Sensitive

Brugada syndrome

SCN5A · rs41310232

Where this position leads

What the study found

Who was studied 2,820 European ancestry cases, 10,001 European ancestry controls.

The effect Each copy of the A allele carried 1.56 times the odds of Brugada syndrome (95% confidence interval 1.40 - 1.74); p = 1 × 10⁻¹⁵.

How common The A allele had a frequency of about 9% in the people studied.

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

What each result means

A/A Two copies of the version the research linked to Brugada syndrome. That is the strongest link of the three results. A link in a study is not a diagnosis.

A/G One copy of the version the research linked to Brugada syndrome. That is a smaller link than two copies.

G/G No copy of the version the research linked to Brugada syndrome. This is the starting point the study compared everyone against.

Source

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R

and 134 more — show all

Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina MS, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George AL Jr, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR

KORA-Study Group · Nantes Referral Center for inherited cardiac arrhythmia

Nature genetics · 2022 · PMID 35210625

Questions about rs41310232

What is rs41310232?

rs41310232 is a single position in the genome, in or near the SCN5A gene. Published research associates it with brugada syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs41310232 linked to?

On MyGeneLog this position is linked to Brugada Syndrome. The research behind each link, and its sources, are set out on that condition page.

Does having rs41310232 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 rs41310232 come from?

GWAS Catalog, Nature genetics 2022, PMID:35210625. 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.

Brugada syndrome (rs41310232). MyGeneLog™. https://www.mygenelog.com/variants/rs41310232

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