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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.
What the study found
Who was studied 266 African American or Afro-Caribbean cases, 120,306 African American or Afro-Caribbean controls, 702 European ancestry cases, 446,298 European ancestry controls.
The effect
Each copy of the C allele shifted the measure 3.96 lower (95% confidence interval 3.95-3.97); p = 2 × 10−12.
How common The C allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 18, band 18q12.3 — a synonymous change in EPG5.
What ClinVar records
ClassificationLikely benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2026-05-01.
ClinVar record 2648698NM_213602.3(SIGLEC15):c.855C>T (p.Arg285=)
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
C/CTwo copies of the version the research linked to Acute bronchospasm (PheCode 498). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Acute bronchospasm (PheCode 498). That is a smaller link than two copies.
T/TNo copy of the version the research linked to Acute bronchospasm (PheCode 498). This is the starting point the study compared everyone against.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs61995716
What is rs61995716?
rs61995716 is a single position in the genome, in or near the EPG5 gene. Published research associates it with acute bronchospasm (phecode 498). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs61995716 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 rs61995716 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.
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