Table 1.
PMBB whole exome-sequenced cohort characteristics
| Basic demographics | |
|---|---|
| Total population, N | 41 759 |
| Female, N (%) | 20 731 (49.6) |
| Median age, years | 63 |
| Birth year range | 1911–2003 |
| Genetically informed ancestry | |
| AFR, N (%) | 10 217 (24.5) |
| AMR, N (%) | 572 (1.4) |
| EAS, N (%) | 672 (1.6) |
| EUR, N (%) | 29 362 (70.3) |
| AS, N (%) | 564 (1.4) |
| Phecodes | |
| Primary/intrinsic cardiomyopathies, N (%) | 2912 (7.6) |
| Hypertrophic obstructive cardiomyopathy, N (%) | 199 (0.6) |
| Other HCM, N (%) | 184 (0.5) |
| Cardiac dysrhythmias, N (%) | 12 130 (35.5) |
| Atrial fibrillation, N (%) | 5885 (21.0) |
| Atrial flutter, N (%) | 2324 (9.5) |
| Paroxysmal ventricular tachycardia, N (%) | 1960 (8.2) |
| Ventricular fibrillation and flutter, N (%) | 467 (2.1) |
| Cardiac conduction disorders, N (%) | 5688 (20.5) |
| Cardiac pacemaker/device in situ, N (%) | 3177 (12.6) |
| Cardiac defibrillator in situ, N (%) | 1945 (8.1) |
| Congestive heart failure; non-hypertensive, N (%) | 6224 (16.9) |
| Heart transplant/surgery, N (%) | 792 (2.5) |
| Cardiac shunt/heart septal defect, N (%) | 547 (1.4) |
| Cardiogenic shock, N (%) | 188 (0.5) |
| Muscular wasting and disuse atrophy, N (%) | 52 (0.1) |
Note: Basic demographic characteristics and representative Phecodes identified by gene burden PheWAS for MYBPC3 and MYH7. Each characteristic is labeled with count data and percent prevalence where appropriate. Individuals were determined to be a case for a Phecode if they had the corresponding ICD diagnosis on two or more dates, while controls consisted of individuals who never had the ICD code. Individuals with an ICD diagnosis on only one date as well as those under control exclusion criteria based on Phecode mapping protocols were not considered. AFR, African; AMR, Mixed American; EAS, East Asian; EUR, European; SAS, South Asian.