Standard

Diastolic blood pressure

ATP2B1 · rs111478946

Where this position leads

What the study found

Who was studied 130,777 Japanese ancestry individuals; replicated in 53,008 East Asian individuals, 105,253 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.386 lower (95% confidence interval 0.3-0.47); p = 1 × 10⁻¹⁸.

How common The A allele had a frequency of about 34% in the people studied.

Where it sits Chromosome 12, band 12q21.33 — in an intron of ATP2B1.

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

Interethnic analyses of blood pressure loci in populations of East Asian and European descent

Takeuchi F, Akiyama M, Matoba N, Katsuya T, Nakatochi M, Tabara Y, Narita A, Saw WY, Moon S, Spracklen CN, Chai JF, Kim YJ

and 83 more — show all

Zhang L, Wang C, Li H, Li H, Wu JY, Dorajoo R, Nierenberg JL, Wang YX, He J, Bennett DA, Takahashi A, Momozawa Y, Hirata M, Matsuda K, Rakugi H, Nakashima E, Isono M, Shirota M, Hozawa A, Ichihara S, Matsubara T, Yamamoto K, Kohara K, Igase M, Han S, Gordon-Larsen P, Huang W, Lee NR, Adair LS, Hwang MY, Lee J, Chee ML, Sabanayagam C, Zhao W, Liu J, Reilly DF, Sun L, Huo S, Edwards TL, Long J, Chang LC, Chen CH, Yuan JM, Koh WP, Friedlander Y, Kelly TN, Bin Wei W, Xu L, Cai H, Xiang YB, Lin K, Clarke R, Walters RG, Millwood IY, Li L, Chambers JC, Kooner JS, Elliott P, van der Harst P, Chen Z, Sasaki M, Shu XO, Jonas JB, He J, Heng CK, Chen YT, Zheng W, Zheng W, Lin X, Teo YY, Tai ES, Cheng CY, Wong TY, Sim X, Mohlke KL, Yamamoto M, Kim BJ, Miki T, Nabika T, Yokota M, Kamatani Y, Kubo M, Kato N

International Genomics of Blood Pressure (iGEN-BP) Consortium

Nature communications · 2018 · PMID 30487518 · open access

Questions about rs111478946

What is rs111478946?

rs111478946 is a single position in the genome, in or near the ATP2B1 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 rs111478946 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 rs111478946 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 rs111478946 come from?

GWAS Catalog, Nat Commun 2018, PMID:30487518. 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 (rs111478946). MyGeneLog™. https://www.mygenelog.com/variants/rs111478946

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