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Its strongest genetic-study result is p = 10−17, with 12 associations in the GWAS Catalog.
How this is scored
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 12,924 European ancestry cases, 21,442 European ancestry controls; replicated in 25,683 European ancestry cases, 17,015 European ancestry controls.
The effect
Each copy of the C allele carried 1.09 times the odds of Inflammatory bowel disease (95% confidence interval 1.056-1.126); p = 1 × 10−13.
How common The C allele had a frequency of about 26% in the people studied.
Where it sits Chromosome 20, band 20q13.12 — between genes, 4.8 kb from CD40.
How common each version is
AC
KoreanKRGDB
A 64.6% · C 35.4%
KoreanKorea4K
A 65.5% · C 34.5%
KoreanKorea1K
A 66.1% · C 33.9%
Japanese ToMMo
A 61.6% · C 38.4%
Vietnamese
A 49.1% · C 50.9%
World gnomAD
A 79.3% · C 20.7%
World 1000 Genomes
A 77.2% · C 22.8%
World TOPMed
A 80.3% · C 19.7%
The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.
What each result means
A/ANo copy of the version the research linked to Inflammatory bowel disease. This is the starting point the study compared everyone against.
A/COne copy of the version the research linked to Inflammatory bowel disease. That is a smaller link than two copies.
C/CTwo copies of the version the research linked to Inflammatory bowel disease. That is the strongest link of the three results. A link in a study is not a diagnosis.
rs1569723 is a single position in the genome, in or near the CD40 gene. Published research associates it with inflammatory bowel 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 rs1569723 linked to?
On MyGeneLog this position is linked to Inflammatory Bowel Disease. The research behind each link, and its sources, are set out on that condition page.
Does having rs1569723 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 rs1569723 come from?
GWAS Catalog, Nature 2012, PMID:23128233. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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