Standard

Vertical cup-disc ratio

SCYL1 · rs17146964

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

1 / 4

Its strongest genetic-study result is p = 10⁻⁸, with 1 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 7,360 European ancestry individuals; replicated in 4,455 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.01 mm2 lower (95% confidence interval 0.01-0.02); p = 4 × 10⁻⁹.

How common The G allele had a frequency of about 20% in the people studied.

Where it sits Chromosome 11, band 11q13.1 — between genes, 4.1 kb from ENEMAL.

How common each version is

AG

Korean KRGDB

A 85.2% · G 14.8%

Korean Korea4K

A 86.0% · G 14.0%

Korean Korea1K

A 86.9% · G 13.1%

Japanese ToMMo

A 83.0% · G 17.0%

World gnomAD

A 82.2% · G 17.8%

World 1000 Genomes

A 84.1% · G 15.9%

World TOPMed

A 81.3% · G 18.7%

By ancestry gnomAD

East Asian

A 84.5% · G 15.5%

European (non-Finnish)

A 80.4% · G 19.6%

African / African American

A 80.6% · G 19.4%

South Asian

A 88.8% · G 11.2%

Admixed American (Latino)

A 85.9% · G 14.1%

Middle Eastern

A 73.8% · G 26.2%

Finnish

A 91.6% · G 8.4%

Ashkenazi Jewish

A 81.2% · G 18.8%

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 No copy of the version the research linked to Vertical cup-disc ratio. This is the starting point the study compared everyone against.

A/G One copy of the version the research linked to Vertical cup-disc ratio. That is a smaller link than two copies.

G/G Two copies of the version the research linked to Vertical cup-disc ratio. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

A genome-wide association study of optic disc parameters

Ramdas WD, van Koolwijk LM, Ikram MK, Jansonius NM, de Jong PT, Bergen AA, Isaacs A, Amin N, Aulchenko YS, Wolfs RC, Hofman A, Rivadeneira F

and 8 more — show all

Oostra BA, Uitterlinden AG, Hysi P, Hammond CJ, Lemij HG, Vingerling JR, Klaver CC, van Duijn CM

PLoS genetics · 2010 · PMID 20548946 · 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

Vertical cup-disc ratio (rs17146964). MyGeneLog™. https://www.mygenelog.com/variants/rs17146964

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