Table II.
Number | Position* | SNP | Alleles | MAF** |
1 | chr11:5246000 | rs11036351 | [C/T] | T (0.32) |
2 | chr11:5258162 | rs4320977 | [A/G] | G (0.23) |
3 | chr11:5263853 | rs16912210 | [A/G] | G (0.21) |
4 | chr11:5271671 | rs2855039 | [A/G] | A (0.10) |
5 | chr11:5276169 | rs7482144 | [A/G] | A (0.09) |
Haplotype | Genotype*** | Frequency | ||
H1 | CAAGG | 0.665 | ||
H2 | TGGGG | 0.202 | ||
H3 | TAAAA | 0.094 | ||
Other | 0.040 |
Genome Reference Consortium GRCh37 chromosomal coordinates.
Observed minor allele frequency.
Haplotype estimated with PHASE Version 2.1 using 5 SNPs spanning the HBB cluster. The three most common resulting five-SNP haplotypes were named H1, H2, and H3 in order of their prevalence in this population.