NDUFV3 · rs4148974
Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 155,998 European ancestry individuals, 2,138 African American or Afro-Caribbean individuals, 381 Hispanic or Latin American individuals, 3,326 Central Asian ancestry individuals, 958 East Asian ancestry individuals, 571 Greater Middle Eastern (Middle Eastern, North African or Persian) individuals.
The effect Each copy of the C allele shifted the measure 0.109 higher (95% confidence interval 0.094-0.123); p = 5 × 10−48.
How common The C allele had a frequency of about 94% in the people studied.
Where it sits Chromosome 21, band 21q22.3 — a stop-gain change in NDUFV3.
What ClinVar records
Classification
Benign for NDUFV3-related disorder; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2019-04-30.
ClinVar record 3059190 NM_021075.4(NDUFV3):c.598C>T (p.Arg200Ter)
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.
rs4148974 is a single position in the genome, in or near the NDUFV3 gene. Published research associates it with mitochondrial dna copy number (adjusted). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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 2023, PMID:37587338. 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.
Mitochondrial DNA copy number (adjusted) (rs4148974). MyGeneLog™. https://www.mygenelog.com/variants/rs4148974