Gene Knowledge Graph
UTC
Standard

Body mass index

ATG4B · rs138274580

Where this position leads

Conditions: Childhood Body Mass Index, Obesity and Body Weight

rs138274580 Condition: Childhood Body Mass Index Childhood Body Mass Index Condition Condition: Obesity and Body Weight Obesity and Body Weight Condition rs138274580 rs138274580 ATG4B

What the study found

Who was studied 507,850 East Asian ancestry individuals, 420,829 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0289 lower (95% confidence interval 0.021-0.037); p = 8 × 10−14.

Where it sits Chromosome 2, band 2q37.3 — a missense change in ATG4B.

What ClinVar records

Classification Uncertain significance; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-11-15. ClinVar record 2261704 NM_013325.5(ATG4B):c.989A>T (p.Asn330Ile)

What this is ClinVar's aggregate record for this position (as of its 2026-09-24 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 Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Body mass index compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Body mass index.
G/G Published research associates this genotype with typical/baseline likelihood of Body mass index — no copies of the reported risk allele.
Source
Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures
Jee YH, Wang Y, Jung KJ, Lee JY, Kimm H, Duan R, Price AL, Martin AR, Kraft P
Nature communications · 2025 · PMID 40436827 · open access

Questions about rs138274580

What is rs138274580?

rs138274580 is a single position in the genome, in or near the ATG4B gene. Published research associates it with body mass index. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs138274580 linked to?

On MyGeneLog this position is linked to Childhood Body Mass Index, Obesity and Body Weight. The research behind each link, and its sources, are set out on that condition page.

Does having rs138274580 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 rs138274580 come from?

GWAS Catalog, Nature communications 2025, PMID:40436827. 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.

Body mass index (rs138274580). MyGeneLog™. https://www.mygenelog.com/variants/rs138274580

← See all variants