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Systolic blood pressure

CCDC30 · rs12116637

Where this position leads

What the study found

Who was studied 365,998 European ancestry individuals, 63,490 African ancestry individuals, 22,802 Hispanic individuals, 4,792 Asian ancestry individuals, 2,695 Native American ancestry individuals; replicated in 299,024 European ancestry individuals, 17,277 individuals.

The effect Each copy of the A allele shifted the measure 0.181 mmHg higher (95% confidence interval 0.12-0.24); p = 2 × 10⁻⁹.

How common The A allele had a frequency of about 28% in the people studied.

Where it sits Chromosome 1, band 1p34.2 — in an intron of LOC124904162.

What each result means

A/A Two copies of the version the research linked to Systolic blood pressure. 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 Systolic blood pressure. That is a smaller link than two copies.

G/G No copy of the version the research linked to Systolic blood pressure. This is the starting point the study compared everyone against.

Source

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals

Giri A, Hellwege JN, Keaton JM, Park J, Qiu C, Warren HR, Torstenson ES, Kovesdy CP, Sun YV, Wilson OD, Robinson-Cohen C, Roumie CL

and 86 more — show all

Chung CP, Birdwell KA, Damrauer SM, DuVall SL, Klarin D, Cho K, Wang Y, Evangelou E, Cabrera CP, Wain LV, Shrestha R, Mautz BS, Akwo EA, Sargurupremraj M, Debette S, Boehnke M, Scott LJ, Luan J, Zhao JH, Willems SM, Thériault S, Shah N, Oldmeadow C, Almgren P, Li-Gao R, Verweij N, Boutin TS, Mangino M, Ntalla I, Feofanova E, Surendran P, Cook JP, Karthikeyan S, Lahrouchi N, Liu C, Sepúlveda N, Richardson TG, Kraja A, Amouyel P, Farrall M, Poulter NR, Laakso M, Zeggini E, Sever P, Scott RA, Langenberg C, Wareham NJ, Conen D, Palmer CNA, Attia J, Chasman DI, Ridker PM, Melander O, Mook-Kanamori DO, Harst PV, Cucca F, Schlessinger D, Hayward C, Spector TD, Jarvelin MR, Hennig BJ, Timpson NJ, Wei WQ, Smith JC, Xu Y, Matheny ME, Siew EE, Lindgren C, Herzig KH, Dedoussis G, Denny JC, Psaty BM, Howson JMM, Munroe PB, Newton-Cheh C, Caulfield MJ, Elliott P, Gaziano JM, Concato J, Wilson PWF, Tsao PS, Velez Edwards DR, Susztak K, O'Donnell CJ, Hung AM, Edwards TL

Understanding Society Scientific Group · International Consortium for Blood Pressure · Blood Pressure-International Consortium of Exome Chip Studies · Million Veteran Program

Nature genetics · 2019 · PMID 30578418 · open access

Questions about rs12116637

What is rs12116637?

rs12116637 is a single position in the genome, in or near the CCDC30 gene. Published research associates it with systolic blood pressure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12116637 linked to?

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

Does having rs12116637 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 rs12116637 come from?

GWAS Catalog, Nat Genet 2018, PMID:30578418. 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.

Systolic blood pressure (rs12116637). MyGeneLog™. https://www.mygenelog.com/variants/rs12116637

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