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QT interval

LIG3 · rs2074518

Where this position leads

Condition: QT Interval and Drug-Induced Long QT

rs2074518 Condition: QT Interval and Drug-Induced Long QT QT Interval and Drug-Induced Long QT Condition rs2074518 rs2074518 LIG3

What the study found

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 1.33 lower (95% confidence interval 0.97-1.69); p = 3 × 10−13.

How common The T allele had a frequency of about 46% in the people studied.

Where it sits Chromosome 17, band 17q12 — in an intron of LIG3.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of QT interval — no copies of the reported risk allele.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with QT interval.
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of QT interval compared to the general population.
Source
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits
van Setten J, Verweij N, Mbarek H, Niemeijer MN, Trompet S, Arking DE, Brody JA, Gandin I, Grarup N, Hall LM, Hemerich D, Lyytikäinen LP
and 49 more — show all
Mei H, Müller-Nurasyid M, Prins BP, Robino A, Smith AV, Warren HR, Asselbergs FW, Boomsma DI, Caulfield MJ, Eijgelsheim M, Ford I, Hansen T, Harris TB, Heckbert SR, Hottenga JJ, Iorio A, Kors JA, Linneberg A, MacFarlane PW, Meitinger T, Nelson CP, Raitakari OT, Silva Aldana CT, Sinagra G, Sinner M, Soliman EZ, Stoll M, Uitterlinden A, van Duijn CM, Waldenberger M, Alonso A, Gasparini P, Gudnason V, Jamshidi Y, Kääb S, Kanters JK, Lehtimäki T, Munroe PB, Peters A, Samani NJ, Sotoodehnia N, Ulivi S, Wilson JG, de Geus EJC, Jukema JW, Stricker B, van der Harst P, de Bakker PIW, Isaacs A
European journal of human genetics : EJHG · 2019 · PMID 30679814 · open access

Questions about rs2074518

What is rs2074518?

rs2074518 is a single position in the genome, in or near the LIG3 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 rs2074518 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 rs2074518 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 rs2074518 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.

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.

QT interval (rs2074518). MyGeneLog™. https://www.mygenelog.com/variants/rs2074518

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