Table 2. SNP Frequency and htSNPs in the HbAA and HbSS groups.
Frequency | |||||||||
---|---|---|---|---|---|---|---|---|---|
No. | ID | Position | SNP | Associated Allele | HbAA (%) | HbSS (%) | HbAA htSNP | HbSS htSNP | β-Locus Region |
2 | rs7119142 | 1580 | T/C | C | 36.2 | 76.2 | √ | HS4 | |
3 | rs34272388 | 7573 | T/C | C | 5.4 | 57.1 | √ | HS2 | |
4 | 7579 | 7579 | C/G | G | 5.4 | 57.1 | |||
8 | rs7119428 | 8580 | A/C | C | 5.2 | 57.1 | √ | ||
14 | rs7946623 | 12346 | T/C | C | 12.1 | 57.1 | |||
17 | rs11036571 | 15024 | C/A | A | 8.9 | 25.6 | √ | HS1 | |
18 | rs7479652 | 17554 | G/A | A | 36.2 | 62.2 | √ | √ | ε-globin |
20 | rs3759069 | 18831 | C/T | C | 32.8 | 59.5 | √ | √ | |
21 | rs3759071 | 19130 | T/C | T | 31 | 46.4 | |||
23 | rs4910740 | 23370 | T/C | T | 44.8 | 25.6 | √ | √ | |
24 | rs10160271 | 25990 | C/T | C | 13.8 | 6 | √ | √ | |
27 | rs11820733 | 29227 | C/T | T | 16.7 | 46.4 | √ | √ | |
29 | rs10128653 | 33028 | T/G | G | 5.2 | 26.2 | √ | √ | Gγ-globin |
30 | rs2855121 | 33198 | A/G | A | 15.5 | 7.1 | √ | √ | |
31 | rs2855122 | 33253 | G/A | G | 41.4 | 20.7 | √ | √ | |
43 | rs11827654 | 37975 | C/T | T | 24.1 | 58.3 | √ | Aγ-globin | |
44 | rs2855039 | 38826 | A/G | A | 15.5 | 7.1 | √ | ||
46 | *rs6578593 | 40688 | G/T | T | 31 | 36.9 | √ | ||
52 | rs2071348 | 46334 | A/C | C | 17.2 | 7.1 | √ | √ | ψβ-globin |
53 | rs11036415 | 47670 | G/T | T | 14.3 | 59.5 | √ | √ | |
54 | rs10488677 | 48982 | C/A | A | 15.5 | 6 | √ | ||
73 | rs334 | 62206 | A/T | A | 100 | 0 | β-globin | ||
83 | *rs7480526 | 62705 | G/T | G | 37.9 | 33.3 | √ |
The allele frequency for 23SNPs including some htSNPs (√) for the HbAA and HbSS groups are summarized. SNP selection criteria are described in the text. The βS SNP (rs334) is indicated in bold letters. The column labeled “Variation” refers to wild-type/polymorphic nucleotide. The frequency was calculated for the associated allele. The “*“ indicates SNPs showing similar allele frequencies for both group. The nucleotide positions were located using the HBB record U01317; SNP distribution across the β-globin locus is indicated. Abbreviations: HS, hypersensitive site.