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. 2014 Dec 26;9(12):e115770. doi: 10.1371/journal.pone.0115770

Table 1. Genetic variants in the PROCR gene found in 3,771 Ghanaian children.

SNP ID Position Chr19 (build37) Major/Minor Allele Region Relative positiona AA exchange Novel MAF cases (N = 1,905) MAF controls (N = 1,866)
1 ss1457457875 33758811 G/A 5′-UTR c.-1147 YES - Singleton
2 rs113601425 33758824 C/T c.-1134 0.007 0.007
3 ss1457457916 33758834 A/G c.-1124 YES 0.001 0.001
4 ss1457457937 33758983 C/G c.-975 YES 0.001 0.002
5 rs112681065 33759055 C/G c.-903 0.006 0.008
6 ss1457457959 33759070 TA/- c.-888 YES Singleton -
7 ss1457457984 33759072 CACA/- c.-886 YES Singleton -
8 ss1457458010 33759093 C/A c.-865 YES 0.002 0.001
9 rs115088244 33759104 G/T c.-854 0.077 0.084
10 rs146473859 33759128 C/G c.-830 0.001 0.001
11 ss1457458032 33759145 T/C c.-813 YES - Singleton
12 rs2069940 33759272 C/G c.-686 0.018 0.018
13 rs2069941 33759386 C/T c.-572 0.013 0.012
14 ss1457458053 33759599 A/G c.-359 YES Singleton -
15 rs113347910 33759639 C/A c.-319 0.038 0.028
16 rs372603647 33759656 C/- c.-301 - Singleton
17 rs139617753 33759867 C/G Ex1-UTR c.-91 - Singleton
18 ss1457458073 33759903 C/T c.-55 YES 0.001 0.001
19 ss1457458095 33759972 G/A Ex1 c.15 L5L YES 0.001 0.001
20 rs145917629 33759978 G/A c.21 P7P 0.004 0.003
21 ss1457458118 33760025 A/G c.68 D23G YES Singleton -
22 rs2069948 33762489 T/C In1 c.71-16 0.125 0.126
23 rs141487483 33762664 A/G Ex2 c.230 E77G 0.002 0.003
24 rs2069952 33763951 T/C In2 c.323-20 0.132 0.14
25 COSM1222127 33764042 G/A Ex3 c.395 E132K - Singleton
26 rs144485700 33764082 C/T c.434 P145L 0.003 0.001
27 rs201040729 33764137 C/T c.489 F163F Singleton -
28 rs116737636 33764292 C/T In3 c.601+43 Singleton -
29 rs148966205 33764458 T/A c.602-43 0.001 -
30 rs145801152 33764542 G/A Ex4 c.643 V215I 0.001 -
31 rs867186 33764554 A/G c.655 S219G 0.057 0.059
32 rs9574 33764632 G/C 3'-UTR c.*16 0.132 0.139
33 rs141265473 33764667 G/C c.*51 0.006 0.004
34 ss1457458141 33764697 C/G c.*81 YES Singleton -
35 ss1457458164 33764702 A/G c.*86 YES - Singleton
36 ss1457458186 33764703 C/A c.*87 YES - Singleton
37 rs146262354 33764758 C/G c.*142 0.006 0.004
38 rs115542162 33764978 C/T c.*362 0.032 0.030
39 ss1457458207 33765308 A/G c.*692 YES - 0.002
40 ss1457458230 33765332 A/G c.*710 YES - Singleton
41 ss1457458251 33765355 A/G c.*739 YES 0.001 0.001

AA, amino acid; Ex, exon; In, intron; MAF, minor allele frequency.

a

Reference sequence NCBI NM_006404.4.