Combined pathogenic allele frequency for HC genes in the 1000 Genomes Project (1000G), Exome Sequencing Project (ESP), and Exome Aggregation Consortium (ExAc) datasets
| Gene . | 1000G . | ESP6500 . | ExAc . | Geographical distribution . |
|---|---|---|---|---|
| HFE (p.Cys282Tyr) | 0.013 | 0.048 | 0.0324 | Highest prevalence in Northern Europe |
| HFE (non-p.Cys282Tyr) | 0.001 | 0.0002 | 0.000307 | |
| HJV | 0.00074 | 0.000316 | Highest prevalence in Southern Asia | |
| TFR2 | 0.0004 | 0.0003 | 0.000102 | Most frequent among non-Finnish European populations |
| HAMP | 0.0002 | 0.0000165 | Several populations | |
| SLC40A1 | 0.0008 | 0.0009 | 0.00034 | Several populations (highest prevalence among Africans) |
| Gene . | 1000G . | ESP6500 . | ExAc . | Geographical distribution . |
|---|---|---|---|---|
| HFE (p.Cys282Tyr) | 0.013 | 0.048 | 0.0324 | Highest prevalence in Northern Europe |
| HFE (non-p.Cys282Tyr) | 0.001 | 0.0002 | 0.000307 | |
| HJV | 0.00074 | 0.000316 | Highest prevalence in Southern Asia | |
| TFR2 | 0.0004 | 0.0003 | 0.000102 | Most frequent among non-Finnish European populations |
| HAMP | 0.0002 | 0.0000165 | Several populations | |
| SLC40A1 | 0.0008 | 0.0009 | 0.00034 | Several populations (highest prevalence among Africans) |
Modified from Wallace and Subramaniam.19