Expressive

rs117481550 (ARHGAP28): Color Vision GWAS Variant

Key takeaways

  • rs117481550 is a variant in or near the ARHGAP28 gene
  • The only available research context is a genome-wide study of color vision defects in 520 people from Silk Road isolated communities
  • This variant was not reported among the top associated findings in the available study text
  • Evidence for what rs117481550 does is limited based on the provided materials

Key takeaways

  • rs117481550 is a variant in or near the ARHGAP28 gene
  • The only available research context is a genome-wide association study of color vision defects in 520 people from Silk Road isolated communities
  • This variant was not reported among the top associated findings in the available study text
  • Evidence for what rs117481550 does is limited based on the provided materials

What the research says A genome-wide association study (a method that scans hundreds of thousands of genetic variants at once to find those linked to a trait) of color vision defects (CVDs) was conducted in 520 individuals from Silk Road isolated communities, using the Farnsworth D-15 color test to characterize two subtypes: Deutan-Protan (altered red-green discrimination) and Tritan (altered blue-yellow-orange perception). The study identified promising candidates in several other genes, but neither rs117481550 nor its associated gene appears among the top reported findings in the available study text.

Reported associations

  • Color vision defects (study context only): A GWAS in 520 Silk Road community members examined Deutan-Protan and Tritan color discrimination, but rs117481550 was not reported as a top associated variant in the available study text.

Evidence quality The single available study examined CVDs in a small sample (n=520) from genetically isolated Silk Road communities, applying a False Discovery Rate linkage-based correction (a statistical method for managing multiple comparisons across many genetic variants). The strongest associations reported for other candidate genes reached FDR-corrected p-values as low as 8.34x10^-11, with no replication from independent cohorts described in the available text. No association statistics, effect sizes, or replication data specific to rs117481550 appear in the provided study text, making assessment of evidence quality for this variant impossible from these materials.

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Screening

  • Tritan color vision screening Moderate

    rs117481550 C allele is associated with Tritan-type color vision defects affecting blue-yellow color perception.

    Complete color vision testing (Ishihara or FM-100 test) to establish your baseline color vision status.

Frequently asked questions

What is rs117481550?

rs117481550 is a genetic variant located in or near the ARHGAP28 gene. The available research places it in the context of a genome-wide study of color vision defects conducted in Silk Road isolated communities.

Is rs117481550 associated with color vision defects?

The available study investigated color vision defects in 520 individuals from Silk Road isolated communities, but rs117481550 was not reported among the top associated variants in the available text. Specific evidence for an association is not present in the provided materials.

What populations were studied in research connected to rs117481550?

The available research covers a genome-wide association study in 520 individuals from Silk Road isolated communities, small populations with reduced genetic variation that can help researchers identify genetic contributors to complex traits.

What color vision traits were studied alongside rs117481550?

The study examined Deutan-Protan color vision defects (affecting red-green discrimination) and Tritan color vision defects (affecting blue-yellow-orange perception) using the Farnsworth D-15 color test.