Table 3. Observed rare variants across cohorts.
Cohort | ATP2B1 | CACNB2 | CYP17A1 | JAG1 | PLEKHA7 | SH2B3 |
Total (Functional variants*) | ||||||
ARIC | 1085 (20) | 448 (24) | 365 (20) | 616 (31) | 428 (39) | 140 (14) |
CHS | 641 (7) | 310 (20) | 215 (8) | 368 (13) | 235 (20) | 92 (7) |
FHS | 621 (7) | 298 (9) | 122 (10) | 416 (18) | 274 (26) | 104 (12) |
*Number of exonic variants belonging to the following annotated categories: nonsynonymous, splicing, stopgain, or synonymous.