Table 1 Diversity of CFTR variants across ancestries
Approximate global ancestry | Sample size, n (%) | Gender: male, n (%) | Age in years, median (IQR) | CFTR variants, n (%) | Unique CFTR variants, n (%) |
|---|---|---|---|---|---|
African (AFR) | 6278 (1.4%) | 2582 (41%) | 62 (57,70) | 417 (9.9%) | 138 (33.1%) |
Central South Asia (CSA) | 8470 (1.9%) | 4572 (54%) | 65 (58, 72) | 471 (11.2%) | 177 (37.6%) |
East Asia (EAS) | 2608 (0.6%) | 886 (34%) | 63 (57,70) | 266 (6.3%) | 104 (39.1%) |
European (EUR) | 397,073 (87.3%) | 182,164 (46%) | 70 (62,75) | 3192 (76.1%) | 2212 (69.3%) |
American/Admixed American (AMR) | 950 (0.2%) | 334 (35%) | 63 (57,71) | 151 (3.6%) | 23 (15.2%) |
Middle East (MID) | 1498 (0.3%) | 872 (58%) | 63 (57,70) | 222 (5.3%) | 46 (20.7%) |
MIX | 37,850 (8.3%) | 16,450 (43%) | 67 (60,67) | 1333 (31.8%) | 381 (28.6%) |