Variant |
Location |
Effect allele |
OR |
P value |
Population |
Reference |
Discovery |
Replication |
rs121907892 (W258X) |
Exon |
G |
infinity |
2×10-2
|
Japanese male |
Japanese male |
[35, 36] |
rs121907896 (R90H) |
Exon |
G |
|
|
Japanese male |
– |
[36] |
rs11231825 (H142H) |
Exon |
T |
1.631 |
3.26×10-2
|
Spanish |
– |
[37] |
rs475688 |
Intron |
C |
1.84 |
1×10-4
|
Han Chinese and Solomon Islanders |
– |
[38] |
T |
1.26 |
4.3×10-2
|
New Zealand European Caucasian |
– |
[39] |
|
|
No association |
New Zealand Polynesian |
– |
[39] |
rs505802 |
5’ intergenic |
A |
0.747 |
9.88 ×10-4
|
Han Chinese male |
– |
[40] |
|
|
No association |
German |
– |
[41] |
rs2285340 |
Intron |
A |
1.4 |
4.61×10-11
|
Japanese male |
– |
[2] |
|
|
No association |
New Zealand Polynesian |
– |
[2] |
rs734553 |
Intron |
G |
0.66 |
5.6×10-7
|
German |
Han Chinese male |
[40, 41] |
rs16890979 (V253I) |
Exon |
T |
0.59 |
7.9×10 -14
|
US Caucasian |
New Zealand Māori, Pacific Island, Caucasian, Spanish, Chinese |
[57-59] |
|
|
No association |
|
Korean, Japanese men, Han Chinese male, Czech |
[60-63] |
rs1014290 |
Intron |
C |
1.4 |
1×10-4
|
Scottish |
Japanese male, Han Chinese |
[64, 2, 61, 65, 35] |
|
|
No association |
Solomon Islanders |
– |
[65] |
rs6449213 |
Intron |
T |
1.32 |
3×10 -2
|
Scottish |
German, US Caucasian |
[64, 66, 57] |
|
|
No association |
Korean |
– |
[60] |
rs3733591 (R265H) |
Exon |
G |
1.52 |
7.3×10-4
|
Japanese male |
Han Chinese |
[61, 65] |
|
|
No association |
Solomon Islanders, New Zealander, Chinese Han and Minnan population in China |
– |
[65, 67, 68, 69] |
rs6855911 |
Intron |
G |
0.62 |
3.2×10-7
|
German |
German |
[66, 41] |
|
|
No association |
Minnan population in China |
– |
[69] |
rs12510549 |
5’ intergenic |
C |
0.67 |
5.1×10-5
|
German |
New Zealand Caucasian |
[66, 58] |
|
|
No association |
New Zealand Māori,pacific Island |
– |
[58] |
rs11722228 |
Intron |
T |
1.619 |
2.4×10-6
|
Han Chinese male |
– |
[62] |
|
|
No association |
Malaysian male |
– |
[70] |
rs3775948 |
Intron |
G |
1.61 |
5.5×10-27
|
Japanese male |
– |
[71] |
G |
0.738 |
3.09 ×10-3
|
Han Chinese male |
– |
[62] |
rs13129697 |
Intron |
T |
1.4 |
4.66 × 10-3
|
African American |
– |
[72] |
rs7663032 |
Intron |
T |
1.46 |
3.97 × 10-3
|
African American |
– |
[72] |
rs5028843 |
Intron |
A |
0.13 |
7.2 × 10-5
|
New Zealand Māori |
New Zealand, Caucasian |
[58] |
rs11942223 |
Intron |
C |
0.06 |
3.7 × 10-7
|
New Zealand Māori |
New Zealand, Caucasian |
[58] |
rs13124007 |
promoter |
C |
1.709 |
6×10-3
|
Chinese male |
– |
[74] |
rs17300741 |
Intron |
A |
1.85 |
2×10-2
|
Spanish |
– |
[37] |
G |
1.63 |
4.9×10-2
|
Japanese |
– |
[76] |
|
|
No association |
New Zealander, German, Chinese Han, Japanese male |
– |
[39, 41, 68, 40, 35] |
rs3579352 |
Intron |
C |
0.71 |
1.08×10-3
|
Chinese |
– |
[59] |
rs1183201 |
Intron |
T |
0.67 |
3× 10-6
|
Caucasian |
Han Chinese male |
[80, 40] |
|
|
No association |
German |
– |
[41] |
rs1165196 (I269T) |
Exon |
C |
0.6 |
5.5×10-3
|
Japanese male |
Caucasian, Spanish, Japanese male |
[81, 80, 37, 35] |
|
|
No association |
|
Chinese Han |
[68] |
rs1179086 |
Intron |
T |
0.69 |
1.2×10-2
|
Japanese male |
– |
