Standard

Lung function (FVC)

AP3B1 · rs12513481

Where this position leads

Condition: Pulmonary Function (Lung Capacity)

What the study found

Who was studied 60,552 European ancestry individuals, 8,429 African individuals, 9,959 Korean ancestry individuals, 11,775 Hispanic individuals.

The effect Each copy of the C allele shifted the measure 25 ml lower (95% confidence interval 17.68-32.34); p = 2 × 10⁻¹¹.

How common The C allele had a frequency of about 23% in the people studied.

Where it sits Chromosome 5, band 5q14.1 — in an intron of AP3B1.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Lung function (FVC) compared to the general population.

C/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Lung function (FVC).

G/G Published research associates this genotype with typical/baseline likelihood of Lung function (FVC) — no copies of the reported risk allele.

Source

Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function

Wyss AB, Sofer T, Lee MK, Terzikhan N, Nguyen JN, Lahousse L, Latourelle JC, Smith AV, Bartz TM, Feitosa MF, Gao W, Ahluwalia TS

and 91 more — show all

Tang W, Oldmeadow C, Duan Q, de Jong K, Wojczynski MK, Wang XQ, Noordam R, Hartwig FP, Jackson VE, Wang T, Obeidat M, Hobbs BD, Huan T, Gui H, Parker MM, Hu D, Mogil LS, Kichaev G, Jin J, Graff M, Harris TB, Kalhan R, Heckbert SR, Paternoster L, Burkart KM, Liu Y, Holliday EG, Wilson JG, Vonk JM, Sanders JL, Barr RG, de Mutsert R, Menezes AMB, Adams HHH, van den Berge M, Joehanes R, Levin AM, Liberto J, Launer LJ, Morrison AC, Sitlani CM, Celedón JC, Kritchevsky SB, Scott RJ, Christensen K, Rotter JI, Bonten TN, Wehrmeister FC, Bossé Y, Xiao S, Oh S, Franceschini N, Brody JA, Kaplan RC, Lohman K, McEvoy M, Province MA, Rosendaal FR, Taylor KD, Nickle DC, Williams LK, Burchard EG, Wheeler HE, Wheeler HE, Sin DD, Gudnason V, North KE, Fornage M, Psaty BM, Myers RH, O'Connor G, Hansen T, Laurie CC, Cassano PA, Sung J, Kim WJ, Attia JR, Lange L, Boezen HM, Thyagarajan B, Rich SS, Mook-Kanamori DO, Horta BL, Uitterlinden AG, Im HK, Cho MH, Brusselle GG, Gharib SA, Dupuis J, Manichaikul A, London SJ

Nature communications · 2018 · PMID 30061609 · open access

Questions about rs12513481

What is rs12513481?

rs12513481 is a single position in the genome, in or near the AP3B1 gene. Published research associates it with lung function (fvc). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12513481 linked to?

On MyGeneLog this position is linked to Pulmonary Function (Lung Capacity). The research behind each link, and its sources, are set out on that condition page.

Does having rs12513481 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 rs12513481 come from?

GWAS Catalog, Nat Commun 2018, PMID:30061609. 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.

Lung function (FVC) (rs12513481). MyGeneLog™. https://www.mygenelog.com/variants/rs12513481

← See all variants