Estimated global exome-based prevalence of FXI deficiency by ethnicity: mutations included only if present in FXI deficiency patients in public databases
| Population . | Total no. of alleles . | Total no. of carriers . | Collective frequency of variants . | Heterozygote frequency . | Homozygote/compound heterozygote frequency in 1000 individuals . | Calculated prevalence of FXI deficiency in 106 individuals . |
|---|---|---|---|---|---|---|
| All | 121 412 | 351 | 0.0029 | 0.0058 | 0.0084 | 8.4 |
| East Asians | 8 654 | 39 | 0.0045 | 0.0090 | 0.0203 | 20.3 |
| Others | 908 | 4 | 0.0044 | 0.0088 | 0.0194 | 19.4 |
| Europeans* | 66 740 | 240 | 0.0036 | 0.0072 | 0.0129 | 12.9 |
| Latinos | 11 578 | 24 | 0.0021 | 0.0041 | 0.0040 | 4.3 |
| Africans | 10 406 | 17 | 0.0016 | 0.0033 | 0.0027 | 2.7 |
| South Asians | 16 512 | 25 | 0.0015 | 0.0030 | 0.0023 | 2.3 |
| Finns | 6 614 | 2 | 0.0003 | 0.0006 | 0.0001 | 0.1 |
| Population . | Total no. of alleles . | Total no. of carriers . | Collective frequency of variants . | Heterozygote frequency . | Homozygote/compound heterozygote frequency in 1000 individuals . | Calculated prevalence of FXI deficiency in 106 individuals . |
|---|---|---|---|---|---|---|
| All | 121 412 | 351 | 0.0029 | 0.0058 | 0.0084 | 8.4 |
| East Asians | 8 654 | 39 | 0.0045 | 0.0090 | 0.0203 | 20.3 |
| Others | 908 | 4 | 0.0044 | 0.0088 | 0.0194 | 19.4 |
| Europeans* | 66 740 | 240 | 0.0036 | 0.0072 | 0.0129 | 12.9 |
| Latinos | 11 578 | 24 | 0.0021 | 0.0041 | 0.0040 | 4.3 |
| Africans | 10 406 | 17 | 0.0016 | 0.0033 | 0.0027 | 2.7 |
| South Asians | 16 512 | 25 | 0.0015 | 0.0030 | 0.0023 | 2.3 |
| Finns | 6 614 | 2 | 0.0003 | 0.0006 | 0.0001 | 0.1 |
These “more conservative” carrier rates of FXI deficiency were estimated using the ExAC data set, including all null mutations plus missense variants previously reported as associated with FXI deficiency in public databases (see “Methods”).
Non-Finnish Europeans.