Standard

Diastolic blood pressure

CEP85L · rs4946347

Where this position leads

What the study found

Who was studied 1,028,980 European ancestry individuals; replicated in 62,047 African ancestry individuals, 21,843 African American individuals.

The effect Each copy of the A allele shifted the measure 0.126 lower (95% confidence interval 0.097-0.156); p = 1 × 10⁻¹⁶.

Where it sits Chromosome 6, band 6q22.31 — in an intron of CEP85L.

What each result means

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

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

Source

Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits

Keaton JM, Kamali Z, Xie T, Vaez A, Williams A, Goleva SB, Ani A, Evangelou E, Hellwege JN, Yengo L, Young WJ, Traylor M

and 135 more — show all

Giri A, Zheng Z, Zeng J, Chasman DI, Morris AP, Caulfield MJ, Hwang SJ, Kooner JS, Conen D, Attia JR, Morrison AC, Loos RJF, Kristiansson K, Schmidt R, Hicks AA, Pramstaller PP, Nelson CP, Samani NJ, Risch L, Gyllensten U, Melander O, Riese H, Wilson JF, Campbell H, Rich SS, Psaty BM, Lu Y, Rotter JI, Guo X, Rice KM, Vollenweider P, Sundström J, Langenberg C, Tobin MD, Giedraitis V, Luan J, Tuomilehto J, Kutalik Z, Ripatti S, Salomaa V, Girotto G, Trompet S, Jukema JW, van der Harst P, Ridker PM, Giulianini F, Vitart V, Goel A, Watkins H, Harris SE, Deary IJ, van der Most PJ, Oldehinkel AJ, Keavney BD, Hayward C, Campbell A, Boehnke M, Scott LJ, Boutin T, Mamasoula C, Järvelin MR, Peters A, Gieger C, Lakatta EG, Cucca F, Hui J, Knekt P, Enroth S, De Borst MH, Polašek O, Concas MP, Catamo E, Cocca M, Li-Gao R, Hofer E, Schmidt H, Spedicati B, Waldenberger M, Strachan DP, Laan M, Teumer A, Dörr M, Gudnason V, Cook JP, Ruggiero D, Kolcic I, Boerwinkle E, Traglia M, Lehtimäki T, Raitakari OT, Johnson AD, Newton-Cheh C, Brown MJ, Dominiczak AF, Sever PJ, Poulter N, Chambers JC, Elosua R, Siscovick D, Esko T, Metspalu A, Strawbridge RJ, Laakso M, Hamsten A, Hottenga JJ, de Geus E, Morris AD, Palmer CNA, Nolte IM, Milaneschi Y, Marten J, Wright A, Zeggini E, Howson JMM, O'Donnell CJ, Spector T, Nalls MA, Simonsick EM, Liu Y, van Duijn CM, Butterworth AS, Danesh JN, Menni C, Wareham NJ, Khaw KT, Sun YV, Wilson PWF, Cho K, Visscher PM, Denny JC, Levy D, Edwards TL, Munroe PB, Snieder H, Warren HR

Million Veteran Program · Lifelines Cohort Study · CHARGE consortium · ICBP Consortium

Nature genetics · 2024 · PMID 38689001 · open access

Questions about rs4946347

What is rs4946347?

rs4946347 is a single position in the genome, in or near the CEP85L gene. Published research associates it with diastolic 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 rs4946347 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 rs4946347 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 rs4946347 come from?

GWAS Catalog, Nature genetics 2024, PMID:38689001. 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.

Diastolic blood pressure (rs4946347). MyGeneLog™. https://www.mygenelog.com/variants/rs4946347

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