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Allele

Definition
AI-generated

An allele is one of the alternative forms of a genetic variant at a genomic position; for a bi-allelic site, an individual's diploid genotype is the pair of alleles they carry (e.g. AA, AG, GG).

Topics
Core genetics
Related
Alternative Allele Effect Allele Genotype

Why it matters in GWAS

GWAS estimates association with respect to a coded effect or risk allele; major/minor, reference/alternative, and A1/A2 conventions differ across tools, so misalignment between cohorts causes flipped effects and meta-analysis errors.

Example usage

"We harmonized summary statistics so the effect allele matched GRCh38 reference/alternative before meta-analysis."

Alternative Allele Effect Allele Genotype Heterozygote Homozygote Genome-Wide Association Study (GWAS) Linkage Disequilibrium (LD) Measure of effect Minor Allele Frequency (MAF) Monoallelic Reference Allele Single Nucleotide Polymorphism (SNP) Zygosity
Related-term network

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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

← All of Us Research Program Allele balance →

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