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Mitral valve prolapse

PCNX · rs17767392

What the study found

Who was studied 1,442 European ancestry cases, 2,439 European ancestry controls; replicated in 1,422 European ancestry cases, 6,779 European ancestry controls.

The effect Each copy of the T allele carried 1.23 times the odds of Mitral valve prolapse (95% confidence interval 1.15-1.32); p = 2 × 10−8.

How common The T allele had a frequency of about 25% in the people studied.

Where it sits Chromosome 14, band 14q24.2 — in an intron of SIPA1L1-AS1.

What each result means

C/C No copy of the version the research linked to Mitral valve prolapse. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Mitral valve prolapse. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Mitral valve prolapse. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs17767392

What is rs17767392?

rs17767392 is a single position in the genome, in or near the PCNX gene. Published research associates it with mitral valve prolapse. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs17767392 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 rs17767392 come from?

GWAS Catalog, Nature genetics 2015, PMID:26301497. 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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Mitral valve prolapse (rs17767392). MyGeneLog™. https://www.mygenelog.com/variants/rs17767392

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