Table 4.

Observed proportion of participants with PV or LPV who had RCFs of the associated condition compared to the expected proportion.

	Observed*	Expected†	SIR‡	P§
Framingham Heart Study
All ACMG genes	4/5 (80.0%)	0.62/5 (12.4%)	6.4 (1.7–16.5)	7 × 10−4
Cancer	2/2 (100%)	0.15/2 (7.5%)	13.0 (1.5–47.0)	0.006
Cardiovascular	2/3 (66.7%)	0.46/3 (15.3%)	4.2 (0.5–15.4)	0.06
Jackson Heart Study
All ACMG genes	7/26 (26.9%)	1.4/26 (5.4%)	4.7 (1.9–9.7)	3 × 10−4
Cancer	3/12 (25.0%)	0.7/12 (5.8%)	4.3 (0.9–12.6)	0.03
Cardiovascular	4/14 (28.6%)	0.8/14 (5.7%)	5.1 (1.4–12.0)	4 × 10−3

^*Observed fraction of individuals carrying a PV who had the associated RCF.

^†Expected fraction of individuals based on the incidence of the RCF observed in individuals without PVs.

^‡SIR and 95% CI.

^§P values comparing observed and expected fraction of PV carriers with RCFs, calculated with a binomial simulation.