Gene Knowledge Graph
UTC
Standard

Color vision defects (Tritan)

AHCYL2 · rs112189569

Where this position leads

Drug: Fenofibrate

rs112189569 Drug: Fenofibrate Fenofibrate Drug rs112189569 rs112189569 AHCYL2

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 12 Silk Road (founder/genetic isolate) cases, 508 Silk Road (founder/genetic isolate) controls.

The effect Each copy of the C allele shifted the measure 0.189 lower (95% confidence interval 0.13-0.25); p = 2 × 10−8.

How common The C allele had a frequency of about 98% in the people studied.

Where it sits Chromosome 7, band 7q32.1 — in an intron of AHCYL2.

What each result means

C/C Two copies of the version the research linked to Color vision defects (Tritan). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Color vision defects (Tritan). That is a smaller link than two copies.
T/T No copy of the version the research linked to Color vision defects (Tritan). This is the starting point the study compared everyone against.
Source
Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations
Nardone GG, Spedicati B, Concas MP, Santin A, Morgan A, Mazzetto L, Battaglia-Parodi M, Girotto G
Frontiers in genetics · 2023 · PMID 37359372 · open access

Questions about rs112189569

What is rs112189569?

rs112189569 is a single position in the genome, in or near the AHCYL2 gene. Published research associates it with color vision defects (tritan). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does rs112189569 affect how medicines work?

AHCYL2 carries pharmacogenomic findings for Fenofibrate. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

Does having rs112189569 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 rs112189569 come from?

GWAS Catalog, Frontiers in genetics 2023, PMID:37359372. 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

Color vision defects (Tritan) (rs112189569). MyGeneLog™. https://www.mygenelog.com/variants/rs112189569

← See all variants