Table 1. Characteristics of the selected gene variants.
Locus | Position | Gene | SNP ID | Alleles | MAF | Type | Citations |
---|---|---|---|---|---|---|---|
6p22.2 | 6:26092913 | HFE | rs1800562 | G/A | 0.06 (A) | missense | 222 |
22q12.3 | 22:37066896 | TMPRSS6 | rs855791 | G/A | 0.50 (G) | missense | 108 |
6p21.2 | 6:38398097 | BTBD9 | rs9357271 | T/C | 0.50 (T) | intronic | 22 |
Abbreviations: BTBD9, BTB domain-containing protein-9 gene; HFE, homeostatic iron regulator gene; MAF, minor allele frequency; SNP, single-nucleotide polymorphism; TMPRSS6, transmembrane protease, serine 6 gene. Data are currently mapped to Genome Assembly GRCh38.p13 (Data source: www.ensembl.org)