Standard

Aortic root size

TMEM16A · rs7127129

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 30,201 European ancestry individuals; replicated in 14,002 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.015 cm lower (95% confidence interval 0.0091-0.0209); p = 2 × 10⁻⁹.

How common The G allele had a frequency of about 41% in the people studied.

Where it sits Chromosome 11, band 11q13.3 — in an intron of ANO1.

What each result means

A/A No copy of the version the research linked to Aortic root size. This is the starting point the study compared everyone against.

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

G/G Two copies of the version the research linked to Aortic root size. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function

Wild PS, Felix JF, Schillert A, Teumer A, Chen MH, Leening MJG, Völker U, Großmann V, Brody JA, Irvin MR, Shah SJ, Pramana S

and 112 more — show all

Lieb W, Schmidt R, Stanton AV, Malzahn D, Smith AV, Sundström J, Minelli C, Ruggiero D, Lyytikäinen LP, Tiller D, Smith JG, Monnereau C, Di Tullio MR, Musani SK, Morrison AC, Pers TH, Morley M, Kleber ME, Aragam J, Benjamin EJ, Bis JC, Bisping E, Broeckel U, Cheng S, Deckers JW, Del Greco M F, Edelmann F, Fornage M, Franke L, Friedrich N, Harris TB, Hofer E, Hofman A, Huang J, Hughes AD, Kähönen M, Investigators K, Kruppa J, Lackner KJ, Lannfelt L, Laskowski R, Launer LJ, Leosdottir M, Lin H, Lindgren CM, Loley C, MacRae CA, Mascalzoni D, Mayet J, Medenwald D, Morris AP, Müller C, Müller-Nurasyid M, Nappo S, Nilsson PM, Nuding S, Nutile T, Peters A, Pfeufer A, Pietzner D, Pramstaller PP, Raitakari OT, Rice KM, Rivadeneira F, Rotter JI, Ruohonen ST, Sacco RL, Samdarshi TE, Schmidt H, Sharp ASP, Shields DC, Sorice R, Sotoodehnia N, Stricker BH, Surendran P, Thom S, Töglhofer AM, Uitterlinden AG, Wachter R, Völzke H, Ziegler A, Münzel T, März W, Cappola TP, Hirschhorn JN, Mitchell GF, Smith NL, Fox ER, Dueker ND, Jaddoe VWV, Melander O, Russ M, Lehtimäki T, Ciullo M, Hicks AA, Lind L, Gudnason V, Pieske B, Barron AJ, Zweiker R, Schunkert H, Ingelsson E, Liu K, Arnett DK, Psaty BM, Blankenberg S, Larson MG, Felix SB, Franco OH, Zeller T, Vasan RS, Dörr M

The Journal of clinical investigation · 2017 · PMID 28394258

Questions about rs7127129

What is rs7127129?

rs7127129 is a single position in the genome, in or near the TMEM16A gene. Published research associates it with aortic root size. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs7127129 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 rs7127129 come from?

GWAS Catalog, J Clin Invest 2017, PMID:28394258. 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.

Aortic root size (rs7127129). MyGeneLog™. https://www.mygenelog.com/variants/rs7127129

← See all variants