Table 3.
SNP effects on odds of developing cancer (dominant genetic model)
| SCCHN (all 5 anatomic subsites, combined) | oral cavity cancer | hypopharyngeal cancer | laryngeal cancer | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| # of cases/controlsa | n cases/controls | # of cases/controls | # of cases/controls | |||||||||||||||
| Gene | SNP | major/ minor alleles |
homozygous for major allele |
one or two copies of minor allele |
Adjusted ORb (95% CI) |
p-valuec | homozygous for major allele |
one or two copies of minor allele |
Adjusted ORb (95% CI) |
p-valuec | homozygous for major allele |
one or two copies of minor allele |
Adjusted ORb (95% CI) |
p-valuec | homozygous for major allele |
one or two copies of minor allele |
Adjusted ORb (95% CI) |
p-valuec |
| ALCOHOL METABOLISM GENES | ||||||||||||||||||
| ADH1B | rs12507573 | C/A | 371/386 | 852/935 | 0.96 (0.87–1.06) | 1.00 | 57/386 | 115/935 | 0.94 (0.78–1.14) | 1.00 | 15/386 | 39/935 | 1.03 (0.74–1.42) | 1.00 | 137/386 | 305/935 | 0.94 (0.82–1.08) | 1.00 |
| rs1042026 | A/G | 712/744 | 511/578 | 1.00 (0.91–1.10) | 1.00 | 94/744 | 78/578 | 1.06 (0.88–1.26) | 1.00 | 36/744 | 18/578 | 0.89 (0.65–1.22) | 1.00 | 264/744 | 178/578 | 0.96 (0.84–1.10) | 1.00 | |
| rs7673353 | C/T | 1124/1239 | 99/83 | 1.01 (0.83–1.23) | 1.00 | 161/1239 | 11/83 | 0.88 (0.60–1.30) | 1.00 | 48/1239 | 6/83 | 0.84 (0.51–1.40) | 1.00 | 402/1239 | 40/83 | 1.04 (0.79–1.36) | 1.00 | |
| rs17028834 | T/C | 1138/1265 | 85/57 | 1.28 (1.03–1.59) | 1.00 | 159/1265 | 13/57 | 1.50 (1.01–2.25) | 1.00 | 48/1265 | 6/57 | 1.71 (1.00–2.95) | 1.00 | 408/1265 | 34/57 | 1.49 (1.11–2.01) | 0.54 | |
| rs1693457 | T/C | 803/860 | 419/461 | 1.01 (0.92–1.11) | 1.00 | 114/860 | 58/461 | 0.99 (0.82–1.19) | 1.00 | 36/860 | 18/461 | 0.94 (0.69–1.28) | 1.00 | 294/860 | 148/461 | 1.02 (0.89–1.17) | 1.00 | |
| rs1229984d | G/A | 1192/1243 | 31/79 | 0.72 (0.57–0.91) | 0.35 | 169/1243 | 3/79 | 0.63 (0.35–1.15) | 1.00 | 53/1243 | 1/79 | 0.62 (0.22–1.70) | 1.00 | 429/1243 | 13/79 | 0.79 (0.57–1.12) | 1.00 | |
| rs1159918 | G/T | 402/468 | 821/854 | 1.07 (0.97–1.18) | 1.00 | 60/468 | 112/854 | 1.03 (0.86–1.24) | 1.00 | 14/468 | 40/854 | 1.17 (0.83–1.64) | 1.00 | 154/468 | 288/854 | 1.05 (0.91–1.21) | 1.00 | |
| rs1229982 | G/T | 699/775 | 524/547 | 1.00 (0.91–1.10) | 1.00 | 97/775 | 75/547 | 0.95 (0.80–1.14) | 1.00 | 35/775 | 19/547 | 0.80 (0.59–1.09) | 1.00 | 241/775 | 201/547 | 1.05 (0.92–1.19) | 1.00 | |
