Sensitive

Unspecified diffuse connective tissue disease (PheCode 709.7)

KCNMB2 · rs189923567

Where this position leads

Condition: Unspecified Diffuse Connective Tissue Disease

rs189923567 Condition: Unspecified Diffuse Connective Tissue Disease Unspecified Diffuse Connective Tiss… Condition rs189923567 rs189923567 KCNMB2

What the study found

Who was studied 290 African American or Afro-Caribbean cases, 121,440 African American or Afro-Caribbean controls, 430 European ancestry cases, 450,463 European ancestry controls.

The effect Each copy of the C allele shifted the measure 3.7 lower (95% confidence interval 3.68-3.71); p = 4 × 10−13.

How common The C allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 3, band 3q26.32 — in an intron of KCNMB2.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Unspecified diffuse connective tissue disease (PheCode 709.7) compared to the general population.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Unspecified diffuse connective tissue disease (PheCode 709.7).
T/T Published research associates this genotype with typical/baseline likelihood of Unspecified diffuse connective tissue disease (PheCode 709.7) — no copies of the reported risk allele.
Source

Questions about rs189923567

What is rs189923567?

rs189923567 is a single position in the genome, in or near the KCNMB2 gene. Published research associates it with unspecified diffuse connective tissue disease (phecode 709.7). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs189923567 linked to?

On MyGeneLog this position is linked to Unspecified Diffuse Connective Tissue Disease. The research behind each link, and its sources, are set out on that condition page.

Does having rs189923567 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 rs189923567 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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.

Unspecified diffuse connective tissue disease (PheCode 709.7) (rs189923567). MyGeneLog™. https://www.mygenelog.com/variants/rs189923567

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