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Lactosylceramides (FA22:0) (Model 1)

CYB5R3 · rs2071843

What the study found

Who was studied 7,276 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.368 higher; p = 5 × 10−27.

Where it sits Chromosome 22, band 22q13.2 — in an intron of CYB5R3.

What ClinVar records

Classification Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-06-18. ClinVar record 1237214 NM_000398.7(CYB5R3):c.733+259T>C

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 Two copies of the version the research linked to Lactosylceramides (FA22:0) (Model 1). 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 Lactosylceramides (FA22:0) (Model 1). That is a smaller link than two copies.
G/G No copy of the version the research linked to Lactosylceramides (FA22:0) (Model 1). This is the starting point the study compared everyone against.
Source

Questions about rs2071843

What is rs2071843?

rs2071843 is a single position in the genome, in or near the CYB5R3 gene. Published research associates it with lactosylceramides (fa22:0) (model 1). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2071843 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 rs2071843 come from?

GWAS Catalog, Nature communications 2026, PMID:42069741. 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.

Lactosylceramides (FA22:0) (Model 1) (rs2071843). MyGeneLog™. https://www.mygenelog.com/variants/rs2071843

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