Links from this page to related variants, conditions, drugs and topics are not included for automated readers. Those connections are the Gene Knowledge Graph and are licensed as data: https://www.mygenelog.com/license
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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
Strength of the evidence
2 / 4
Its strongest genetic-study result is p = 10−26, with 4 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 G allele carried 1.10 times the odds of Inflammatory bowel disease (95% confidence interval 1.072-1.138); p = 2 × 10−26.
How common The G allele had a frequency of about 39% in the people studied.
Where it sits Chromosome 21, band 21q22.3 — inside GATD3.
How common each version is
G
By ancestry gnomAD
European (non-Finnish)
G 100.0%
The share of all copies of this position that are each version. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.
What each result means
G/GTwo 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.
G/TOne copy of the version the research linked to Inflammatory bowel disease. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Inflammatory bowel disease. This is the starting point the study compared everyone against.
DNA databases also record a third, rare version at this position, carried on fewer than one in a hundred copies of the DNA. The three results above cover the two common versions only.
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Quoting this page
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