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Major Allele

Definition
AI-generated

The major allele is the more frequent allele at a variant within a specified study population or dataset.

Why it matters in GWAS

Major/minor status depends on observed frequency in a given sample and can differ across cohorts. This label is about frequency ranking, not effect direction or reference-genome status.

Example usage

"The major allele in the discovery cohort was not the reference allele after liftover and harmonization."

References

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