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Weight

ATXN2L · rs8062405

Where this position leads

Condition: Obesity and Body Weight

rs8062405 Condition: Obesity and Body Weight Obesity and Body Weight Condition rs8062405 rs8062405 ATXN2L

What the study found

Who was studied 1,249 whole genome sequenced European ancestry individuals, 3,559 whole genome sequenced individuals, 46,819 European ancestry individuals, 472 Carlantino (founder/genetic isolate) individuals, 1,172 Friuli Venezia Giulia (founder/genetic isolate) individuals, 1,051 Mylopotamos (founder/genetic isolate) individuals, 942 Pomak (founder/genetic isolate) individuals, 1,779 Val Borbera (founder/genetic isolate) individuals; replicated in 179,022 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0365 lower (95% confidence interval 0.024-0.049); p = 2 × 10−8.

How common The A allele had a frequency of about 61% in the people studied.

Where it sits Chromosome 16, band 16p11.2 — in an intron of ATXN2L.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Weight compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Weight.
G/G Published research associates this genotype with typical/baseline likelihood of Weight — 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 rs8062405

What is rs8062405?

rs8062405 is a single position in the genome, in or near the ATXN2L gene. Published research associates it with weight. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs8062405 linked to?

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

Does having rs8062405 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 rs8062405 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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