SupplementaryTableS2. The genetic variants of CYP2D6 detected in Han Chinese
# / Name / Region / Amino Acid Change / Gene Positiona / Flanking Sequence / HWpvalb / MAFcIn All / MAFc
In CHBd / Allele
1 / rs28670611 / 5' / / / -4417 / GTGCTGTTC Y CACCAGAAG / 0.0705 / 0.214 / 0.244 / C:T
2 / rs35775389 / 5' / / / -4282 / AAACAACAA CAA/- AAACTCACT / 0.0705 / 0.214 / 0.244 / CAA:—
3 / rs28579115 / 5' / / / -4033 / TCAGTCACG K GTGAGGGCT / 0.0175 / 0.196 / 0.232 / G:T
4 / 2D6_NEW1_-4031 / 5' / / / -4031 / CCCTCACCC R TGACTGACCT / 1 / 0.005 / 0 / G:A
5 / rs28641480 / 5' / / / -3847 / ACTGAAGCC R CTCTTCAGT / 0.0311 / 0.015 / 0.012 / G:A
6 / 2D6_NEW2_-3757 / 5' / / / -3757 / TTGCCTGTT R GAGCTGTTT / 1 / 0.005 / 0 / G:A
7 / rs34439031 / 5' / / / -3303 / TTTTTTAAA -/T TTTTTTGTAG / 0.0018 / 0.174 / 0.184 / —:T
8 / rs28842514 / 5' / / / -3137 / AGTTCTTTT K ACATGGTTC / 0.0614 / 0.02 / 0.012 / G:T
9 / 2D6_NEW3_-3125 / 5' / / / -3125 / ACACTTTC R TTAGTTCTT / 1 / 0.01 / 0.012 / G:A
10 / 2D6_NEW4_-2756 / 5' / / / -2756 / AAACTTTTT TTTT/- GTTTTTTG / 1 / 0.005 / 0 / TTTT:—
11 / rs28369142 / 5' / / / -2747 / TTCCTTTTT M AACTTTTTT / 1 / 0.204 / 0.207 / A:C
12 / 2D6_NEW5_-2654 / 5' / / / -2654 / CAGGCTCTT TCTT/- CCAATTGTT / 1 / 0.005 / 0 / TCTT:—
13 / rs28542726 / 5' / / / -2614 / CTCAGAGGG K ACTACCTCA / 0.0506 / 0.209 / 0.232 / G:T
14 / rs28566059 / 5' / / / -2528 / CTCCCATTG Y GTGTATGTC / 0.8998 / 0.408 / 0.439 / T:C
15 / rs28568508 / 5' / / / -2426 / GGATGTAC R GATTAATAT / 1 / 0.413 / 0.439 / G:A
16 / rs28360521 / 5' / / / -2183 / GCTGATCCT Y CCGAGCAGG / 1 / 0.423 / 0.439 / T:C
17 / rs28439297 / 5' / / / -2065 / GCCGCAGTC Y GGTGGAGTG / 0.0379 / 0.206 / 0.225 / C:T
18 / rs28680494 / 5' / / / -2058 / TGCTCCAGC M GCAGTCTGG / 0.0379 / 0.206 / 0.225 / A:C
19 / rs1080983 / 5' / / / -1775 / GGACTTCTA Y GGGATCATC / 1 / 0.204 / 0.207 / C:T
20 / rs1080985 / 5' / / / -1589 / GGAAGAACC S GGTCTCTAC / 0.9899 / 0.833 / 0.841 / C:G
21 / rs28588594 / 5' / / / -1431 / CTGAAAATA Y AAAAAGCTA / 0.8744 / 0.589 / 0.561 / C:T
22 / rs1080989 / 5' / / / -1000 / AGGAGGAC R ACCCTCAGG / 0.9015 / 0.577 / 0.55 / G:A
23 / rs28624811 / 5' / / / -740 / GACACTTAG R GCACACATT / 0.8725 / 0.214 / 0.212 / G:A
24 / rs28633410 / 5' / / / -678 / GATTACACA Y GCAGAAAAT / 0.9544 / 0.216 / 0.212 / C:T
25 / 2D6_-498 / 5' / / / -498 / CTGTCACTG K CACTTACCT / 1 / 0.057 / 0.075 / G:T
26 / rs35023634 / 5' / / / -232 / GTTCTTGCC S CTGCTTCCT / 1 / 0.005 / 0 / C:G
27 / rs35481113 / 5' / / / -225 / TCCAGAGGT Y CTTGCCCC / 1 / 0.005 / 0 / T:C
28 / rs28371696 / exon1 / R26H / 77 / TGCACCGGC R CCAACGCTG / 1 / 0.005 / 0 / G:A
29 / rs1065852 / exon1 / P34S / 100 / GCACGCTAC Y CACCAGGCC / 0.8439 / 0.582 / 0.575 / C:T
