Gene Knowledge Graph
UTC
Sensitive

Diverticular disease

near COL6A1 · rs9983489

Where this position leads

Condition: Diverticular Disease

rs9983489 Condition: Diverticular Disease Diverticular Disease Condition rs9983489 rs9983489 near COL6A1

What the study found

Who was studied 56,355 European ancestry cases, 398,413 European ancestry controls.

The effect Each copy of the C allele shifted the measure 0.05 higher (95% confidence interval 0.038-0.062); p = 5 × 10−23.

How common The C allele had a frequency of about 38% in the people studied.

Where it sits Chromosome 21, band 21q22.3 — between genes, 11.3 kb from COL6A1.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Diverticular disease compared to the general population.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Diverticular disease.
T/T Published research associates this genotype with typical/baseline likelihood of Diverticular disease — no copies of the reported risk allele.
Source
150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility
Wu Y, Goleva SB, Breidenbach LB, Kim M, MacGregor S, Gandal MJ, Davis LK, Wray NR
Cell genomics · 2023 · PMID 37492107 · open access

Questions about rs9983489

What is rs9983489?

rs9983489 is a single position in the genome, in or near the near COL6A1 gene. Published research associates it with diverticular disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs9983489 linked to?

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

Does having rs9983489 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 rs9983489 come from?

GWAS Catalog, Cell genomics 2023, PMID:37492107. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Diverticular disease (rs9983489). MyGeneLog™. https://www.mygenelog.com/variants/rs9983489

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