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. 2017 Jul 24;12(7):e0181580. doi: 10.1371/journal.pone.0181580

Table 2. Selected single nucleotide variants of the candidate genes, their allele frequencies and Hardy–Weinberg equilibrium.

No. CHR Position GRCh37/hg19 Gene Region SNV Minor allele Major allele MAF % HWE p value
1 1 161160872 ADAMTS4 3’UTR rs34884997 C T 0.12 0.68
2 1 161161284 ADAMTS4 nonsynonymous rs41270041 C G 0.18 0.52
3 1 161163037 ADAMTS4 nonsynonymous rs4233367 T C 0.18 0.76
4 1 161168004 ADAMTS4 synonymous rs33941127 T C 0.40 0.85
5 1 161168189 ADAMTS4 nonsynonymous rs34448954 T C 0.13 0.42
6 2 113532083 IL1A 3’UTR rs2856836 G A 0.27 0.06
7 2 113532236 IL1A 3’UTR rs1304037 C T 0.28 0.06
8 2 113537223 IL1A nonsynonymous rs17561 A C 0.27 0.06
9 2 113542960 IL1A 5’UTR rs1800587 A G 0.27 0.06
10 2 113587121 IL1B downstream rs2853550 A G 0.29 0.65
11 2 113590390 IL1B synonymous rs1143634 A G 0.13 0.69
12 7 22766246 IL6 5upstream rs1800796 C G 0.46 0.59
13 7 22766645 IL6 5upstream rs1800795 C G 0.13 0.10
14 7 22771156 IL6 synonymous rs2069849 T C 0.05 1.00
15 11 102709425 MMP3 synonymous rs520540 A G 0.33 0.10
16 11 102713465 MMP3 synonymous rs602128 A G 0.33 0.10
17 11 102713620 MMP3 nonsynonymous rs679620 T C 0.33 0.21
18 15 89382027 ACAN synonymous rs372041880 C A 0.07 0.10
19 15 89382129 ACAN nonsynonymous rs16942318 A C 0.05 0.05
20 15 89386652 ACAN nonsynonymous rs34949187 A G 0.11 1.00
21 15 89388894 ACAN nonsynonymous rs148070768 G A 0.14 0.26
22 15 89388905 ACAN synonymous rs16942341 T C 0.07 1.00
23 15 89391160 ACAN synonymous rs2272023 C A 0.34 0.42
24 15 89392689 ACAN nonsynonymous rs144501729 A C 0.14 0.26
25 15 89398105 ACAN synonymous rs2351491 T C 0.37 0.84
26 15 89398553 ACAN nonsynonymous rs35430524 A C 0.05 0.05
27 15 89398553 ACAN nonsynonymous rs3743399 G A 0.28 0.65
28 15 89398631 ACAN nonsynonymous rs938609 A T 0.37 0.70
29 15 89400339 ACAN nonsynonymous rs2882676 A C 0.47 0.46
30 15 89400680 ACAN nonsynonymous rs28407189 G A 0.07 1.00
31 15 89400963 ACAN nonsynonymous rs79925540 T G 0.16 0.48
32 15 89401109 ACAN nonsynonymous rs4932439 A G 0.28 0.65
33 15 89401615 ACAN synonymous rs3825994 G T 0.44 0.85
34 15 89401616 ACAN nonsynonymous rs76282091 C G 0.16 0.48
35 15 89402051 ACAN nonsynonymous rs1042630 A G 0.41 0.45
36 15 89402239 ACAN synonymous rs1042631 T C 0.35 1.00
37 15 89402596 ACAN synonymous rs698621 G T 0.38 0.85
38 15 89415247 ACAN nonsynonymous rs3817428 G C 0.05 1.00
39 15 89417238 ACAN nonsynonymous rs1126823 G A 0.36 0.84
40 17 76867017 TIMP2 synonymous rs2277698 T C 0.24 0.80
41 21 28291455 ADAMTS5 3’UTR rs1444269 G A 0.26 1.00
42 21 28291846 ADAMTS5 3’UTR rs2298657 C T 0.05 1.00
43 21 28292581 ADAMTS5 3’UTR rs3746836 A G 0.25 0.81
44 21 28293095 ADAMTS5 3’UTR rs229072 T A 0.48 0.27
45 21 28293117 ADAMTS5 3’UTR rs229073 G A 0.48 0.27
46 21 28293924 ADAMTS5 3’UTR rs11700721 T C 0.12 1.00
47 21 28294090 ADAMTS5 3’UTR rs16979423 G T 0.14 0.70
48 21 28294143 ADAMTS5 3’UTR rs9978597 G T 0.04 1.00
49 21 28296135 ADAMTS5 3’UTR rs229078 T G 0.22 1.00
50 21 28296324 ADAMTS5 3’UTR rs151065 A G 0.19 0.56
51 21 28296389 ADAMTS5 synonymous rs3746839 G A 0.08 1.00
52 21 28302355 ADAMTS5 nonsynonymous rs226794 A G 0.10 0.60
53 21 28338298 ADAMTS5 nonsynonymous rs457947 G C 0.07 0.46
54 21 28338423 ADAMTS5 synonymous rs55933916 G C 0.08 0.50
55 22 33253280 TIMP3 synonymous rs9862 T C 0.50 0.46
56 22 33253292 TIMP3 synonymous rs11547635 T C 0.07 0.42
57 22 33257322 TIMP3 3’UTR rs1427384 C T 0.19 0.53
58 22 33258050 TIMP3 3’UTR rs2267184 T C 0.16 0.48
59 22 33258288 TIMP3 3’UTR rs1065314 C T 0.17 0.32
60 23 47444879 TIMP1 nonsynonymous rs5953060 C G 0.43 0.66
61 23 47444985 TIMP1 synonymous rs4898 C T 0.43 0.66
62 23 47445286 TIMP1 nonsynonymous rs6609533 G A 0.43 0.66

CHR–chromosome number, SNV—single nucleotide variant, MAF–minor allele frequency, HWE—Hardy Weinberg equilibrium, UTR–untranslated region