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Table 6 Carrier, SMN1 copy number 2 carrier and disease frequencies per ethnicity

From: Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

  Adjusted carrier and disease frequencies
  1 SMN1 copy carriers 2 SMN1 copies carriers Disease Frequency
Ethnicity Frequency 95% CI Frequency 95% CI Frequency 95% CI
Asian 0.022 0.021–0.023 0.0014 0.0012–0.0015 1.3E-04 1.2E-04-1.4E-04
Asian Indiana 0.020 0.012–0.030 0.0021 0.0014–0.0030 1.0E-04 4.0E-05-2.4E-04
Black (Sub-Saharan ancestry) 0.014 0.011–0.018 0.0042 0.0034–0.0052 5.3E-05 3.4E-05-8.1E-05
Caucasian 0.022 0.021–0.024 0.0013 0.0011–0.0014 1.3E-04 1.1E-04-1.5E-04
Hispanic 0.014 0.011–0.017 0.0015 0.0013–0.0018 5.0E-05 3.5E-05-7.0E-05
Jewish 0.020 0.018–0.022 0.0016 0.0014–0.0018 1.0E-04 8.3E-05-1.2E-04
  1. Median and 95% posterior intervals of carrier, copy number 2 carriers and disease frequencies. Frequencies calculated based on allele frequencies, small mutation and de novo mutation frequencies (calculations described in Additional File 1)
  2. CI confidence interval
  3. a) Based on results of only one study