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Pulse pressure

FN1 · rs1250259

What the study found

Who was studied 1,028,980 European ancestry individuals; replicated in 62,047 African ancestry individuals, 21,843 African American individuals.

The effect Each copy of the A allele shifted the measure 0.278 lower (95% confidence interval 0.23-0.32); p = 8 × 10−35.

Where it sits Chromosome 2, band 2q35 — a missense change in FN1.

What ClinVar records

Classification Benign for Spondyloepimetaphyseal dysplasia, Strudwick type, Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 9 submitters), last evaluated 2026-02-04. ClinVar record 801895 NM_212482.4(FN1):c.44A>T (p.Gln15Leu)

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.

What each result means

A/A Two copies of the version the research linked to Pulse pressure. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/T One copy of the version the research linked to Pulse pressure. That is a smaller link than two copies.
T/T No copy of the version the research linked to Pulse pressure. This is the starting point the study compared everyone against.
Source

Questions about rs1250259

What is rs1250259?

rs1250259 is a single position in the genome, in or near the FN1 gene. Published research associates it with pulse pressure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1250259 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 rs1250259 come from?

GWAS Catalog, Nature genetics 2024, PMID:38689001. 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.

Pulse pressure (rs1250259). MyGeneLog™. https://www.mygenelog.com/variants/rs1250259

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