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Genetic variation between individuals at a single nucleotide.

Use in clinical context

Genetic variation can range from whole chromosome duplications or deletions to small changes at individual bases known as single nucleotide polymorphisms (SNPs). SNPs can be where one base is changed for another or when an individual base is inserted or deleted from the sequence. Such variation may change an individual’s appearance, can be the direct cause of rare conditions or can result in increased or decreased predisposition to developing common health problems. It may also have no discernible phenotypic effect at all.

Last updated on 3rd June, 2019