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. 2021 Oct 5;139(20):3018–3029. doi: 10.1182/blood.2021011338

Table 2.

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)

Modified from Wallace and Subramaniam.19