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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.
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Genome Medicine

ISSN: 1756-994X

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