Table 2.
SMN1 copy number (CN) and c.*3+80T>G frequency by population.
| Ethnicity | Total | SMN1 CN = 1 | SMN1 CN = 2 | SMN1 CN = 3 | SMN1 CN = 4 | ||||
|---|---|---|---|---|---|---|---|---|---|
| Count | c.*3+80T>G+ | Count | c.*3+80T>G+ | Count | c.*3+80T>G+ | Count | c.*3+80T>G+ | ||
| African | 902 | 4 | 0 (0.0%) | 404 | 134 (33.2%) | 373 | 315 (84.5%) | 121 | 112 (92.6%) |
| European | 9648 | 212 | 0 (0.0%) | 8899 | 4 (0.04%) | 524 | 22 (4.2%) | 13 | 2 (15.38%) |
| South Asian | 1199 | 20 | 0 (0.0%) | 965 | 1 (0.1%) | 195 | 5 (2.56%) | 19 | 1 (5.26%) |
| East Asian | 593 | 8 | 0 (0.0%) | 552 | 1 (0.18%) | 33 | 1 (3.03%) | 0 | 0 (NA) |
| Admixed American | 341 | 7 | 0 (0.0%) | 296 | 7 (2.36%) | 36 | 9 (25.0%) | 2 | 1 (50.0%) |