Commonly occurring SNPs lie in stark contrast to genetic variants that are implicated in more rare genetic disorders, such as cystic fibrosis [8]. These conditions are largely caused by extremely rare genetic variants that ultimately induce a detrimental change to protein function, which leads to the disease state. Variants with such low frequency in the population are sometimes referred to as mutations, though they can be structurally equivalent to SNPs - single base-pair changes in the DNA sequence. In the genetics literature, the term SNP is generally applied to common single base-pair changes, and the term mutation is applied to rare genetic variants.
