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. 2015 Mar 1;16:22. doi: 10.1186/s12863-015-0180-5

Table 1.

Description of the five studied polymorphisms

Reference Location Chromosome Polymorphism Minor allele frequency in cases Minor allele frequency in controls Hardy-Weinberg equilibrium χ2 p-value
Allele change Residue change All African origin Others All African origin Others Cases Controls
rs1801516 Coding region of ATM 11q22–23 G > A D1853N 0.11 0.14 0.10 0.11 0.13 0.10 0.08 0.7
rs944289 Intergenic, 337 kb telomeric of NKX2–1 14q13.3 C > T - 0.56 0.46 0.59 0.43 0.36 0.47 0.04 0.5
rs965513 Intergenic, 57 kb upstream to FOXE1 9q22.33 G > A - 0.36 0.28 0.39 0.25 0.21 0.26 0.6 0.9
rs1867277 5′UTR of FOXE1 9q22.33 G > A - 0.46 0.40 0.48 0.37 0.38 0.36 0.7 0.4
rs71369530 Exon 1 of FOXE1 9q22.33 - Poly-alanine tract expansion 0.40 0.29 0.43 0.28 0.29 0.27 0.6 0.9