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Figure 1. All SNPs are denoted numerically with reference to Table 2 and tSNPs are indicated in red. (A) Genomic structure of the human WNK1 gene showing the relative physical position of the 19 genotyped SNPs. Exons are indicated by the vertical black bars and alternatively spliced exons by the white boxes. The functional domains of the WNK1 protein are also indicated along with the position of the 21 and 42 kb PHAII causing deletions in intron 1. (B) A graphical overview of the pairwise LD operating over the WNK1 region in 181 parents. LD as measured by |D'| is shown below the diagonal, with the correlation coefficient r2 above the diagonal. SNP 2 was excluded from LD analysis because of its low MAF. (C) Plots of LD versus intermarker distance for both |D'|, top panel, and r2, bottom panel. Spearman's correlation coefficient {rho} was calculated to assess the relationship between LD and distance for both |D'| and r2. (D) Estimated WNK1 haplotypes and frequencies (F) that account for ~90% of all chromosomes in 181 parents; minor alleles are indicated in black.





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