[81] |
rs3757131 |
Intron |
T |
0.6 |
5.9×10-3
|
Japanese male |
– |
[81] |
rs12664474 |
5’ UTR |
G |
1.36 |
1.2 × 10-3
|
Caucasian |
– |
[80] |
|
|
No association |
Polynesian |
– |
[80] |
rs1165205 |
Intron |
A |
0.85 |
2·0×10 -3
|
White American |
– |
[57] |
|
|
No association |
Chinese Han and Minnan population |
– |
[68, 69] |
rs9358890 |
Exon |
G |
1.19 |
1.8×10-2
|
Chinese |
– |
[59] |
|
|
No association |
Caucasian, Polynesian |
– |
[80] |
rs2242206 (K258T) |
Exon |
G |
1.28 |
1.2×10-2
|
Japanese male |
– |
[86] |
rs2231137 (V12M) |
Exon |
T |
0.55 |
2.55×10-6
|
Chinese Han male |
Chinese |
[91, 59, 92] |
rs1481012 |
Intron |
G |
2.5 |
1.55×10-43
|
Chinese |
– |
[59] |
rs3114018 |
Intron |
A |
1.71 |
2.6×10-2
|
Chinese Han |
Chinese |
[93, 92] |
rs2728125 |
|
C |
2.05 |
1.5×10-27
|
Japanese male |
– |
[71] |
rs72552713 (Q126X) |
Exon |
T |
4.25 |
3.04 × 10-8
|
Japanese male |
Chinese and Japanese male |
[94, 91, 35, 95] |
rs3114020 |
promoter |
T |
1.58 |
4.8×10-2
|
Chinese Han |
– |
[93] |
C |
2.03 |
1.17×10-20
|
Japanese male |
– |
[2] |
rs2231142 (Q141K) |
Exon |
T |
1.74 |
3.3×10-15
|
White American |
Japanese, Spanish, German, Korean, Chinese, American, New Zealand Pacific Island and Caucasian |
[57, 35, 37, 41, 60, 68, 69, 71, 72, 88, 91, 92, 94-98] |
|
|
No association |
New Zealand Māori , Chinese Han |
– |
[97, 93] |
rs4148500 |
Intron |
A |
1.3 |
3.8×10-3
|
New Zealand Māori and Pacific Island |
– |
[104] |
rs179785 |
Intron |
G |
0.82 |
1.28 × 10-8
|
Han Chinese male |
– |
[107] |
rs1967017 |
promoter |
C |
0.705 |
1.6×10-2
|
male Han Chinese |
New Zealander, American |
[109, 110, 111] |
|
|
No association |
American |
– |
[112] |
rs12129861 |
5’ Intergenic |
A |
0.727 |
1.5×10-2
|
male Han Chinese |
Japanese |
[109, 113] |
|
|
No association |
Japanese and Chinese male, German |
– |
[35, 40, 41, 114] |
rs11733284 |
Intron |
A |
1.34 |
1.13×10-8
|
Japanese male |
– |
[2] |
rs1143623 |
Promoter |
G |
1.1 |
2×10-2
|
European and Polynesian |
– |
[118] |
rs2569190 |
Promoter |
A |
1.08 |
3.6×10-2
|
European and Polynesian |
– |
[118] |
rs4073 (–251T/A ) |
promoter |
T |
1.229 |
3.1×10-2
|
Chinese male |
Chinese |
[121, 122] |
rs3212227 (1188A/C ) |
3’ UTR |
A |
1.404 |
< 1×10-3
|
Chinese male |
– |
[121] |
rs7517847 |
Intron |
G |
0.826 |
4×10-2
|
Chinese Han male |
– |
[127] |
rs10889677 |
3’ UTR |
A |
1.137 |
5.9×10-2
|
Chinese Han male |
– |
[128] |
rs1800630 (-863C/A ) |
promoter |
A |
2.3 |
<1×10-3
|
male Taiwanese |
– |
[130] |
rs1024611 (-2518A/G) |
promoter |
G |
1.182 |
7×10-3
|
Chinese male |
– |
[131] |
rs3806268 |
Exon |
G |
1.83 |
<3×10-2
|
Chinese |
– |
[135] |
rs45520937 |
Exon |
A |
1.85 |
6.66×10 -9
|
Han Chinese |
– |
[137] |
rs2143956 |
Exon |
T |
1.48 |
3.58× 10 -5
|
Chinese male |
– |
[140] |
T |
1.122 |
1.2×10-2
|
European |
– |
[141] |
T |
0.8 |
1.1×10-2
|
NZ Polynesian |
– |
[141] |
rs2043211 (C10X) |
Exon |
T |
1.12 |
7×10-3
|
European |
– |
[118] |
|
|
No association |
NZ Polynesian, Chinese male, Korean male |
– |
[118, 144, 145] |
rs1653624 |
Exon |
A |
1.608 |
2×10-2
|
Chinese |
– |
[147] |
rs7958316 |
Exon |
A |
1.698 |
8×10-3
|
Chinese |
– |
[147] |
rs17525809 |
Exon |
T |
2.728 |
