Estimated global exome-based prevalence of FXI deficiency by ethnicity
| Population . | Total no. of alleles . | Total no. of variants . | Collective frequency of variants . | Heterozygote frequency . | Homozygote/compound heterozygote frequency in 1000 individuals . | Calculated prevalence of FXI deficiency in 106 individuals . |
|---|---|---|---|---|---|---|
| All | 121 412 | 420 | 0.0035 | 0.0069 | 0.0120 | 12.0 |
| East Asians | 8 654 | 47 | 0.0054 | 0.0108 | 0.0295 | 29.5 |
| Others | 908 | 4 | 0.0044 | 0.0088 | 0.0194 | 19.4 |
| Europeans* | 66 740 | 271 | 0.0041 | 0.0081 | 0.0165 | 16.5 |
| Latinos | 11 578 | 36 | 0.0031 | 0.0062 | 0.0097 | 9.7 |
| Africans | 10 406 | 25 | 0.0024 | 0.0048 | 0.0058 | 5.8 |
| South Asians | 16 512 | 32 | 0.0019 | 0.0039 | 0.0038 | 3.8 |
| Finns | 6 614 | 5 | 0.0008 | 0.0015 | 0.0006 | 0.6 |
| Population . | Total no. of alleles . | Total no. of variants . | Collective frequency of variants . | Heterozygote frequency . | Homozygote/compound heterozygote frequency in 1000 individuals . | Calculated prevalence of FXI deficiency in 106 individuals . |
|---|---|---|---|---|---|---|
| All | 121 412 | 420 | 0.0035 | 0.0069 | 0.0120 | 12.0 |
| East Asians | 8 654 | 47 | 0.0054 | 0.0108 | 0.0295 | 29.5 |
| Others | 908 | 4 | 0.0044 | 0.0088 | 0.0194 | 19.4 |
| Europeans* | 66 740 | 271 | 0.0041 | 0.0081 | 0.0165 | 16.5 |
| Latinos | 11 578 | 36 | 0.0031 | 0.0062 | 0.0097 | 9.7 |
| Africans | 10 406 | 25 | 0.0024 | 0.0048 | 0.0058 | 5.8 |
| South Asians | 16 512 | 32 | 0.0019 | 0.0039 | 0.0038 | 3.8 |
| Finns | 6 614 | 5 | 0.0008 | 0.0015 | 0.0006 | 0.6 |
The carrier rates of FXI deficiency were estimated using the ExAC data set, including all null mutations plus missense variants predicted to be deleterious by 7 of 7 prediction software (see “Methods”).
Non-Finnish Europeans.