Any difference between the sequence of two individuals’ genomes or a reference genome. Variants can be harmless or disease causing (pathogenic).
Use in clinical context
Variants in an individual’s genome can be the direct cause of a rare condition, result in an increased or decreased predisposition to developing common health problems, or they can have no discernible phenotypic effect at all. A variant can be a single base change or span many thousands of bases. The size of the variant does not reflect the impact, if any, that it has on the individual.
Genetic/genomic variation | Genome | Pathogenic | Phenotype | Reference genome | Sequence | Variant calling