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. 2020 Oct 22;21(Suppl 1):73. doi: 10.1186/s12863-020-00873-z

Table 2.

Distribution of top haplotypes frequencies in 4 major supergroupsa

Haplotype (15 letters) ‘Tag’ haplotype AFR EAS EUR SAS
AGAAGGCGAGGGGAG GG 0.562 0.86 0.605 0.642
GAGGCTTATAAAATA AC 0.209 0.132 0.172 0.28
AGGGCTTATGAAATA GC 0.043 0 0.21 0.045
SUM: 0.814 0.992 0.987 0.967

a Supergroup denotations are given in Fig. 2. GWAS SNPs are marked with bold, eQTL causal SNP is marked in bold Cyrillic. The first allele is a major one (f > 0.5 in all supergroups), two others are minor ones. The ‘tag’ haplotype represents convoluted GWAS/eQTL 2-letter haplotype of tag SNPs (pos. 5:rs4658101, pos. 10:rs10874833). Two African–specific low frequency haplotypes AAGGCTTATGAAATA (0.099) and AAGGCTTATAAAATA (0.07) were omitted from consideration according to selection criterion