Standard

Systolic blood pressure

CFAP251 · rs17852561

Where this position leads

What the study found

Who was studied 810,865 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.183 mmHg higher (95% confidence interval 0.12-0.24); p = 5 × 10⁻⁹.

How common The T allele had a frequency of about 30% in the people studied.

Where it sits Chromosome 12, band 12q24.31 — a missense change in CFAP251.

What ClinVar records

Classification Benign for CFAP251-related disorder; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2019-10-18. ClinVar record 3060236 NM_144668.6(CFAP251):c.1948C>T (p.Leu650Phe)

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

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

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

T/T 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.

Source

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Surendran P, Feofanova EV, Lahrouchi N, Ntalla I, Karthikeyan S, Cook J, Chen L, Mifsud B, Yao C, Kraja AT, Cartwright JH, Hellwege JN

and 269 more — show all

Giri A, Tragante V, Thorleifsson G, Liu DJ, Prins BP, Stewart ID, Cabrera CP, Eales JM, Akbarov A, Auer PL, Bielak LF, Bis JC, Braithwaite VS, Brody JA, Daw EW, Warren HR, Drenos F, Nielsen SF, Faul JD, Fauman EB, Fava C, Ferreira T, Foley CN, Franceschini N, Gao H, Giannakopoulou O, Giulianini F, Gudbjartsson DF, Guo X, Harris SE, Havulinna AS, Helgadottir A, Huffman JE, Hwang SJ, Kanoni S, Kontto J, Larson MG, Li-Gao R, Lindström J, Lotta LA, Lu Y, Luan J, Mahajan A, Malerba G, Masca NGD, Mei H, Menni C, Mook-Kanamori DO, Mosen-Ansorena D, Müller-Nurasyid M, Paré G, Paul DS, Perola M, Poveda A, Rauramaa R, Richard M, Richardson TG, Sepúlveda N, Sim X, Smith AV, Smith JA, Staley JR, Stanáková A, Sulem P, Thériault S, Thorsteinsdottir U, Trompet S, Varga TV, Velez Edwards DR, Veronesi G, Weiss S, Willems SM, Yao J, Young R, Yu B, Zhang W, Zhao JH, Zhao W, Zhao W, Evangelou E, Aeschbacher S, Asllanaj E, Blankenberg S, Bonnycastle LL, Bork-Jensen J, Brandslund I, Braund PS, Burgess S, Cho K, Christensen C, Connell J, Mutsert R, Dominiczak AF, Dörr M, Eiriksdottir G, Farmaki AE, Gaziano JM, Grarup N, Grove ML, Hallmans G, Hansen T, Have CT, Heiss G, Jørgensen ME, Jousilahti P, Kajantie E, Kamat M, Käräjämäki A, Karpe F, Koistinen HA, Kovesdy CP, Kuulasmaa K, Laatikainen T, Lannfelt L, Lee IT, Lee WJ, Linneberg A, Martin LW, Moitry M, Nadkarni G, Neville MJ, Palmer CNA, Papanicolaou GJ, Pedersen O, Peters J, Poulter N, Rasheed A, Rasmussen KL, Rayner NW, Mägi R, Renström F, Rettig R, Rossouw J, Schreiner PJ, Sever PS, Sigurdsson EL, Skaaby T, Sun YV, Sundstrom J, Thorgeirsson G, Esko T, Trabetti E, Tsao PS, Tuomi T, Turner ST, Tzoulaki I, Vaartjes I, Vergnaud AC, Willer CJ, Wilson PWF, Witte DR, Yonova-Doing E, Zhang H, Aliya N, Almgren P, Amouyel P, Asselbergs FW, Barnes MR, Blakemore AI, Boehnke M, Bots ML, Bottinger EP, Buring JE, Chambers JC, Chen YI, Chowdhury R, Conen D, Correa A, Davey Smith G, Boer RA, Deary IJ, Dedoussis G, Deloukas P, Di Angelantonio E, Elliott P, Felix SB, Ferrières J, Ford I, Fornage M, Franks PW, Franks S, Frossard P, Gambaro G, Gaunt TR, Groop L, Gudnason V, Harris TB, Hayward C, Hennig BJ, Herzig KH, Ingelsson E, Tuomilehto J, Järvelin MR, Jukema JW, Kardia SLR, Kee F, Kooner JS, Kooperberg C, Launer LJ, Lind L, Loos RJF, Majumder AAS, Laakso M, McCarthy MI, Melander O, Mohlke KL, Murray AD, Nordestgaard BG, Orho-Melander M, Packard CJ, Padmanabhan S, Palmas W, Polasek O, Porteous DJ, Prentice AM, Province MA, Relton CL, Rice K, Ridker PM, Rolandsson O, Rosendaal FR, Rotter JI, Rudan I, Salomaa V, Samani NJ, Sattar N, Sheu WH, Smith BH, Soranzo N, Spector TD, Starr JM, Sebert S, Taylor KD, Lakka TA, Timpson NJ, Tobin MD, van der Harst P, van der Meer P, Ramachandran VS, Verweij N, Virtamo J, Völker U, Weir DR, Zeggini E, Charchar FJ, Wareham NJ, Langenberg C, Tomaszewski M, Butterworth AS, Caulfield MJ, Danesh J, Edwards TL, Holm H, Hung AM, Lindgren CM, Liu C, Manning AK, Morris AP, Morrison AC, O'Donnell CJ, Psaty BM, Saleheen D, Stefansson K, Boerwinkle E, Chasman DI, Levy D, Newton-Cheh C, Munroe PB, Howson JMM

LifeLines Cohort Study · EPIC-CVD · EPIC-InterAct · Understanding Society Scientific Group · Million Veteran Program

Nature genetics · 2020 · PMID 33230300 · open access

Questions about rs17852561

What is rs17852561?

rs17852561 is a single position in the genome, in or near the CFAP251 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 rs17852561 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 rs17852561 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 rs17852561 come from?

GWAS Catalog, Nature genetics 2020, PMID:33230300. 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 (rs17852561). MyGeneLog™. https://www.mygenelog.com/variants/rs17852561

← See all variants