Table 2 Polymorphisms with a minor allele frequency (MAF) higher than 1% in the 1KGP.
SNP | Position in gene | Location | Polymorphism | MAF | Amino Acid Change |
|---|---|---|---|---|---|
rs34436026 | 195 | Intron 1 | R | A: 0.011 | |
rs10917571 | 224 | Intron 1 | K | T: 0.340 | |
rs4656317 | 516 | Intron 1 | S | G: 0.257 | |
rs371389552 | 664 | Intron 1 | R | A: 0.021 | |
rs138032965 | 727 | Intron 1 | R | A: 0.106 | |
rs12127809 | 756 | Intron 1 | Y | C: 0.022 | |
rs56095771 | 878 | Intron 2 | R | G: 0.095 | |
rs373184583 | 959 | Intron 2 | Y | T: 0.090 | |
rs10127939 | 1302 | Exon 3 | D | G: 0.039, A: 0.027 | L/R/H |
rs114535887 | 1321 | Exon 3 | R | A: 0.019 | |
rs150808747 | 1336 | Exon 3 | Y | T: 0.012 | |
rs57581214 | 1641 | Intron 3 | Y | T: 0.024 | |
rs452662 | 1696 | Intron 3 | K | T: 0.030 | |
rs145862532 | 1816 | Intron 3 | Y | T: 0.019 | |
rs77825069 | 1950 | Intron 3 | K | T: 0.048 | |
rs115866473 | 2336 | Intron 3 | W | T: 0.012 | |
rs4656312 | 2418 | Intron 3 | Y | T: 0.126 | |
rs148467641 | 2802 | Intron 3 | W | T: 0.014 | |
rs145392761 | 3213 | Intron 3 | K | T: 0.014 | |
rs71632960 | 3275 | Intron 3 | Y | T: 0.023 | |
rs12071216 | 3278 | Intron 3 | R | G: 0.018 | |
rs7526944 | 3678 | Intron 3 | K | T: 0.408 | |
rs149210339 | 3763 | Intron 3 | S | C: 0.025 | |
rs6687275 | 3997 | Intron 3 | M | C: 0.121 | |
rs145421193 | 4098 | Intron 3 | S | G: 0.017 | |
rs55971447 | 4308 | Intron 3 | R | A: 0.050 | |
rs10429882 | 4459 | Intron 3 | R | G: 0.408 | |
rs367724155 | 5333 | Intron 4 | M | C: 0.023 | |
rs148685469 | 5803 | Intron 4 | K | G: 0.011 | |
rs56150752 | 6229 | Intron 4 | M | C: 0.094 | |
rs426615 | 6258 | Intron 4 | K | G: 0.462 | |
rs7539036 | 6904 | 3′UTR | Y | T: 0.107 | |
rs114559215 | 6975 | 3′UTR | S | C: 0.013 | |
rs138533290 | 7256 | 3′UTR | M | C: 0.012 | |
rs545128086 | 7507 | 3′UTR | Deletion (T/−) | (-): 0.010 | |
rs116121681 | 7558 | 3′UTR | S | C: 0.012 |
