Skip to main content

Genetic Polymorphisms

Meaning

Genetic polymorphisms represent common variations in the DNA sequence among individuals within a population, where the least common allele occurs at a frequency of 1% or greater. These variations include single nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations, reflecting the natural genetic diversity across humanity. They are distinct from rare mutations, which typically occur at much lower frequencies and are often associated with Mendelian disorders.