| |
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
|
- 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)
-
CI confidence interval
-
a) Based on results of only one study
