy of the version the research linked to Left ventricular global radial strain. This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to Left ventricular global radial strain. That is a smaller link than two copies.
C/C Two copies of the version the research linked to Left ventricular global radial strain. 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 rs62253179

What is rs62253179?

rs62253179 is a single position in the genome, in or near the MITF gene. Published research associates it with left ventricular global radial strain. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs62253179 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 rs62253179 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

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Left ventricular global radial strain (rs62253179). MyGeneLog™. https://www.mygenelog.com/variants/rs62253179

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