Table 4.

Glossary terms.

Terminology	Description
Genetic association study	A type of study that aims to characterize and identify genomic variants that correlate with susceptibility to multifactorial diseases.71
Single nucleotide polymorphism (SNP)	A type of human genetic variation that is abundant in the population. It involves the mutation of a single nucleotide in the DNA sequence. They are used as a resource for mapping many complex genetic traits.72
Genetic variability	The presence of genetic differences within a population.
Genetic variant	An alteration or variant in the typical DNA nucleotide sequence. Can be used to describe a benign or pathogenic alteration.73
Phenotype	The physical presentation of an individual who possesses a specific genotype.73
Genotype	The genetic composition of an individual.73
rsID	Stands for reference SNP ID. It is used by researchers and databases to refer to a specific SNP.74
Major allele	The dominant allele of the gene.
Minor allele	The recessive allele of a gene.
Heterozygous	A genotype that includes one major allele and one minor allele.73
Homozygous	A genotype that includes either two major alleles or two minor alleles.73
Biomarker	Biologic parameters that can be objectively measured and evaluated, which relate a specific therapeutic intervention to its effect on molecular and cellular pathways and its corresponding clinical presentation.75