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SPINK4 protein levels

TOPORS · rs553815483

Where this position leads

Condition: Celiac Disease

rs553815483 Condition: Celiac Disease Celiac Disease Condition rs553815483 rs553815483 TOPORS

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.374 higher (95% confidence interval 0.26-0.49); p = 1 × 10−12.

How common The C allele had a frequency of about 0% in the people studied.

Where it sits Chromosome 9, band 9p21.1 — in an intron of TOPORS.

What each result means

C/C Two copies of the version the research linked to SPINK4 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to SPINK4 protein levels. That is a smaller link than two copies.
T/T No copy of the version the research linked to SPINK4 protein levels. This is the starting point the study compared everyone against.
Source

Questions about rs553815483

What is rs553815483?

rs553815483 is a single position in the genome, in or near the TOPORS gene. Published research associates it with spink4 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 rs553815483 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 rs553815483 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 rs553815483 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

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SPINK4 protein levels (rs553815483). MyGeneLog™. https://www.mygenelog.com/variants/rs553815483

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