| ADH1C | rs2298753 | T/C | 1002/1117 | 221/205 | 1.12 (1.00–1.27) | 1.00 | 140/1117 | 32/205 | 1.12 (0.89–1.41) | 1.00 | 46/1117 | 8/205 | 1.16 (0.78–1.75) | 1.00 | 366/1117 | 76/205 | 1.10 (0.93–1.31) | 1.00 |
| rs1614972 | C/T | 539/585 | 684/737 | 1.00 (0.92–1.09) | 1.00 | 85/585 | 87/737 | 0.93 (0.78–1.10) | 1.00 | 26/585 | 28/737 | 0.83 (0.61–1.11) | 1.00 | 192/585 | 250/737 | 0.96 (0.85–1.10) | 1.00 | |
| rs1391088 | C/A | 1045/1119 | 178/203 | 1.01 (0.89–1.14) | 1.00 | 142/1119 | 30/203 | 1.07 (0.85–1.34) | 1.00 | 50/1119 | 4/203 | 0.71 (0.41–1.20) | 1.00 | 381/1119 | 61/203 | 1.05 (0.88–1.26) | 1.00 | |
| rs1693482e | C/T | 527/585 | 694/735 | 1.05 (0.95–1.15) | 1.00 | 75/585 | 97/735 | 1.00 (0.83–1.20) | 1.00 | 24/585 | 30/735 | 1.18 (0.87–1.60) | 1.00 | 186/585 | 256/735 | 1.09 (0.95–1.25) | 1.00 | |
| rs1631460 | C/G | 519/574 | 703/748 | 1.04 (0.95–1.14) | 1.00 | 74/574 | 97/748 | 0.99 (0.83–1.19) | 1.00 | 24/574 | 30/748 | 1.17 (0.86–1.58) | 1.00 | 184/574 | 258/748 | 1.08 (0.94–1.23) | 1.00 | |
| rs11936869 | C/G | 611/645 | 612/676 | 0.98 (0.90–1.07) | 1.00 | 90/645 | 82/676 | 0.96 (0.81–1.14) | 1.00 | 28/645 | 26/676 | 0.86 (0.64–1.16) | 1.00 | 221/645 | 221/676 | 0.93 (0.82–1.06) | 1.00 | |
| ADH4 | rs29001227 | A/T | 1119/1253 | 104/69 | 1.25 (1.02–1.53) | 1.00 | 157/1253 | 15/69 | 1.31 (0.90–1.91) | 1.00 | 48/1253 | 6/69 | 1.38 (0.81–2.34) | 1.00 | 401/1253 | 41/69 | 1.39 (1.05–1.84) | 1.00 |
| rs1126672 | C/T | 720/758 | 503/564 | 1.01 (0.92–1.10) | 1.00 | 93/758 | 79/564 | 1.08 (0.90–1.28) | 1.00 | 38/758 | 16/564 | 0.82 (0.60–1.13) | 1.00 | 257/758 | 185/564 | 1.06 (0.93–1.21) | 1.00 | |
| rs4699710 | T/C | 640/684 | 583/638 | 1.01 (0.93–1.11) | 1.00 | 77/684 | 95/638 | 1.12 (0.94–1.33) | 1.00 | 34/684 | 20/638 | 0.86 (0.64–1.16) | 1.00 | 230/684 | 212/638 | 1.05 (0.93–1.20) | 1.00 | |
| rs10017466 | T/C | 556/632 | 666/690 | 1.05 (0.97–1.15) | 1.00 | 67/632 | 105/690 | 1.16 (0.97–1.38) | 1.00 | 30/632 | 24/690 | 0.90 (0.68–1.20) | 1.00 | 196/632 | 246/690 | 1.12 (0.99–1.27) | 1.00 | |
| rs1800759 | C/A | 357/412 | 866/910 | 1.02 (0.92–1.12) | 1.00 | 46/412 | 126/910 | 1.09 (0.90–1.33) | 1.00 | 13/412 | 41/910 | 1.05 (0.75–1.48) | 1.00 | 122/412 | 320/910 | 1.09 (0.94–1.25) | 1.00 | |
| rs1800761 | G/A | 750/830 | 473/492 | 1.02 (0.93–1.12) | 1.00 | 112/830 | 60/492 | 0.92 (0.77–1.10) | 1.00 | 35/830 | 19/492 | 0.90 (0.66–1.22) | 1.00 | 276/830 | 166/492 | 0.99 (0.87–1.13) | 1.00 | |
| rs3762894 | T/C | 839/906 | 384/416 | 0.98 (0.89–1.08) | 1.00 | 126/906 | 46/416 | 0.89 (0.74–1.08) | 1.00 | 38/906 | 16/416 | 0.89 (0.65–1.23) | 1.00 | 307/906 | 135/416 | 0.94 (0.82–1.08) | 1.00 | |
