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Table 2 Distribution of top haplotypes frequencies in 4 major supergroupsa

From: Analyzing a putative enhancer of optic disc morphology

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

  1. 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