30 / 2D6_NEW6_125 / exon1 / G42E / 125 / CACTGCCCG R GCTGGGCAA / 1 / 0.015 / 0.012 / G:A
31 / rs1080995 / intron1 / / / 214 / GGCAGAGGT S CTGAGGATG / 0.729 / 0.204 / 0.2 / G:C
32 / rs1080996 / intron1 / / / 221 / GTCCTGAGG M TGCCCCACC / 0.729 / 0.204 / 0.2 / C:A
33 / rs1080997 / intron1 / / / 223 / GCTGAGGCT S CCCTACCAG / 0.729 / 0.204 / 0.2 / C:G
34 / rs1080998 / intron1 / / / 227 / AGGCTCCCC Y ACCAGAAGC / 0.729 / 0.204 / 0.2 / T:C
35 / rs1080999 / intron1 / / / 232 / CCCCTACCA S AGCAAACAT / 0.729 / 0.204 / 0.2 / G:C
36 / rs28695233 / intron1 / / / 233 / CCCCACCAC M AGCAAACAG / 0.729 / 0.204 / 0.2 / A:C
37 / rs1081000
(rs56011157) / intron1 / / / 245 / CAAACATGG R TGGTGGGTG / 0.729 / 0.204 / 0.2 / A:G
38 / rs28371699 / intron1 / / / 310 / TTGGGGGAC K TCCTGGAGA / 0.0181 / 0.786 / 0.775 / G:T
39 / 2D6_NEW7_450 / intron1 / / / 450 / TTATGGAGT M CAAAGTCCC / 1 / 0.005 / 0.012 / A:C
40 / rs28371701 / intron1 / / / 745 / CCCGCCCCA S GATCAGGAG / 0.6513 / 0.201 / 0.192 / C:G
41 / rs28371702
(rs28532243) / intron1 / / / 842 / AGTCTGGGG K GATCCTGGC / 0.0251 / 0.783 / 0.768 / T:G
42 / rs1081003 / exon2 / F112F / 1038 / CCTGGGTTT Y GGGCCGCGT / 0.7391 / 0.576 / 0.561 / C:T
43 / 2D6_NEW8_1495 / intron2 / / / 1495 / GTGACCAGC Y GGACAGAGC / 1 / 0.015 / 0.012 / T:C
44 / 2D6_NEW9_1528 / intron2 / / / 1528 / GACCAGGGG R AGCATAGGG / 1 / 0.005 / 0 / G:A
45 / 2D6_NEW10_1564 / intron2 / / / 1564 / TGGTGGGGC Y AATGCCTTC / 1 / 0.01 / 0 / T:C
46 / 2D6_NEW11_1567 / intron2 / / / 1567 / TGGGGCTAA K GCCTTCATG / 1 / 0.01 / 0 / T:G
47 / rs1058164 / exon3 / V136V / 1662 / CTTCTCCGT S TCCACCTTG / 0.0168 / 0.788 / 0.78 / G:C
48 / rs5030655 / exon3 / frame shift / 1708 / CTGGAGCAG T/- GGGTGACCG / 1 / 0.005 / 0.012 / T:—
49 / rs5030865 / exon3 / G169R / 1759 / AACCACTCC R GTGGGTGAT / 1 / 0.015 / 0 / G:A
50 / 2D6_1791 / intron3 / / / 1791 / CAAAGCGGG R ACTGGGAAG / 1 / 0.026 / 0.025 / A:G
51 / rs3892097
(rs1800716) / intron3 / acceptor / 1847 / CCACCCCCA R GACGCCCCT / 0.0308 / 0.015 / 0.012 / G:A
52 / rs5030866 / exon4 / G212E / 1977 / CTCAGGAGG R ACTGAAGGA / 1 / 0.005 / 0.012 / G:A
53 / rs58440431
(rs2267447) / intron4 / / / 2098 / AGGATTTGC R TAGATGGGT / 0.8439 / 0.582 / 0.575 / A:G
54 / rs28371715 / intron4 / / / 2304 / GGAGGCTGG Y ACTTGGGGA / 1 / 0.015 / 0.012 / C:T
55 / 2D6_2573 / exon5 / frame shift / 2573 / AGCCCCCCC -/C GAGACCTGA / 1 / 0.005 / 0 / —:C
56 / 2D6_NEW12_2581 / exon5 / R269Q / 2581 / AGCCCCCCC R AGACCTGAC / 0.0102 / 0.01 / 0 / G:A
57 / 2D6_NEW13_2662 / intron5 / / / 2662 / GTGGGTTGA R CGTCCCAGG / 1 / 0.005 / 0 / G:A
58 / rs28371722 / intron5 / / / 2664 / GGGTTGAGC R TCCCAGGAG / 1 / 0.015 / 0.024 / G:A
59 / 2D6_NEW14_2686 / intron5 / / / 2686 / TGAGGGGAG S CTGGGCAAA / 0.0102 / 0.01 / 0 / G:C