| ADH7 | rs284787 | C/T | 739/817 | 484/505 | 1.06 (0.96–1.16) | 1.00 | 112/817 | 60/505 | 0.94 (0.79–1.13) | 1.00 | 29/817 | 25/505 | 1.18 (0.88–1.59) | 1.00 | 264/817 | 178/505 | 1.09 (0.96–1.25) | 1.00 |
| rs894369 | C/G | 832/849 | 391/472 | 0.92 (0.84–1.01) | 1.00 | 116/849 | 56/472 | 0.96 (0.80–1.15) | 1.00 | 42/849 | 12/472 | 0.75 (0.54–1.05) | 1.00 | 304/849 | 138/472 | 0.93 (0.81–1.06) | 1.00 | |
| rs17588403 | T/A | 837/887 | 386/435 | 0.96 (0.87–1.05) | 1.00 | 116/887 | 56/435 | 0.95 (0.79–1.14) | 1.00 | 37/887 | 17/435 | 0.94 (0.69–1.28) | 1.00 | 297/887 | 145/435 | 0.96 (0.84–1.10) | 1.00 | |
| rs1154454 | T/C | 756/808 | 467/514 | 0.94 (0.86–1.04) | 1.00 | 117/808 | 55/514 | 0.80 (0.66–0.98) | 1.00 | 37/808 | 17/514 | 0.69 (0.49–0.97) | 1.00 | 260/808 | 182/514 | 1.00 (0.87–1.15) | 1.00 | |
| rs1154456 | T/C | 577/629 | 646/693 | 1.03 (0.94–1.13) | 1.00 | 86/629 | 86/693 | 0.97 (0.81–1.15) | 1.00 | 26/629 | 28/693 | 1.04 (0.78–1.40) | 1.00 | 207/629 | 235/693 | 1.07 (0.94–1.21) | 1.00 | |
| rs1154460 | G/A | 329/377 | 891/944 | 1.04 (0.95–1.15) | 1.00 | 49/377 | 123/944 | 1.03 (0.85–1.25) | 1.00 | 13/377 | 41/944 | 1.11 (0.80–1.55) | 1.00 | 118/377 | 322/944 | 1.12 (0.97–1.29) | 1.00 | |
| rs971074 | G/A | 943/1027 | 280/295 | 1.01 (0.91–1.12) | 1.00 | 131/1027 | 41/295 | 1.09 (0.89–1.34) | 1.00 | 39/1027 | 15/295 | 1.14 (0.83–1.58) | 1.00 | 348/1027 | 94/295 | 1.00 (0.85–1.16) | 1.00 | |
| rs1573496d | C/G | 1056/1117 | 166/205 | 0.99 (0.87–1.12) | 1.00 | 147/1117 | 25/205 | 1.09 (0.86–1.39) | 1.00 | 48/1117 | 6/205 | 0.91 (0.57–1.44) | 1.00 | 383/1117 | 59/205 | 1.02 (0.85–1.23) | 1.00 | |
| ALDH2 | rs4767939 | A/G | 694/806 | 528/516 | 1.08 (0.98–1.18) | 1.00 | 101/806 | 71/516 | 1.04 (0.87–1.25) | 1.00 | 29/806 | 25/516 | 1.10 (0.81–1.49) | 1.00 | 238/806 | 204/516 | 1.12 (0.98–1.28) | 1.00 |
| rs2238151 | T/C | 364/482 | 855/837 | 1.13 (1.03–1.25) | 0.84 | 51/482 | 121/837 | 1.18 (0.97–1.44) | 1.00 | 16/482 | 38/837 | 1.00 (0.70–1.42) | 1.00 | 117/482 | 323/837 | 1.24 (1.07–1.43) | 0.32 | |
| rs7312055 | G/A | 1081/1201 | 142/121 | 0.93 (0.78–1.12) | 1.00 | 150/1201 | 22/121 | 0.95 (0.67–1.34) | 1.00 | 44/1201 | 10/121 | 0.92 (0.57–1.50) | 1.00 | 390/1201 | 52/121 | 0.87 (0.67–1.12) | 1.00 | |
| rs2158029 | G/A | 1166/1269 | 57/53 | 0.95 (0.75–1.19) | 1.00 | 165/1269 | 7/53 | 0.76 (0.48–1.21) | 1.00 | 50/1269 | 4/53 | 0.98 (0.52–1.82) | 1.00 | 419/1269 | 23/53 | 0.99 (0.72–1.36) | 1.00 | |
