NT5C2 · rs12220375
Where this position leads
Condition: Birth Weight
Strength of the evidence
Its strongest genetic-study result is p = 10−8, with 1 associations in the GWAS Catalog.
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied up to 182,902 European ancestry individuals.
The effect Each copy of the T allele shifted the measure 0.0382 lower (95% confidence interval 0.025-0.052); p = 3 × 10−8.
How common The T allele had a frequency of about 92% in the people studied.
Where it sits Chromosome 10, band 10q24.33 — in an intron of NT5C2.
rs12220375 is a single position in the genome, in or near the NT5C2 gene. Published research associates it with birth weight (mtag). 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 Birth Weight. 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, Frontiers in genetics 2019, PMID:31681408. 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.
Birth weight (MTAG) (rs12220375). MyGeneLog™. https://www.mygenelog.com/variants/rs12220375