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KIT protein levels

ANKRD11 · rs117984432

Where this position leads

Condition: Celiac Disease

rs117984432 Condition: Celiac Disease Celiac Disease Condition rs117984432 rs117984432 ANKRD11

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, with 2 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0916 lower (95% confidence interval 0.063-0.12); p = 4 × 10−12.

How common The C allele had a frequency of about 4% in the people studied.

Where it sits Chromosome 16, band 16q24.3 — in an intron of ANKRD11.

What each result means

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

Questions about rs117984432

What is rs117984432?

rs117984432 is a single position in the genome, in or near the ANKRD11 gene. Published research associates it with kit 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 rs117984432 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 rs117984432 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 rs117984432 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.

KIT protein levels (rs117984432). MyGeneLog™. https://www.mygenelog.com/variants/rs117984432

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