GMPS · rs61750370
Where this position leads
Condition: Blood Metabolite Levels
What the study found
Who was studied 2,076 European ancestry individuals; replicated in 1,528 European ancestry individuals.
The effect Each copy of the C allele shifted the measure 0.78 higher; p = 9 × 10−10.
How common The C allele had a frequency of about 1% in the people studied.
Where it sits Chromosome 3, band 3q25.31 — a missense change in GMPS.
What ClinVar records
Classification
Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-06-18.
ClinVar record 769281 NM_003875.3(GMPS):c.1583A>C (p.Tyr528Ser)
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.
rs61750370 is a single position in the genome, in or near the GMPS gene. Published research associates it with blood metabolite levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Blood Metabolite Levels. The research behind each link, and its sources, are set out on that condition page.
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.
GWAS Catalog, Nature communications 2016, PMID:27453504. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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.
Blood metabolite levels (rs61750370). MyGeneLog™. https://www.mygenelog.com/variants/rs61750370