Table 5.
Population | Total Number of Alleles 1 | Total Number of Variants | Collective Frequency of Variants | Heterozygote Frequency | Prevalence in 103 Individuals |
---|---|---|---|---|---|
All | 277,144 | 1524 | 0.0055 | 0.011 | 11 |
Africans and African Americans | 24,036 | 166 | 0.0069 | 0.014 | 14 |
Admixed Americans | 34,418 | 176 | 0.0051 | 0.010 | 10 |
Ashkenazi Jewish | 10,152 | 44 | 0.0043 | 0.0087 | 9 |
East Asians | 18,868 | 35 | 0.0019 | 0.0037 | 4 |
Finnish | 25,794 | 44 | 0.0017 | 0.0034 | 3 |
Non-Finnish Europeans | 126,646 | 922 | 0.0073 | 0.015 | 15 |
South Asians | 30,782 | 90 | 0.0029 | 0.0058 | 6 |
Other ethnicities | 6466 | 47 | 0.0073 | 0.015 | 15 |
Carrier rates were estimated using the gnomAD database, including all null mutations, plus missense variants predicted to be deleterious by 7 of 7 prediction software, plus splicing defects located at intronic positions −3 and +3/+6 and predicted as disrupting by 3 of 3 algorithms (see Section 4). 1 Discrepancies in the number of alleles are due to slight differences in the number of individuals successfully sequenced for each specific region.