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Effect Allele

Definition
AI-generated

The effect allele is the allele whose association with the trait is reported by the signed effect in summary statistics—the allele with respect to which betas or log odds ratios are defined.

Topics

Why it matters in GWAS

Meta-analysis, PRS, and MR require harmonizing effect direction so all cohorts use the same effect allele; flipping mistakes invert association signs.

Example usage

"We flipped summary stats so A1 always denoted the effect allele reported in column BETA."

References

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