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Serum metabolite levels

CPT2 · rs1799822

What the study found

Who was studied 3,926 Hispanic/Latino individuals.

The effect Each copy of the A allele shifted the measure 0.219 higher (95% confidence interval 0.16-0.28); p = 4 × 10−12.

How common The A allele had a frequency of about 85% in the people studied.

Where it sits Chromosome 1, band 1p32.3 — a missense change in CPT2.

What ClinVar records

Classification Benign for Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, severe infantile form; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 13 submitters), last evaluated 2026-02-04. ClinVar record 92433 NM_000098.3(CPT2):c.1939A>G (p.Met647Val)

What this is ClinVar's aggregate record for this position (as of its 2026-09-24 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 Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Serum metabolite levels compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Serum metabolite levels.
G/G Published research associates this genotype with typical/baseline likelihood of Serum metabolite levels — no copies of the reported risk allele.
Source

Questions about rs1799822

What is rs1799822?

rs1799822 is a single position in the genome, in or near the CPT2 gene. Published research associates it with serum metabolite levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1799822 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 rs1799822 come from?

GWAS Catalog, Am J Hum Genet 2020, PMID:33031748. 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.

Serum metabolite levels (rs1799822). MyGeneLog™. https://www.mygenelog.com/variants/rs1799822

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