Table 1.

Common Statistical Genetics Terms Used in This Scientific Statement

Terms	Definition
AUC	The probability that the statistical model will correctly classify a participant as having or not having a disease (discrimination)
C statistic	The probability that the statistical model will correctly classify a participant who will go on to develop or not go on to develop a disease (discrimination)
NRI	A measure of how a new model, typically with the addition of ≥1 more risk factors, reclassifies participants
SNV	A variation in nucleotide base pair compared with what is expected at that location in the human genome, ie, an A instead of a G
LD	The nonrandom association of alleles that tend to be inherited together more often than chance; a function of allele ages, genomic distance, and local recombination rates
Minor allele frequency	The prevalence of the least common allele among the possible allele combinations at a genomic site
Monogenic risk variants	Rare and typically disruptive or protein-truncating variants that confer large risks of disease; typically follow classic mendelian patterns of inheritance
Polygenic risk variants	Commonly occurring variants in the population that typically confer an individually small risk of developing a disease

AUC indicates area under the receiver-operating characteristic curve; LD, linkage disequilibrium; NRI, net reclassification index; and SNV, single nucleotide variant.