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Risk Allele

Definition
AI-generated

A risk allele is the allele associated with increased disease risk (or higher trait value on a harmful direction scale) in a specified analysis and population.

Topics
Core genetics GWAS
Related
Effect Allele Non-risk Allele Odds Ratio

Why it matters in GWAS

"Risk allele" is an interpretation label, not a file-format label. It can differ across traits, populations, models, and coding choices, so it should always be tied to the reported effect direction and phenotype definition.

Example usage

"At this locus, the T allele was the risk allele for disease susceptibility in the discovery cohort."

Effect Allele Non-risk Allele Odds Ratio Reference Allele Alternative Allele
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

← Risk Risk factor →

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