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Betaine levels

CBS · rs6586281

What the study found

Who was studied 8,809 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.156 higher (95% confidence interval 0.12-0.19); p = 1 × 10−16.

Where it sits Chromosome 21, band 21q22.3 — in an intron of CBS.

What ClinVar records

Classification Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-04-07. ClinVar record 4684434 NM_000071.3(CBS):c.1359-30C>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 Betaine 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 Betaine levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to Betaine levels. This is the starting point the study compared everyone against.
Source

Questions about rs6586281

What is rs6586281?

rs6586281 is a single position in the genome, in or near the CBS gene. Published research associates it with betaine levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs6586281 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 rs6586281 come from?

GWAS Catalog, Metabolites 2022, PMID:35050183. 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.

Betaine levels (rs6586281). MyGeneLog™. https://www.mygenelog.com/variants/rs6586281

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