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Pulse pressure

COL4A1 · rs13260

What the study found

Who was studied 365,998 European ancestry individuals, 63,490 African ancestry individuals, 22,802 Hispanic individuals, 4,792 Asian ancestry individuals, 2,695 Native American ancestry individuals; replicated in 299,024 European ancestry individuals, 17,277 individuals.

The effect Each copy of the T allele shifted the measure 0.255 mmHg higher (95% confidence interval 0.18-0.33); p = 2 × 10−10.

How common The T allele had a frequency of about 13% in the people studied.

Where it sits Chromosome 13, band 13q34 — in the 3′ untranslated region of COL4A1.

What ClinVar records

Classification Benign for Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-01-13. ClinVar record 311011 NM_001845.6(COL4A1):c.*587C>A

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 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

G/G No copy of the version the research linked to Pulse pressure. This is the starting point the study compared everyone against.
G/T One copy of the version the research linked to Pulse pressure. That is a smaller link than two copies.
T/T 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.
Source

Questions about rs13260

What is rs13260?

rs13260 is a single position in the genome, in or near the COL4A1 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 rs13260 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 rs13260 come from?

GWAS Catalog, Nature genetics 2019, PMID:30578418. 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 (rs13260). MyGeneLog™. https://www.mygenelog.com/variants/rs13260

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