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Who was studied 6,687 European ancestry cases, 19,718 European ancestry controls; replicated in 9,628 European ancestry cases, 12,917 European ancestry controls.
The effect
Each copy of the A allele carried 1.12 times the odds of Ulcerative colitis (95% confidence interval 1.08-1.17); p = 3 × 10−19.
How common The A allele had a frequency of about 41% in the people studied.
Where it sits Chromosome 9, band 9q34.3 — a synonymous change in CARD9.
What ClinVar records
ClassificationBenign/Likely benign for Predisposition to invasive fungal disease due to CARD9 deficiency; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 8 submitters), last evaluated 2026-02-04.
ClinVar record 365857NM_052813.5(CARD9):c.126C>T (p.Pro42=)
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 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
A/ATwo copies of the version the research linked to Ulcerative colitis. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to Ulcerative colitis. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Ulcerative colitis. This is the starting point the study compared everyone against.
Nature genetics · 2011 · PMID 21297633 · open access
Questions about rs10781499
What is rs10781499?
rs10781499 is a single position in the genome, in or near the INPP5E gene. Published research associates it with ulcerative colitis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs10781499 linked to?
On MyGeneLog this position is linked to Ulcerative Colitis. The research behind each link, and its sources, are set out on that condition page.
Does having rs10781499 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 rs10781499 come from?
GWAS Catalog, Nat Genet 2011, PMID:21297633. 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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