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Diabetic retinopathy (PheCode 250.7)

UBE3C · rs1182443

Where this position leads

Condition: Diabetic Retinopathy

rs1182443 Condition: Diabetic Retinopathy Diabetic Retinopathy Condition rs1182443 rs1182443 UBE3C

What the study found

Who was studied 11,781 African American or Afro-Caribbean cases, 103,431 African American or Afro-Caribbean controls, 5,658 Hispanic or Latin American cases, 51,648 Hispanic or Latin American controls, 483 East Asian ancestry cases, 6,078 East Asian ancestry controls, 29,668 European ancestry cases, 402,541 European ancestry controls.

The effect Each copy of the A allele shifted the measure 0.0659 lower (95% confidence interval 0.049-0.083); p = 5 × 10−12.

How common The A allele had a frequency of about 28% in the people studied.

Where it sits Chromosome 7, band 7q36.3 — in an intron of UBE3C.

What each result means

A/A Two copies of the version the research linked to Diabetic retinopathy (PheCode 250.7). 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 Diabetic retinopathy (PheCode 250.7). That is a smaller link than two copies.
G/G No copy of the version the research linked to Diabetic retinopathy (PheCode 250.7). This is the starting point the study compared everyone against.
Source

Questions about rs1182443

What is rs1182443?

rs1182443 is a single position in the genome, in or near the UBE3C gene. Published research associates it with diabetic retinopathy (phecode 250.7). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1182443 linked to?

On MyGeneLog this position is linked to Diabetic Retinopathy. The research behind each link, and its sources, are set out on that condition page.

Does having rs1182443 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 rs1182443 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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.

Diabetic retinopathy (PheCode 250.7) (rs1182443). MyGeneLog™. https://www.mygenelog.com/variants/rs1182443

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