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Height

CASC20 · rs4813800

Where this position leads

Condition: Height

What the study found

Who was studied 1,249 whole genome sequenced European ancestry individuals, 3,541 whole genome sequenced individuals, 46,910 European ancestry individuals, 471 Carlantino (founder/genetic isolate) individuals, 1,197 Friuli Venezia Giulia (founder/genetic isolate) individuals, 1,043 Mylopotamos (founder/genetic isolate) individuals, 933 Pomak (founder/genetic isolate) individuals, 1,785 Val Borbera (founder/genetic isolate) individuals; replicated in 205,003 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0426 higher (95% confidence interval 0.029-0.056); p = 1 × 10⁻⁹.

How common The A allele had a frequency of about 37% in the people studied.

Where it sits Chromosome 20, band 20p12.3 — between genes, 34.8 kb from CASC20.

What each result means

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

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Height.

G/G Published research associates this genotype with typical/baseline likelihood of Height — no copies of the reported risk allele.

Source

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

Tachmazidou I, Süveges D, Min JL, Ritchie GRS, Steinberg J, Walter K, Iotchkova V, Schwartzentruber J, Huang J, Memari Y, McCarthy S, Crawford AA

and 91 more — show all

Bombieri C, Cocca M, Farmaki AE, Gaunt TR, Jousilahti P, Kooijman MN, Lehne B, Malerba G, Männistö S, Matchan A, Medina-Gomez C, Metrustry SJ, Nag A, Ntalla I, Paternoster L, Rayner NW, Sala C, Scott WR, Shihab HA, Southam L, St Pourcain B, Traglia M, Trajanoska K, Zaza G, Zhang W, Artigas MS, Bansal N, Benn M, Chen Z, Danecek P, Lin WY, Locke A, Luan J, Manning AK, Mulas A, Sidore C, Tybjaerg-Hansen A, Varbo A, Zoledziewska M, Finan C, Hatzikotoulas K, Hendricks AE, Kemp JP, Moayyeri A, Panoutsopoulou K, Szpak M, Wilson SG, Boehnke M, Cucca F, Di Angelantonio E, Langenberg C, Lindgren C, McCarthy MI, Morris AP, Nordestgaard BG, Scott RA, Tobin MD, Wareham NJ, Burton P, Chambers JC, Smith GD, Dedoussis G, Felix JF, Franco OH, Gambaro G, Gasparini P, Hammond CJ, Hofman A, Jaddoe VWV, Kleber M, Kooner JS, Perola M, Relton C, Ring SM, Rivadeneira F, Salomaa V, Spector TD, Stegle O, Toniolo D, Uitterlinden AG, Barroso I, Greenwood CMT, Perry JRB, Walker BR, Butterworth AS, Xue Y, Durbin R, Small KS, Soranzo N, Timpson NJ, Zeggini E

SpiroMeta Consortium · GoT2D Consortium · arcOGEN Consortium · Understanding Society Scientific Group · UK10K Consortium

American journal of human genetics · 2017 · PMID 28552196 · open access

Questions about rs4813800

What is rs4813800?

rs4813800 is a single position in the genome, in or near the CASC20 gene. Published research associates it with height. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4813800 linked to?

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

Does having rs4813800 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 rs4813800 come from?

GWAS Catalog, Am J Hum Genet 2017, PMID:28552196. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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