Standard

Height

CASC20 · rs4813800

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

3 / 4

Its strongest genetic-study result is p = 10⁻⁷³, with 3 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 0.0426 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.

How common each version is

AG

Korean KRGDB

A 18.4% · G 81.6%

Korean Korea4K

A 18.6% · G 81.4%

Korean Korea1K

A 17.7% · G 82.3%

Japanese ToMMo

A 13.2% · G 86.8%

Vietnamese

A 19.6% · G 80.4%

World gnomAD

A 35.9% · G 64.1%

World 1000 Genomes

A 33.9% · G 66.1%

World TOPMed

A 35.8% · G 64.2%

By ancestry gnomAD

East Asian

A 16.3% · G 83.7%

European (non-Finnish)

A 36.3% · G 63.7%

African / African American

A 42.2% · G 57.8%

South Asian

A 42.1% · G 57.9%

Admixed American (Latino)

A 25.3% · G 74.7%

Middle Eastern

A 39.8% · G 60.2%

Finnish

A 28.3% · G 71.7%

Ashkenazi Jewish

A 43.4% · G 56.6%

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

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Height (rs4813800). MyGeneLog™. https://www.mygenelog.com/variants/rs4813800

← See all variants