0.000 |
Chinese |
– |
[147] |
rs2298999 |
Intron |
T |
0.77 |
6.42×10-3
|
male Chinese Han |
– |
[153] |
rs10821905 |
5’ UTR |
A |
1.61 |
1.57×10-3
|
Chinese |
– |
[59] |
rs2941484 |
3’ UTR |
T |
1.28 |
1.08×10-3
|
Chinese |
– |
[59] |
rs4971101 |
3’ UTR |
G |
1.37 |
3.25×10-4
|
Chinese |
– |
[59] |
rs2070803 |
3’ UTR |
A |
1.22 |
3.1×10-2
|
Chinese |
– |
[59] |
rs2544390 |
Intron |
T |
1.32 |
2.5×10-2
|
Japanese male |
Chinese, New Zealander |
[35, 155, 156] |
T |
0.79 |
2×10-2
|
European |
– |
[156] |
|
|
No association |
Japanese male |
– |
[157] |
rs780093 |
Intron |
T |
1.17 |
4.7×10-4
|
American |
Han Chinese male |
[112, 160] |
rs1260326 (L446P) |
Exon |
T |
1.36 |
1.9×10-12
|
Japanese male |
Japanese male, Chinese |
[71, 2, 62, 59] |
rs6547692 |
Intron |
A |
0.696 |
2.20×10-4
|
Han Chinese male |
– |
[62] |
rs780094 |
Intron |
A |
1.518 |
4.00×10-4
|
Han Chinese male |
Chinese, Japanese male |
[160, 40, 59, 35] |
|
|
No association |
German |
– |
[41] |
rs4994 (W64R) |
Exon |
C |
1.5 |
1.30×10-2
|
Chinese male |
– |
[162] |
|
|
No association |
combined Polynesian |
– |
[163] |
rs671 (E504K) |
Exon |
G |
1.88 |
1.70×10 -18
|
Japanese male |
Japanese and Han Chinese male |
[164, 165, 62, 166] |
rs1229984 (H48R) |
Exon |
A |
1.16 |
3.70×10-2
|
Japanese male |
– |
[165] |
rs4680 (V158M) |
Exon |
A |
0.77 |
1.50×10-2
|
Chinese |
– |
[155] |
|
|
No association |
Taiwanese aborigines |
– |
[170] |
rs1137070 (D470D) |
Exon |
T |
1.46 |
2.00× 10 -4
|
Taiwanese aborigines |
– |
[170] |
rs2283725 |
Intron |
A |
1.38 |
6.00× 10 -4
|
Taiwanese aborigines |
– |
[170] |
rs5953210 |
5’ Intergenic |
G |
1.34 |
1.00× 10 -3
|
Taiwanese aborigines |
– |
[170] |
rs7688672 |
Intron |
A |
1.96 |
7.00×10-3
|
Taiwanese |
– |
[172] |
|
|
No association |
Chinese male |
– |
[173] |
rs10033237 |
Intron |
G |
1.302 |
8×10-3
|
Chinese male |
– |
[173] |
|
|
No association |
Taiwanese |
– |
[172] |
rs3756230 |
Intron |
C |
0.64 |
1.3×10-2
|
Han Chinese |
– |
[176] |
rs12498927 |
Intron |
A |
1.377 |
2.7×10-2
|
Han Chinese |
– |
[176] |
rs11726117 (M861T) |
Exon |
C |
1.44 |
3.78×10-6
|
Taiwan aborigines |
Taiwanese Han |
[178] |
|
|
No association |
male Japanese |
– |
[179] |
rs231247 (R1084R) |
Exon |
G |
1.46 |
2×10-6
|
Taiwan aborigines |
Taiwanese Han |
[178] |
rs231253 |
3’ UTR |
G |
1.45 |
3.48×10-6
|
Taiwan aborigines |
– |
[178] |
|
|
No association |
Taiwanese Han |
– |
[178] |
rs742132 |
Intron |
A |
1.3 |
1.5×10-2
|
Japanese male |
Japanese male |
[180, 181] |
|
|
No association |
German, Han Chinese |
– |
[41, 40] |
rs12236871 |
5’ UTR |
G |
0.81 |
1.48 ×10-10
|
Han Chinese male |
– |
[107] |
rs9895661 |
Intron |
C |
0.594 |
6.94×10-7
|
Han Chinese male |
– |
[62] |
rs9905274 |
Intron |
T |
0.79 |
6.45 × 10-13
|
Han Chinese male |
– |
[107] |
rs11653176 |
Intron |
T |
0.79 |
1.36 × 10-13
|
Han Chinese male |
– |
[107] |
rs4073582 |
Intron |
G |
1.66 |
6.4×10 -9
|
Japanese male |
Japanese and Han Chinese male |
[71, 2, 62] |
rs7903456 |
Intron |
A |
1.34 |
4.29×10-8
|
Japanese male |
– |
[2] |
rs2188380 |
intergenic |
T |
1.75 |
1.6×10 -23
|
Japanese male |
– |
[71] |
rs4766566 |
Intron |
T |
1.51 |
4.03 × 10 -20
|
Japanese male |
– |
[2] |