Skip to main content
. Author manuscript; available in PMC: 2014 Dec 2.
Published in final edited form as: Blood Cells Mol Dis. 2008 Oct 1;42(1):16–24. doi: 10.1016/j.bcmd.2008.07.002

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.