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Height

EFEMP1 · rs11899888

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−38, with 15 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

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 0.0575 lower (95% confidence interval 0.04-0.075); p = 1 × 10−10.

How common The A allele had a frequency of about 85% in the people studied.

Where it sits Chromosome 2, band 2p16.1 — in an intron of EFEMP1.

How common each version is

AG
Korean KRGDB
A 100.0% · G 0.0%
Korean Korea4K
A 99.9% · G 0.1%
Japanese ToMMo
A 99.9% · G 0.1%
World gnomAD
A 89.3% · G 10.7%
World 1000 Genomes
A 94.0% · G 6.0%
World TOPMed
A 89.7% · G 10.3%

By ancestry gnomAD

East Asian
A 99.8%
European (non-Finnish)
A 85.1% · G 14.9%
African / African American
A 95.1% · G 4.9%
South Asian
A 94.7% · G 5.3%
Admixed American (Latino)
A 90.9% · G 9.1%
Middle Eastern
A 85.0% · G 15.0%
Finnish
A 87.4% · G 12.6%
Ashkenazi Jewish
A 79.4% · G 20.6%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A Two copies of the version the research linked to Height. 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 Height. That is a smaller link than two copies.
G/G No copy of the version the research linked to Height. This is the starting point the study compared everyone against.
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

Quoting this page

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Height (rs11899888). MyGeneLog™. https://www.mygenelog.com/variants/rs11899888

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