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Color vision defects (Tritan)

near NPTN · rs192430987

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 0.243 lower (95% confidence interval 0.18-0.31); p = 4 × 10−12.

How common The C allele had a frequency of about 97% in the people studied.

Where it sits Chromosome 15, band 15q24.1 — between genes, 6.7 kb from NPTN.

What each result means

A/A No copy of the version the research linked to Color vision defects (Tritan). This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to Color vision defects (Tritan). That is a smaller link than two copies.
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.
Source

Questions about rs192430987

What is rs192430987?

rs192430987 is a single position in the genome, in or near the near NPTN 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 rs192430987 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 rs192430987 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

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Color vision defects (Tritan) (rs192430987). MyGeneLog™. https://www.mygenelog.com/variants/rs192430987

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