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Color vision defects (Tritan)

AHCYL2 · rs112189569

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 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.

How common each version is

CT

World gnomAD

C 0.3% · T 99.7%

World 1000 Genomes

C 0.1% · T 99.9%

World TOPMed

C 0.4% · T 99.6%

By ancestry gnomAD

European (non-Finnish)

C 0.6% · T 99.4%

African / African American

T 99.9%

South Asian

T 100.0%

Admixed American (Latino)

T 99.8%

Finnish

T 99.9%

Ashkenazi Jewish

C 0.7% · T 99.3%

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. No Korean figure for this position yet.

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

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

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