60 / rs16947 / exon6 / C296R / 2851 / GAGAACCTG Y GCATAGTGG / 0.8084 / 0.207 / 0.207 / C:T
61 / rs28371725 / intron6 / / / 2989 / CCGAGGGAG R AAGGGTACA / 1 / 0.041 / 0.05 / G:A
62 / rs1985842 / intron7 / / / 3385 / AGCACCAGC M CCTGGTGAT / 0.0181 / 0.786 / 0.762 / A:C
63 / rs28371728 / intron7 / / / 3409 / CAGCATGGC Y ACTGCCAGG / 1 / 0.01 / 0 / T:C
64 / rs2004511 / intron7 / / / 3583 / GAGGACCCA R CGCCTGCA / 0.6349 / 0.588 / 0.577 / A:G
65 / rs28371730 / intron7 / / / 3585 / GGACCCAAC R CCTGCAGGG / 0.729 / 0.204 / 0.2 / G:A
66 / rs28371731
(rs4987144) / intron7 / / / 3791 / CCTGCATCT Y CTGCCCAGG / 0.729 / 0.204 / 0.2 / C:T
67 / rs28371733 / exon8 / E418K / 3878 / TTCCACCCC R AACACTTCC / 1 / 0.01 / 0.012 / G:A
68 / 2D6_NEW15_3959 / intron8 / / / 3959 / GGGGAGCCC R GCTCCCTGT / 0.0103 / 0.01 / 0 / G:A
69 / rs1135832 / exon9 / S467S / 4125 / CAGCTTCTC S GTGCCCACT / 0.0311 / 0.015 / 0.012 / G:C
70 / rs1135833 / exon9 / P469A / 4129 / TTCTCGGTG S CCACTGGAC / 0.0311 / 0.015 / 0.012 / C:G
71 / rs1135835 / exon9 / T470A / 4132 / TCGGTGCCC R CTGGACAGC / 0.0311 / 0.015 / 0.012 / A:G
72 / rs1135836 / exon9 / T470T / 4134 / GGTGCCCAC Y GGACAGCCC / 0.0311 / 0.015 / 0.012 / T:C
73 / rs28371735 / exon9 / H478Y / 4156 / CCCAGCCAC Y ATGGTGTCT / 0.0311 / 0.015 / 0.012 / C:T
74 / 2D6_NEW16_4157 / exon9 / H478P / 4157 / CCAGCCACC M TGGTGTCTT / 0.0311 / 0.015 / 0.012 / A:C
75 / rs1135837 / exon9 / G479R / 4159 / GCCACTCAT S GTGTCTTCA / 0.0311 / 0.015 / 0.012 / G:C
76 / rs1135838 / exon9 / F481V / 4165 / CATGGTGTC K TCAGCTTTC / 0.0311 / 0.015 / 0.012 / T:G
77 / rs1135839 / exon9 / F481F / 4167 / TGGTGTCTT Y AGCTTTCCT / 0.0311 / 0.015 / 0.012 / T:C
78 / 2D6_4168 / exon9 / A482S / 4168 / GTGTCTTT -/A GCTTTCCTG / 0.0311 / 0.015 / 0.012 / —:A
79 / 2D6_NEW17_4174 / exon9 / L484L / 4174 / TTTGCTTTC C/- TGGTGACCC / 0.0311 / 0.015 / 0.012 / C:—
80 / rs1135840 / exon9 / T486S / 4181 / TCCTGGTGA S CCCATCCCC / 0.0291 / 0.778 / 0.762 / G:C
81 / 2D6_NEW18_4395 / 3' / / / 4395 / ATTTGAGAC A/- GGGGTATGT / 1 / 0.021 / 0.012 / A:—
82 / rs28371738 / 3' / / / 4402 / ACAGGGGTA Y GTTGAGGCT / 0.8354 / 0.563 / 0.551 / C:T
83 / 2D6_4445 / 3' / / / 4445 / CATAATCCC R TGTCCCCCA / 0.153 / 0.031 / 0.012 / A:G
84 / rs28572577
(rs12169962) / 3' / / / 4482 / CCCAGATTG R TGACAAGGA / 0.8574 / 0.217 / 0.222 / G:A
a The position in the gene is according to the reference sequenceAY545216in GenBank and nucleotide +1 is the A of the ATG-translation initiation codon.
b HWpval is the Hardy-Weinberg equilibrium p value, which is the probability that its deviation from H-W equilibrium could be explained by chance.
c MAF: minor allele frequency
dCHB: Han Chinese in Beijing from HapMap Project