- Allele
- Chromosome
- Cis- and trans-variants
- Copy number variation
- Deoxyribonucleic acid (DNA)
- Gene
- Genetic variant
- Genotype
- Haplotype
- Heterozygous or Heterozygote
- Homozygous or Homozygote
- Linkage disequilibrium (LD)
- Locus
- Palindromic single nucleotide polymorphism (SNP)
- Polygenic risk score (PRS)
- Polymorphism
- Rare variants
- Single nucleotide polymorphism (SNP)