| rs16941667 | C/T | 985/1097 | 238/224 | 1.10 (0.98–1.23) | 1.00 | 142/1097 | 30/224 | 1.11 (0.88–1.40) | 1.00 | 41/1097 | 13/224 | 1.24 (0.88–1.75) | 1.00 | 347/1097 | 95/224 | 1.17 (0.99–1.37) | 1.00 | |
| rs16941669 | T/G | 984/1084 | 239/236 | 1.06 (0.95–1.19) | 1.00 | 134/1084 | 38/236 | 1.20 (0.97–1.48) | 1.00 | 45/1084 | 9/236 | 1.00 (0.68–1.47) | 1.00 | 358/1084 | 84/236 | 1.10 (0.93–1.29) | 1.00 | |
| CYP2E1 | rs3813865 | G/C | 1098/1215 | 125/106 | 1.08 (0.92–1.27) | 1.00 | 155/1215 | 17/106 | 1.16 (0.85–1.58) | 1.00 | 48/1215 | 6/106 | 1.09 (0.67–1.77) | 1.00 | 393/1215 | 49/106 | 1.11 (0.89–1.38) | 1.00 |
| rs3813867d | G/C | 1139/1237 | 83/84 | 0.97 (0.82–1.16) | 1.00 | 160/1237 | 12/84 | 0.98 (0.70–1.38) | 1.00 | 51/1237 | 3/84 | 0.87 (0.47–1.62) | 1.00 | 405/1237 | 36/84 | 1.09 (0.86–1.39) | 1.00 | |
| rs8192772 | T/C | 1023/1114 | 199/208 | 1.07 (0.95–1.21) | 1.00 | 142/1114 | 30/208 | 1.09 (0.87–1.38) | 1.00 | 44/1114 | 9/208 | 1.11 (0.75–1.64) | 1.00 | 363/1114 | 79/208 | 1.14 (0.96–1.35) | 1.00 | |
| rs915908 | G/A | 974/1006 | 249/316 | 0.93 (0.84–1.04) | 1.00 | 139/1006 | 33/316 | 0.92 (0.74–1.14) | 1.00 | 46/1006 | 8/316 | 0.77 (0.51–1.15) | 1.00 | 362/1006 | 80/316 | 0.87 (0.74–1.02) | 1.00 | |
| rs915909 | C/T | 1164/1271 | 58/46 | 1.00 (0.79–1.27) | 1.00 | 164/1271 | 7/46 | 0.88 (0.54–1.44) | 1.00 | 50/1271 | 4/46 | 1.09 (0.60–1.99) | 1.00 | 421/1271 | 21/46 | 0.92 (0.66–1.28) | 1.00 | |
| rs7092584 | C/T | 959/1052 | 262/269 | 1.05 (0.95–1.17) | 1.00 | 131/1052 | 41/269 | 1.12 (0.91–1.38) | 1.00 | 45/1052 | 8/269 | 0.86 (0.58–1.28) | 1.00 | 340/1052 | 101/269 | 1.11 (0.96–1.30) | 1.00 | |
| rs743535 | C/T | 966/1071 | 248/243 | 1.06 (0.95–1.19) | 1.00 | 134/1071 | 38/243 | 1.09 (0.88–1.35) | 1.00 | 40/1071 | 13/243 | 1.18 (0.84–1.66) | 1.00 | 342/1071 | 96/243 | 1.10 (0.94–1.29) | 1.00 | |
| rs2249695 | C/T | 622/682 | 600/639 | 0.93 (0.85–1.03) | 1.00 | 87/682 | 84/639 | 0.93 (0.77–1.12) | 1.00 | 24/682 | 30/639 | 0.95 (0.68–1.33) | 1.00 | 223/682 | 219/639 | 0.93 (0.81–1.08) | 1.00 | |
| rs28969387 | A/T | 1198/1302 | 25/20 | 0.98 (0.70–1.37) | 1.00 | 170/1302 | 2/20 | 0.69 (0.31–1.56) | 1.00 | 54/1302 | 0/20 | ----- | 1.00 | 429/1302 | 13/20 | 1.08 (0.70–1.68) | 1.00 | |
| rs11101812 | T/C | 1194/1300 | 26/20 | 1.11 (0.79–1.56) | 1.00 | 170/1300 | 2/20 | 0.79 (0.35–1.77) | 1.00 | 51/1300 | 3/20 | 1.79 (0.86–3.71) | 1.00 | 427/1300 | 14/20 | 1.38 (0.89–2.13) | 1.00 | |
| OXIDATIVE STRESS METABOLISM GENES | ||||||||||||||||||
| CAT | rs1049982d | C/T | 521/589 | 700/726 | 1.02 (0.93–1.11) | 1.00 | 78/589 | 94/726 | 0.95 (0.80–1.14) | 1.00 | 27/589 | 26/726 | 0.82 (0.61–1.11) | 1.00 | 182/589 | 260/726 | 1.05 (0.92–1.19) | 1.00 |
