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KIT protein levels

KIT · rs115028437

Where this position leads

Condition: Celiac Disease

rs115028437 Condition: Celiac Disease Celiac Disease Condition rs115028437 rs115028437 KIT

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.199 higher (95% confidence interval 0.14-0.26); p = 2 × 10−12.

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

Where it sits Chromosome 4, band 4q12 — in the 3′ untranslated region of KIT.

What ClinVar records

Classification Benign/Likely benign for Gastrointestinal stromal tumor, Piebaldism, Mastocytosis; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-01-13. ClinVar record 902287 NM_000222.3(KIT):c.*2017T>C

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

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 rs115028437

What is rs115028437?

rs115028437 is a single position in the genome, in or near the KIT 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 rs115028437 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 rs115028437 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 rs115028437 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 (rs115028437). MyGeneLog™. https://www.mygenelog.com/variants/rs115028437

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