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Haemoglobin concentration (UKB data field 30020)

PRKCE · rs56336893

Where this position leads

Condition: Celiac Disease

rs56336893 Condition: Celiac Disease Celiac Disease Condition rs56336893 rs56336893 PRKCE

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−20, 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 394,642 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0435 lower (95% confidence interval 0.034-0.053); p = 2 × 10−20.

How common The C allele had a frequency of about 3% in the people studied.

Where it sits Chromosome 2, band 2p21 — in an intron of PRKCE.

How common each version is

CT
Korean KRGDB
C 17.5% · T 82.5%
Korean Korea4K
C 15.9% · T 84.1%
Japanese ToMMo
C 16.9% · T 83.1%
Vietnamese
C 14.0% · T 86.0%
World gnomAD
C 5.1% · T 94.9%
World 1000 Genomes
C 9.8% · T 90.2%
World TOPMed
C 5.0% · T 95.0%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

C/C Two copies of the version the research linked to Haemoglobin concentration (UKB data field 30020). 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 Haemoglobin concentration (UKB data field 30020). That is a smaller link than two copies.
T/T No copy of the version the research linked to Haemoglobin concentration (UKB data field 30020). This is the starting point the study compared everyone against.
Source

Questions about rs56336893

What is rs56336893?

rs56336893 is a single position in the genome, in or near the PRKCE gene. Published research associates it with haemoglobin concentration (ukb data field 30020). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs56336893 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 rs56336893 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 rs56336893 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

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Haemoglobin concentration (UKB data field 30020) (rs56336893). MyGeneLog™. https://www.mygenelog.com/variants/rs56336893

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