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Color vision defects (Tritan)

SORCS2 · rs73206406

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 T allele shifted the measure 0.169 lower (95% confidence interval 0.11-0.22); p = 5 × 10−9.

How common The T allele had a frequency of about 96% in the people studied.

Where it sits Chromosome 4, band 4p16.1 — in an intron of SORCS2.

What each result means

C/C No copy of the version the research linked to Color vision defects (Tritan). This is the starting point the study compared everyone against.
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 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.
Source

Questions about rs73206406

What is rs73206406?

rs73206406 is a single position in the genome, in or near the SORCS2 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 having rs73206406 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 rs73206406 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

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Color vision defects (Tritan) (rs73206406). MyGeneLog™. https://www.mygenelog.com/variants/rs73206406

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