Standard

Concentration of medium HDL particles

IDUA · rs11248061

Where this position leads

Condition: Cholesterol (LDL, HDL and Total)

What the study found

Who was studied 434,646 British ancestry individuals, 8,796 British Central/South Asian individuals, 6,573 British African individuals.

The effect Each copy of the A allele shifted the measure 0.01 mmol/L higher (95% confidence interval 0.01-0.01); p = 3 × 10⁻¹².

Where it sits Chromosome 4, band 4p16.3 — a synonymous change in SLC26A1.

What ClinVar records

Classification Benign for Mucopolysaccharidosis type 1; reviewed by expert panel (3 of 4 stars, 14 submitters), last evaluated 2025-01-02. ClinVar record 92638 NM_000203.5(IDUA):c.24C>A (p.Ala8=)

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 Concentration of medium HDL particles. That is the strongest link of the three results. A link in a study is not a diagnosis.

A/C One copy of the version the research linked to Concentration of medium HDL particles. That is a smaller link than two copies.

C/C No copy of the version the research linked to Concentration of medium HDL particles. This is the starting point the study compared everyone against.

Source

A genetic map of human metabolism across the allele frequency spectrum

Zoodsma M, Beuchel C, Yasmeen S, Kohleick L, Nepal A, Koprulu M, Kronenberg F, Mayr M, Williamson A, Pietzner M, Langenberg C

Nature genetics · 2025 · PMID 41044249 · open access

Questions about rs11248061

What is rs11248061?

rs11248061 is a single position in the genome, in or near the IDUA gene. Published research associates it with concentration of medium hdl particles. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs11248061 linked to?

On MyGeneLog this position is linked to Cholesterol (LDL, HDL and Total). The research behind each link, and its sources, are set out on that condition page.

Does having rs11248061 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 rs11248061 come from?

GWAS Catalog, Nature genetics 2025, PMID:41044249. 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.

Concentration of medium HDL particles (rs11248061). MyGeneLog™. https://www.mygenelog.com/variants/rs11248061

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