Ethnicity | 0 | 1 | 2 | 1D* |
Caucasian | 0.0142 | 0.9532 | 0.0318 | 0.0003 |
Ashkenazi Jewish | 0.0121 | 0.9072 | 0.0825 | 0.0002 |
Asian | 0.0096 | 0.9338 | 0.0571 | 0.0002 |
African American | 0.0077 | 0.7188 | 0.2691 | 0.0001 |
Hispanic | 0.0044 | 0.9188 | 0.0804 | 0.0001 |
*1D = disease allele (not caused by exon 7 deletions—for example, point mutations) as described by and based on frequency in SMA patients by Wirth et al (1999).11 De-novo mutations have also been described in spinal muscular atrophy (SMA) patients; however, their frequency is sufficiently low (∼2%) such that their inclusion in the calculations causes no change to these results at the level of precision used here.21