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Body mass index

SSR4P1 · rs76040172

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.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−16, with 9 associations in the GWAS Catalog.

How this is scored

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 507,850 East Asian ancestry individuals, 420,829 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0219 lower (95% confidence interval 0.017-0.027); p = 1 × 10−16.

Where it sits Chromosome 21, band 21q22.3 — in a non-coding transcript of SSR4P1.

How common each version is

AG

By ancestry gnomAD

East Asian
A 13.1% · G 86.9%
European (non-Finnish)
A 5.2% · G 94.8%
African / African American
A 2.3% · G 97.7%
South Asian
A 6.9% · G 93.2%
Admixed American (Latino)
A 3.0% · G 97.0%
Middle Eastern
A 1.4% · G 98.7%
Finnish
A 9.2% · G 90.8%
Ashkenazi Jewish
A 4.2% · G 95.8%

The share of all copies of this position that are each version. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A Two copies of the version the research linked to Body mass index. 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 Body mass index. That is a smaller link than two copies.
G/G No copy of the version the research linked to Body mass index. This is the starting point the study compared everyone against.
DNA databases also record a third, rare version at this position, carried on fewer than one in a hundred copies of the DNA. The three results above cover the two common versions only.
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

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Body mass index (rs76040172). MyGeneLog™. https://www.mygenelog.com/variants/rs76040172

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