Table 2. Derived SMN1 allele frequencies.
| Ethnicity (number of individuals)a | 0-copy (%) (a) | 95% CI (%) | 1-copy (%) (b) | 95% CI (%) | 2-copy (%) (c) | 95% CI (%) | 1d (%) (d) |
|---|---|---|---|---|---|---|---|
| Pan-ethnic (N=68 471) | 0.92 | (0.87–0.98) | 92.02 | (91.86–92.17) | 7.04 | (6.90–7.18) | 0.02 |
| Caucasian (N=24 471) | 1.06 | (0.97–1.16) | 95.3 | (95.09–95.48) | 3.63 | (3.47–3.80) | 0.02 |
| Ashkenazi Jewish (N=5806) | 0.73 | (0.59–0.91) | 91.91 | (91.36–92.39) | 7.34 | (6.88–7.84) | 0.02 |
| Asian (N=4647) | 0.83 | (0.66–1.05) | 94.42 | (93.90–94.87) | 4.74 | (4.31–5.19) | 0.02 |
| Hispanic (N=7655) | 0.72 | (0.59–0.88) | 91.4 | (90.92–91.86) | 7.86 | (7.43–8.31) | 0.02 |
| Asian Indian (N=976) | 0.96 | (0.60–1.54) | 90.88 | (89.36–92.09) | 8.15 | (6.98–9.48) | 0.02 |
| African American (N=4883) | 0.68 | (0.52–0.91) | 71.79 | (70.73–72.76) | 27.51 | (26.57–28.51) | 0.02 |
| Not provided (N=17 235) | 0.91 | (0.81–1.03) | 92.09 | (91.78–92.38) | 6.98 | (6.71–7.26) | 0.02 |
Abbreviation: CI, confidence interval.
a
Number of individuals with no family history of SMA referred for SMN1 copy number analysis by ethnic background.