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Mean corpuscular haemoglobin (UKB data field 30050)

TMPRSS6 · rs145814440

Where this position leads

Condition: Celiac Disease

rs145814440 Condition: Celiac Disease Celiac Disease Condition rs145814440 rs145814440 TMPRSS6

What the study found

Who was studied 394,642 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0719 higher (95% confidence interval 0.053-0.091); p = 4 × 10−14.

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

Where it sits Chromosome 22, band 22q12.3 — a synonymous change in TMPRSS6.

What ClinVar records

Classification Benign/Likely benign for Microcytic anemia; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2026-03-01. ClinVar record 782755 NM_001374504.1(TMPRSS6):c.1800C>T (p.Asp600=)

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

A/A Two copies of the version the research linked to Mean corpuscular haemoglobin (UKB data field 30050). 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 Mean corpuscular haemoglobin (UKB data field 30050). That is a smaller link than two copies.
G/G No copy of the version the research linked to Mean corpuscular haemoglobin (UKB data field 30050). This is the starting point the study compared everyone against.
Source

Questions about rs145814440

What is rs145814440?

rs145814440 is a single position in the genome, in or near the TMPRSS6 gene. Published research associates it with mean corpuscular haemoglobin (ukb data field 30050). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs145814440 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 rs145814440 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 rs145814440 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.

Mean corpuscular haemoglobin (UKB data field 30050) (rs145814440). MyGeneLog™. https://www.mygenelog.com/variants/rs145814440

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