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Dihexosylceramide (d18:1/22:0) levels

ST3GAL5 · rs2280314

What the study found

Who was studied 4,492 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.24 lower (95% confidence interval 0.17-0.31); p = 3 × 10−12.

Where it sits Chromosome 2, band 2p11.2 — in an intron of ST3GAL5.

What ClinVar records

Classification Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2019-01-14. ClinVar record 1179355 NM_003896.4(ST3GAL5):c.850-187C>T

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 Dihexosylceramide (d18:1/22:0) levels. 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 Dihexosylceramide (d18:1/22:0) levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to Dihexosylceramide (d18:1/22:0) levels. This is the starting point the study compared everyone against.
Source

Questions about rs2280314

What is rs2280314?

rs2280314 is a single position in the genome, in or near the ST3GAL5 gene. Published research associates it with dihexosylceramide (d18:1/22:0) levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2280314 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 rs2280314 come from?

GWAS Catalog, Nature communications 2022, PMID:35668104. 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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Dihexosylceramide (d18:1/22:0) levels (rs2280314). MyGeneLog™. https://www.mygenelog.com/variants/rs2280314

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