Genetic association

Association describes the genetics, the relationship between alleles with respect to the expression of a certain phenotype and / or a specific disease. This correlation is most pronounced in monogenic diseases, where the presence of one or two abnormal alleles can lead directly to the formation of the diseased phenotype, depending on the mode of inheritance.

With the increase of available data from genome-wide studies, more and more alleles are now known, their presence does not lead directly to the formation of a diseased phenotype, but increase the risk for a particular disease proven. Such allelic variants are also known as SNPs (pronounced " snips ").

The term genetic association overlaps with the concepts of penetrance and expressivity.