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CTSB protein levels

near DEFB136 · rs182060050

Where this position leads

Condition: Celiac Disease

rs182060050 Condition: Celiac Disease Celiac Disease Condition rs182060050 rs182060050 near DEFB136

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.124 lower (95% confidence interval 0.083-0.165); p = 2 × 10−12.

How common The A allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 8, band 8p23.1 — between genes, 3.9 kb from DEFB136.

What each result means

A/A Two copies of the version the research linked to CTSB protein levels. 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 CTSB protein levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to CTSB protein levels. This is the starting point the study compared everyone against.
Source

Questions about rs182060050

What is rs182060050?

rs182060050 is a single position in the genome, in or near the near DEFB136 gene. Published research associates it with ctsb protein levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs182060050 linked to?

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

Does having rs182060050 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 rs182060050 come from?

GWAS Catalog, Nature genetics 2025, PMID:39789286. 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.

CTSB protein levels (rs182060050). MyGeneLog™. https://www.mygenelog.com/variants/rs182060050

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