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Who was studied 2,332 Erasmus Rucphen Family (founder/genetic isolate) individuals, 24,462 European ancestry individuals; replicated in 391 Carlantino (founder/genetic isolate) individuals, 981 Friuli Venezia Giulia (founder/genetic isolate) individuals, 31,225 European ancestry individuals, 2,048 African American individuals.
The effect
Each copy of the T allele shifted the measure 1.18 lower (95% confidence interval 0.81-1.54); p = 3 × 10−10.
How common The T allele had a frequency of about 46% in the people studied.
Where it sits Chromosome 17, band 17q24.3 — between genes, 282.5 kb from CALM2P1.
What each result means
C/CNo copy of the version the research linked to QT interval. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to QT interval. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to QT interval. That is the strongest link of the three results. A link in a study is not a diagnosis.
European journal of human genetics : EJHG · 2019 · PMID 30679814 · open access
Questions about rs4793397
What is rs4793397?
rs4793397 is a single position in the genome, in or near the KCNJ2 gene. Published research associates it with qt interval. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs4793397 linked to?
On MyGeneLog this position is linked to QT Interval and Drug-Induced Long QT. The research behind each link, and its sources, are set out on that condition page.
Does having rs4793397 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 rs4793397 come from?
GWAS Catalog, Eur J Hum Genet 2019, PMID:30679814. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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