Standard

Adult body size

ZMIZ1 · rs1250597

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 = 10⁻⁹, with 1 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 453,169 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.00854 lower (95% confidence interval 0.0058-0.0113); p = 1 × 10⁻⁹.

How common The A allele had a frequency of about 41% in the people studied.

Where it sits Chromosome 10, band 10q22.3 — in an intron of ZMIZ1.

What each result means

A/A Two copies of the version the research linked to Adult body size. 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 Adult body size. That is a smaller link than two copies.

G/G No copy of the version the research linked to Adult body size. This is the starting point the study compared everyone against.

Source

Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study

Richardson TG, Sanderson E, Elsworth B, Tilling K, Davey Smith G

BMJ (Clinical research ed.) · 2020 · PMID 32376654 · open access

Questions about rs1250597

What is rs1250597?

rs1250597 is a single position in the genome, in or near the ZMIZ1 gene. Published research associates it with adult body size. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1250597 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 rs1250597 come from?

GWAS Catalog, BMJ (Clinical research ed.) 2020, PMID:32376654. 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.

Adult body size (rs1250597). MyGeneLog™. https://www.mygenelog.com/variants/rs1250597

← See all variants