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Table 2 New variants found in the newly sequenced Spanish population (AND) arranged by chromosome location

From: A map of human microRNA variation uncovers unexpectedly high levels of variability

Location SNV Pre-mir/mature Region Number of individuals Population frequency (%) Number of heterozygous Number of homozygous Validated
Chr1:236016354 C/G hsa-mir-1537 5' mir (mix) 1 0.0868 1 0 Yes
Chr 3:10436198 G/A hsa-mir-885/hsa-miR-885-3p 3' seed miR 1 0.0868 1 0 Yes
Chr 3:75679944 C/T hsa-mir-1324 5' mir (mix) 2 0.1736 2 0 NCa
Chr 4:8007067 G/A hsa-mir-95 5' mir (mix) 1 0.0868 1 0 Yes
Chr 9:97847780 C/T hsa-mir-27b Loop 1 0.0868 1 0 Yes
Chr 12:49048256 G/A hsa-mir-1291 3' mir (mix) 1 0.0868 1 0 Yes
Chr 14:23887249 C/G hsa-mir-208b 5' mir (mix) 1 0.0868 1 0 NDb
Chr 14:101347358 C/T hsa-mir-431 5' mir 1 0.0868 1 0 Yes
Chr 14:101506800 G/C hsa-mir-376b 5' mir (mix) 1 0.0868 1 0 Yes
Chr 14:101513665 A/T hsa-mir-539 5' mir 1 0.0868 1 0 Yes
Chr 14:101531692 T/C hsa-mir-409/hsa-miR-409-3p 3' rom miR 1 0.0868 1 0 Yes
  1. Location, the location (chromosome:position, according to the human genome build GRCh37, hg19); SNV, the change observed (reference allele/alternative allele); Pre-mir/mature, the identifier of the pre-mir and the mature miRNA affected by the SNV; Region, the region in which the SNV maps within the miRNA structure (Figure 3, bottom), with several cases where regions cannot be defined with precision due to a lack of a detailed annotation (3' mir (mix) = loop + seed miR 3' + rest of miR 3' + 3' pre-mir; 5' mir (mix) = loop + seed miR 5' + rest of miR 5' + 5' pre-mir; we also use the abbreviations 5' rom miR = rest of miR 5' and 3' rom miR = rest of miR 3'); Number of individuals, the number of individuals supporting the SNV; Population frequency (%), the alternative allele frequency in the studied population; Number of heterozygous, the number of times the SNV occurred heterozygously; Number of homozygous, the number of times that the alternative allele occurred homozygously. aNC, non-conclusive results after using two independent pairs of primers; a double band makes a precise determination of the SNV impossible. bND, not determined because no more DNA was available.