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. Author manuscript; available in PMC: 2014 Oct 1.
Published in final edited form as: Br J Haematol. 2013 Aug 16;163(2):268–276. doi: 10.1111/bjh.12507

Table II.

Summary of single nucleotide polymorphisms (SNPs) and haplotypes present in SIT Trial participants.

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.