Minor allele frequency


Minor allele frequency is the frequency at which the second most common allele occurs in a given population. They play a surprising role in heritability since MAF variants which occur only once, known as "singletons", drive an enormous amount of selection.
Single nucleotide polymorphisms with a minor allele frequency of 0.05 or greater were targeted by the HapMap project.
MAF is widely used in population genetics studies because it provides information to differentiate between common and rare variants in the population.
As an example, a 2015 study sequenced the whole genomes of Sardinian individuals. The authors classified the variants found in the study in three classes according to their MAF. It was observed that rare variants appeared more frequently in coding regions than common variants in this population.

Interpreting MAF data

1. Introduce the reference of a SNP of interest, as an example: rs429358, in a database.
2. Find MAF/MinorAlleleCount link. MAF/MinorAlleleCount: C=0.1506/754 ; where C is the minor allele for that particular locus; 0.1506 is the frequency of the C allele, i.e. 15% within the 1000 Genomes database; and 754 is the number of times this SNP has been observed in the population of the study.