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Table 4 Variant positions with significant deviations from Hardy-Weinberg equilibrium

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

Population Location Chr:position SNV Pre-mir/mature [dbSNP]/[1000g aaf] Region Number of subjects Number of heterozygous Number of homozygous HWE P-value
AND 5:159912418 C/G hsa-miR-146a-3p RS2910164/0.62 3' seed miR 35 13 22 2.82 × 10-05
  10:135061112 C/T hsa-mir-202 RS12355840/0.71 5' mir 28 2 26 2.09 × 10-12
  X:49767835 A/G hsa-mir-532 RS456617/- 3' mir 14 4 10 6.87 × 10-09
ASW 2:241395503 T/C hsa-mir-149 RS2292832/0.58 3' mir 58 35 23 0.044409715
  4:1988193 T/C hsa-mir-943 RS1077020/0.26 5' mir (mix) 32 15 17 0.000302955
  14:101522589 C/T hsa-mir-323b/hsa-miR-323b-5p RS75330474/0.03 5' rom miR 3 2 1 0.00016146
  15:70371772 C/T hsa-miR-629-5p RS111899904/0.01 5' rom miR 3 2 1 0.00016146
  20:2633466 C/T hsa-mir-1292 RS73576045/0.01 3' mir (mix) 3 2 1 0.00016146
CEU 4:115577997 C/G hsa-mir-577 RS34115976/0.12 3' mir (mix) 22 17 5 0.048957519
  7:129414574 A/G hsa-mir-96 RS41274239/0 Loop 1 0 1 <10-15
  17:28444183 A/C hsa-mir-423 RS6505162/0.51 3' mir 64 57 7 0.000893732
  22:23165340 C/G hsa-mir-650 RS5996397/0.15 3' mir (mix) 22 15 7 0.001677244
CHB 8:145625538 C/G hsa-mir-1234 RS141140965/0.38 5' mir (mix) 83 66 17 0.000639166
  17:28444183 A/C hsa-mir-423 RS6505162/0.51 3' mir 91 20 71 0.030681656
  20:58883605 T/G hsa-mir-646/hsa-miR-646 RS6513497/0.19 3' rom miR 36 36 0 0.049947315
CHS 7:129410227 C/T hsa-mir-182 RS76481776/0.05 3' mir 3 2 1 9.68 × 10-07
  8:145625538 C/G hsa-mir-1234 RS141140965/0.38 5' mir (mix) 84 71 13 4.85 × 10-05
CLM 1:19223639 G/A hsa-mir-1290 RS75705742/0.01 5' mir (mix) 1 0 1 9.44 × 10-15
  2:180725568 T/C hsa-mir-1258 RS146754630/0.01 3' mir 2 1 1 3.44 × 10-07
  5:36148057 T/C hsa-mir-580 RS115089112/0.01 5' mir (mix) 2 1 1 3.44 × 10-07
FIN 8:113655752 T/C hsa-mir-2053 RS10505168/0.37 5' mir (mix) 57 51 6 0.047377863
  18:33484792 G/A hsa-mir-187 RS41274312/0.01 3' mir 3 2 1 2.41 × 10-06
GBR 12:95228286 G/C hsa-mir-492 RS2289030/0.12 3' mir (mix) 8 6 2 0.01260062
  14:100774203 C/T hsa-mir-345 RS72631832/0.01 5' mir 7 5 2 0.004139358
IBS 20:58883534 T/C hsa-mir-646 RS6513496/0.24 5' mir (mix) 3 1 2 0.039045114
  22:23165340 C/G hsa-mir-650 RS5996397/0.15 3' mir (mix) 3 1 2 0.039045114
JPT 2:47604866 C/T hsa-mir-559 RS58450758/0.2 3' mir (mix) 31 23 8 0.039987277
  10:53059406 T/C hsa-mir-605 RS2043556/0.28 3' mir (mix) 39 27 12 0.025845926
  19:54240174 G/A hsa-miR-516b-3p RS78861479/0.02 3' rom miR 13 8 5 2.23 × 10-05
LWK 8:145625538 C/G hsa-mir-1234 RS141140965/0.38 5' mir (mix) 59 53 6 0.040183314
  14:101522556 T/C hsa-mir-323b RS56103835/0.3 5' mir 3 2 1 1.43 × 10-06
  20:62551199 T/C hsa-mir-941-4;hsa-mir-941-3 RS7360929/0.09 5' mir (mix) 15 12 3 0.039190789
  20:62574006 A/G hsa-mir-647 RS73147065/0.23 3' mir (mix) 64 36 28 0.017952613
MXL 12:104324266 G/A hsa-mir-3652 RS17797090/0.06 3' mir (mix) 3 2 1 8.32 × 10-05
PUR 2:241395500 A/G hsa-mir-149 RS71428439/0.14 3' mir 19 13 6 0.034768421
  7:158325503 C/T hsa-mir-595 RS4909237/0.18 5' mir (mix) 19 12 7 0.008555965
  10:14478618 T/C hsa-mir-1265 RS11259096/0.09 3' mir (mix) 3 1 2 1.18 × 10-05
TSI 5:179225324 G/A hsa-mir-1229 RS2291418/0.03 5' mir (mix) 4 2 2 1.25 × 10-06
  8:145625538 C/G hsa-mir-1234 RS141140965/0.38 5' mir (mix) 54 51 3 0.016552142
YRI 2:47604866 C/T hsa-mir-559 RS58450758/0.2 3' mir (mix) 60 54 6 0.006410575
  8:145625538 C/G hsa-mir-1234 RS141140965/0.38 5' mir (mix) 52 48 4 0.026373978
  1. Population, the population where the SNV was found; Location Chr:position, the location (chromosome:position, according to the human genome build GRCh37, hg19) of the SNV; SNV, the change observed (reference allele/alternative allele); Pre-mir/mature, the identifier of the pre-mir and the mature miRNA when the SNV affects it; [dbSNP]/[1000g aaf], identifiers in dbSNP and/or 1000 Genomes when already described; Region, the region in which the SNV maps within the miRNA structure (Figure 1, bottom); Number of subjects, the number of individuals supporting the SNV; Number of heterozygous, the number of times that the SNV occurred heterozygously; Number of homozygous, the number of times that the alternative allele occurred homozygously; HWE P-value, the P-value of the test for Hardy-Weinberg deviation, obtained considering the corresponding population.