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Polymorphisms

Meaning

Polymorphisms are common variations in the DNA sequence that occur at a specific position in the genome, where the variation is present in more than one percent of the population. These single nucleotide polymorphisms (SNPs) or small sequence repeats are distinct from rare mutations and contribute significantly to the genetic diversity among individuals, influencing everything from drug metabolism to hormone receptor sensitivity. Understanding a patient’s relevant polymorphisms is increasingly important for personalized hormonal health and therapeutic dosing.