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Color vision defects (Deutan-Protan)

LINC01500 · rs117992346

What the study found

Who was studied 31 Silk Road (founder/genetic isolate) cases, 483 Silk Road (founder/genetic isolate) controls.

The effect Each copy of the A allele shifted the measure 0.436 lower (95% confidence interval 0.31-0.56); p = 6 × 10−11.

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

Where it sits Chromosome 14, band 14q23.1 — in an intron of LINC01500.

What each result means

A/A Two copies of the version the research linked to Color vision defects (Deutan-Protan). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Color vision defects (Deutan-Protan). That is a smaller link than two copies.
G/G No copy of the version the research linked to Color vision defects (Deutan-Protan). This is the starting point the study compared everyone against.
Source

Questions about rs117992346

What is rs117992346?

rs117992346 is a single position in the genome, in or near the LINC01500 gene. Published research associates it with color vision defects (deutan-protan). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs117992346 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 rs117992346 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 (Deutan-Protan) (rs117992346). MyGeneLog™. https://www.mygenelog.com/variants/rs117992346

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