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.
Reference sequence NCBI NM_006404.4.