Standard

SPINK4 protein levels

SPINK4 · rs138047894

Where this position leads

Condition: Celiac Disease

rs138047894 Condition: Celiac Disease Celiac Disease Condition rs138047894 rs138047894 SPINK4

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.278 lower (95% confidence interval 0.19-0.36); p = 1 × 10−12.

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

Where it sits Chromosome 9, band 9p13.3 — in an intron of SPINK4.

What each result means

A/A 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.
A/G One copy of the version the research linked to SPINK4 protein levels. That is a smaller link than two copies.
G/G 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 rs138047894

What is rs138047894?

rs138047894 is a single position in the genome, in or near the SPINK4 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 rs138047894 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 rs138047894 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 rs138047894 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.

SPINK4 protein levels (rs138047894). MyGeneLog™. https://www.mygenelog.com/variants/rs138047894

← See all variants