Standard

QT interval

SCN5A · rs12053903

Where this position leads

Condition: QT Interval and Drug-Induced Long QT

What the study found

Who was studied 83,884 European ancestry individuals, 9,610 African American individuals, 1,382 Hispanic individuals, 750 East Asian ancestry individuals..

The effect Each copy of the C allele shifted the measure 0.88 ms lower (95% confidence interval 0.7-1.06); p = 1 × 10⁻²⁶.

How common The C allele had a frequency of about 38% in the people studied.

Where it sits Chromosome 3, band 3p22.2 — in an intron of SCN5A.

What each result means

C/C Two 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.

C/T One copy of the version the research linked to QT interval. That is a smaller link than two copies.

T/T No copy of the version the research linked to QT interval. This is the starting point the study compared everyone against.

Source

ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals

Bihlmeyer NA, Brody JA, Smith AV, Warren HR, Lin H, Isaacs A, Liu CT, Marten J, Radmanesh F, Hall LM, Grarup N, Mei H

and 88 more — show all

Müller-Nurasyid M, Huffman JE, Verweij N, Guo X, Yao J, Li-Gao R, van den Berg M, Weiss S, Prins BP, van Setten J, Haessler J, Lyytikäinen LP, Li M, Alonso A, Soliman EZ, Bis JC, Austin T, Chen YI, Psaty BM, Harrris TB, Launer LJ, Padmanabhan S, Dominiczak A, Huang PL, Xie Z, Ellinor PT, Kors JA, Campbell A, Murray AD, Nelson CP, Tobin MD, Bork-Jensen J, Hansen T, Pedersen O, Linneberg A, Sinner MF, Peters A, Waldenberger M, Meitinger T, Perz S, Kolcic I, Rudan I, de Boer RA, van der Meer P, Lin HJ, Taylor KD, de Mutsert R, Trompet S, Jukema JW, Maan AC, Stricker BHC, Rivadeneira F, Uitterlinden A, Völker U, Homuth G, Völzke H, Felix SB, Mangino M, Spector TD, Bots ML, Perez M, Raitakari OT, Kähönen M, Mononen N, Gudnason V, Munroe PB, Lubitz SA, van Duijn CM, Newton-Cheh CH, Hayward C, Rosand J, Samani NJ, Kanters JK, Wilson JG, Kääb S, Polasek O, van der Harst P, Heckbert SR, Rotter JI, Mook-Kanamori DO, Eijgelsheim M, Dörr M, Jamshidi Y, Asselbergs FW, Kooperberg C, Lehtimäki T, Arking DE, Sotoodehnia N

Circulation. Genomic and precision medicine · 2018 · PMID 29874175 · open access

Questions about rs12053903

What is rs12053903?

rs12053903 is a single position in the genome, in or near the SCN5A 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 rs12053903 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 rs12053903 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 rs12053903 come from?

GWAS Catalog, Circulation. Genomic and precision medicine 2018, PMID:29874175. 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 (rs12053903). MyGeneLog™. https://www.mygenelog.com/variants/rs12053903

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