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Corneal structure

ADAMTS6 · rs2307121

Where this position leads

Condition: Central Corneal Thickness

rs2307121 Condition: Central Corneal Thickness Central Corneal Thickness Condition rs2307121 rs2307121 ADAMTS6

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−16, with 2 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 13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.09 higher (95% confidence interval 0.07-0.11); p = 6 × 10−11.

How common The T allele had a frequency of about 34% in the people studied.

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

How common each version is

CT
Korean KRGDB
C 84.1% · T 15.9%
Korean Korea4K
C 84.3% · T 15.7%
Korean Korea1K
C 83.0% · T 17.0%
Japanese ToMMo
C 85.8% · T 14.2%
Vietnamese
C 80.5% · T 19.5%
World gnomAD
C 72.9% · T 27.1%
World 1000 Genomes
C 76.5% · T 23.5%
World TOPMed
C 74.5% · T 25.5%

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.

What each result means

C/C No copy of the version the research linked to Corneal structure. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Corneal structure. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Corneal structure. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs2307121

What is rs2307121?

rs2307121 is a single position in the genome, in or near the ADAMTS6 gene. Published research associates it with corneal structure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2307121 linked to?

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

Does having rs2307121 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 rs2307121 come from?

GWAS Catalog, Nat Genet 2013, PMID:23291589. 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

Corneal structure (rs2307121). MyGeneLog™. https://www.mygenelog.com/variants/rs2307121

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