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Haematocrit percentage (UKB data field 30030)

SLC18A1 · rs147972269

Where this position leads

Condition: Celiac Disease

rs147972269 Condition: Celiac Disease Celiac Disease Condition rs147972269 rs147972269 SLC18A1

What the study found

Who was studied 394,642 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0829 higher (95% confidence interval 0.058-0.108); p = 8 × 10−12.

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

Where it sits Chromosome 8, band 8p21.3 — in an intron of SLC18A1.

What each result means

C/C Two copies of the version the research linked to Haematocrit percentage (UKB data field 30030). 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 Haematocrit percentage (UKB data field 30030). That is a smaller link than two copies.
T/T No copy of the version the research linked to Haematocrit percentage (UKB data field 30030). This is the starting point the study compared everyone against.
Source

Questions about rs147972269

What is rs147972269?

rs147972269 is a single position in the genome, in or near the SLC18A1 gene. Published research associates it with haematocrit percentage (ukb data field 30030). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs147972269 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 rs147972269 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 rs147972269 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.

Haematocrit percentage (UKB data field 30030) (rs147972269). MyGeneLog™. https://www.mygenelog.com/variants/rs147972269

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