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Cerebrospinal fluid dimethylglycine levels

DMGDH · rs145258663

What the study found

Who was studied 2,602 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.257 higher (95% confidence interval 0.19-0.32); p = 9 × 10−16.

Where it sits Chromosome 5, band 5q14.1 — a missense change in DMGDH.

What ClinVar records

Classification Benign/Likely benign for DMGDH-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2022-03-01. ClinVar record 377777 NM_013391.3(DMGDH):c.898C>T (p.Leu300Phe)

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

Questions about rs145258663

What is rs145258663?

rs145258663 is a single position in the genome, in or near the DMGDH gene. Published research associates it with cerebrospinal fluid dimethylglycine levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs145258663 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 rs145258663 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

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Cerebrospinal fluid dimethylglycine levels (rs145258663). MyGeneLog™. https://www.mygenelog.com/variants/rs145258663

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