Standard

Primary open angle glaucoma (multi-trait analysis)

ADAMTS6 · rs1363900

Where this position leads

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 at least 29,241 European ancestry cases, at least 350,181 European ancestry controls (MTAG boosted by vertical cup-to-disc ratio and intraocular pressure samples), 6,935 Asian ancestry cases, 39,588 Asian ancestry controls, 3,281 African ancestry cases, 2,791 African ancestry controls.

The effect Each copy of the A allele shifted the measure 0.0626 higher (95% confidence interval 0.042-0.084); p = 5 × 10⁻⁹.

Where it sits Chromosome 5, band 5q12.3 — in an intron of ADAMTS6.

What each result means

A/A Two copies of the version the research linked to Primary open angle glaucoma (multi-trait analysis). 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 Primary open angle glaucoma (multi-trait analysis). That is a smaller link than two copies.

G/G No copy of the version the research linked to Primary open angle glaucoma (multi-trait analysis). This is the starting point the study compared everyone against.

Source

Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci

Han X, Gharahkhani P, Hamel AR, Ong JS, Rentería ME, Mehta P, Dong X, Pasutto F, Hammond C, Young TL, Hysi P, Lotery AJ

and 18 more — show all

Jorgenson E, Choquet H, Hauser M, Cooke Bailey JN, Nakazawa T, Akiyama M, Shiga Y, Fuller ZL, Wang X, Wang X, Hewitt AW, Craig JE, Pasquale LR, Mackey DA, Wiggs JL, Khawaja AP, Segrè AV, MacGregor S

23andMe Research Team · International Glaucoma Genetics Consortium

Nature genetics · 2023 · PMID 37386247 · open access

Questions about rs1363900

What is rs1363900?

rs1363900 is a single position in the genome, in or near the ADAMTS6 gene. Published research associates it with primary open angle glaucoma (multi-trait analysis). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1363900 linked to?

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

Does having rs1363900 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 rs1363900 come from?

GWAS Catalog, Nature genetics 2023, PMID:37386247. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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

Primary open angle glaucoma (multi-trait analysis) (rs1363900). MyGeneLog™. https://www.mygenelog.com/variants/rs1363900

← See all variants