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What is a genetic polymorphism or SNP?

A genetic polymorphism or SNP (single-nucleotide polymorphism) is a variation in a specific DNA position which is also present in a significant proportion of the population.

A polymorphism may have no effect, but some, usually located in coding or regulatory regions of the genome, may have consequences on the phenotype affecting, for example, our susceptibility to certain diseases or drug metabolism, which is the basis of the tellmeGen study.

By consensus, each of these variants is assigned a rs code (Reference SNP cluster ID or rsID) used in research and reference databases (such as dbSNP). This code can be found within the technical details of each of the items.

Genome-Wide Association Studies (GWAS) is an approach used in genetic research to associate specific genetic variations with certain diseases or conditions. This method involves the analysis of the genomes of a large number of different people and looking for predictive markers of a certain condition.