Standard

Systolic blood pressure

TBX2 · rs2240736

Where this position leads

Condition: Blood Pressure

rs2240736 Condition: Blood Pressure Blood Pressure Condition rs2240736 rs2240736 TBX2

What the study found

Who was studied 295,529 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 2,029 African British individuals, 7,701 East Asian ancestry individuals, 2,735 South Asian ancestry individuals, 1,979 mixed and unknown ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.286 lower; p = 1 × 10−10.

Where it sits Chromosome 17, band 17q23.2 — in an intron of TBX2-AS1.

What ClinVar records

Classification Benign for Vertebral anomalies and variable endocrine and T-cell dysfunction; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2021-07-15. ClinVar record 1334936 NM_005994.4(TBX2):c.1687-22C>T

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

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

Questions about rs2240736

What is rs2240736?

rs2240736 is a single position in the genome, in or near the TBX2 gene. Published research associates it with systolic blood pressure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2240736 linked to?

On MyGeneLog this position is linked to Blood Pressure. The research behind each link, and its sources, are set out on that condition page.

Does having rs2240736 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 rs2240736 come from?

GWAS Catalog, Nature genetics 2017, PMID:27841878. 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.

Systolic blood pressure (rs2240736). MyGeneLog™. https://www.mygenelog.com/variants/rs2240736

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