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Minor Allele Count (MAC)

Definition
AI-generated

The minor allele count is the total number of copies of the minor allele observed for a variant across genotyped individuals (twice the number of homozygotes plus heterozygotes carrying that allele).

Topics
Core genetics
Related
Minor Allele Frequency (MAF) Single Nucleotide Polymorphism (SNP) Hardy-Weinberg Equilibrium (HWE)

Why it matters in GWAS

MAC floors complement MAF cutoffs in small cohorts: a variant can exceed a MAF threshold yet still have too few carrier chromosomes for stable estimation or asymptotic association tests.

Example usage

"We dropped variants with MAC < 20 before rare-variant burden tests."

Minor Allele Frequency (MAF) Single Nucleotide Polymorphism (SNP) Hardy-Weinberg Equilibrium (HWE)
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References

  • Purcell S, et al. (2007). PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet.
  • GWASTutorial: Genotype Data QC.
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