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Hypo-HDL-cholesterolemia

AKT1 · rs2494746

Where this position leads

Condition: Hypo-HDL-Cholesterolemia

What the study found

Who was studied 14,320 Korean ancestry cases, 36,488 Korean ancestry controls.

The effect The reported allele is C; the catalogue records no effect size ; p = 2 × 10⁻¹¹.

Where it sits Chromosome 14, band 14q32.33 — in an intron of AKT1.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hypo-HDL-cholesterolemia compared to the general population.

C/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Hypo-HDL-cholesterolemia.

G/G Published research associates this genotype with typical/baseline likelihood of Hypo-HDL-cholesterolemia — no copies of the reported risk allele.

Source

Lifestage Sex-Specific Genetic Effects on Metabolic Disorders in an Adult Population in Korea: The Korean Genome and Epidemiology Study

Kim YS, Park YC, Choi JE, Park JM, Han K, Kim K, Kim BT, Hong KW

International journal of molecular sciences · 2022 · PMID 36233190 · open access

Questions about rs2494746

What is rs2494746?

rs2494746 is a single position in the genome, in or near the AKT1 gene. Published research associates it with hypo-hdl-cholesterolemia. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2494746 linked to?

On MyGeneLog this position is linked to Hypo-HDL-Cholesterolemia. The research behind each link, and its sources, are set out on that condition page.

Does having rs2494746 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 rs2494746 come from?

GWAS Catalog, International journal of molecular sciences 2022, PMID:36233190. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Hypo-HDL-cholesterolemia (rs2494746). MyGeneLog™. https://www.mygenelog.com/variants/rs2494746

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