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Carnitine levels

SLC36A2 · rs77010315

What the study found

Who was studied 31,001 Caucasian ancestry individuals.

The effect Each copy of the C allele shifted the measure 13.2 (zscore) higher; p = 2 × 10−39.

How common The C allele had a frequency of about 99% in the people studied.

Where it sits Chromosome 5, band 5q33.1 — a missense change in SLC36A2.

What ClinVar records

Classification Conflicting classifications of pathogenicity for Hyperglycinuria, Iminoglycinuria; criteria provided, conflicting classifications (1 of 4 stars, 6 submitters), last evaluated 2026-01-05. ClinVar record 2384 NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val)

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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 No copy of the version the research linked to Carnitine levels. This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to Carnitine levels. That is a smaller link than two copies.
C/C Two copies of the version the research linked to Carnitine levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs77010315

What is rs77010315?

rs77010315 is a single position in the genome, in or near the SLC36A2 gene. Published research associates it with carnitine levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs77010315 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 rs77010315 come from?

GWAS Catalog, Nature genetics 2021, PMID:33414548. 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.

Carnitine levels (rs77010315). MyGeneLog™. https://www.mygenelog.com/variants/rs77010315

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