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Brain cytidine levels

DDOST · rs4704

What the study found

Who was studied 1,016 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.121 lower (95% confidence interval 0.1-0.14); p = 7 × 10−35.

Where it sits Chromosome 1, band 1p36.12 — a synonymous change in DDOST.

What ClinVar records

Classification Benign for Congenital disorder of glycosylation type Ir, Familial cancer of breast; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2026-02-03. ClinVar record 295156 NM_005216.5(DDOST):c.315C>T (p.Gly105=)

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 Brain cytidine 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 Brain cytidine levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to Brain cytidine levels. This is the starting point the study compared everyone against.
Source

Questions about rs4704

What is rs4704?

rs4704 is a single position in the genome, in or near the DDOST gene. Published research associates it with brain cytidine levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs4704 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 rs4704 come from?

GWAS Catalog, Nature genetics 2024, PMID:39528826. 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.

Brain cytidine levels (rs4704). MyGeneLog™. https://www.mygenelog.com/variants/rs4704

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