| GPX1 | rs8179172 | T/A | 1172/1271 | 51/51 | 0.92 (0.73–1.17) | 1.00 | 166/1271 | 6/51 | 0.86 (0.52–1.41) | 1.00 | 51/1271 | 3/51 | 0.67 (0.32–1.39) | 1.00 | 423/1271 | 19/51 | 0.86 (0.62–1.19) | 1.00 |
| rs1800668 | C/T | 635/672 | 588/646 | 1.04 (0.95–1.14) | 1.00 | 84/672 | 88/646 | 1.14 (0.96–1.35) | 1.00 | 29/672 | 25/646 | 1.01 (0.76–1.35) | 1.00 | 237/672 | 205/646 | 1.03 (0.91–1.17) | 1.00 | |
| rs3811699 | A/G | 609/649 | 614/673 | 1.04 (0.95–1.13) | 1.00 | 77/649 | 95/673 | 1.16 (0.98–1.38) | 1.00 | 26/649 | 28/673 | 1.07 (0.81–1.43) | 1.00 | 230/649 | 212/673 | 1.02 (0.90–1.16) | 1.00 | |
| rs3448 | C/T | 648/729 | 575/593 | 1.03 (0.95–1.13) | 1.00 | 96/729 | 76/593 | 1.02 (0.86–1.21) | 1.00 | 27/729 | 27/593 | 1.18 (0.88–1.58) | 1.00 | 222/729 | 220/593 | 1.12 (0.99–1.28) | 1.00 | |
| GPX2 | rs11623705 | G/T | 996/1069 | 227/253 | 1.00 (0.89–1.12) | 1.00 | 139/1069 | 33/253 | 0.99 (0.79–1.23) | 1.00 | 44/1069 | 10/253 | 1.01 (0.70–1.47) | 1.00 | 360/1069 | 82/253 | 1.01 (0.86–1.19) | 1.00 |
| rs2412065 | G/C | 694/733 | 529/589 | 0.94 (0.86–1.03) | 1.00 | 96/733 | 76/589 | 0.94 (0.79–1.13) | 1.00 | 32/733 | 22/589 | 0.81 (0.60–1.10) | 1.00 | 251/733 | 191/589 | 0.97 (0.85–1.11) | 1.00 | |
| rs2737844 | C/T | 493/511 | 725/806 | 0.89 (0.81–0.99) | 1.00 | 72/511 | 98/806 | 0.86 (0.71–1.04) | 1.00 | 20/511 | 34/806 | 0.87 (0.63–1.21) | 1.00 | 177/511 | 265/806 | 0.91 (0.80–1.05) | 1.00 | |
| GPX4 | rs757229d | G/C | 300/358 | 922/963 | 1.03 (0.93–1.14) | 1.00 | 39/358 | 133/963 | 1.08 (0.88–1.32) | 1.00 | 13/358 | 41/963 | 0.93 (0.66–1.31) | 1.00 | 103/358 | 339/963 | 1.04 (0.90–1.21) | 1.00 |
| SOD1 | rs11910115 | A/C | 1161/1257 | 62/65 | 0.93 (0.74–1.17) | 1.00 | 165/1257 | 7/65 | 0.76 (0.48–1.20) | 1.00 | 51/1257 | 3/65 | 0.80 (0.41–1.58) | 1.00 | 418/1257 | 24/65 | 0.94 (0.69–1.30) | 1.00 |
| rs4998557 | G/A | 829/959 | 393/360 | 1.09 (0.99–1.21) | 1.00 | 123/959 | 49/360 | 0.98 (0.80–1.21) | 1.00 | 31/959 | 23/360 | 1.28 (0.93–1.78) | 1.00 | 288/959 | 154/360 | 1.17 (1.01–1.36) | 1.00 | |
| rs10432782 | T/G | 874/992 | 348/329 | 1.07 (0.97–1.18) | 1.00 | 131/992 | 41/329 | 0.93 (0.76–1.15) | 1.00 | 34/992 | 20/329 | 1.24 (0.90–1.71) | 1.00 | 306/992 | 136/329 | 1.13 (0.97–1.31) | 1.00 | |
| rs2070424 | A/G | 1003/1120 | 220/202 | 1.06 (0.94–1.20) | 1.00 | 142/1120 | 30/202 | 1.02 (0.80–1.30) | 1.00 | 46/1120 | 8/202 | 0.85 (0.55–1.31) | 1.00 | 354/1120 | 88/202 | 1.09 (0.92–1.29) | 1.00 | |
| rs1041740 | C/T | 682/705 | 541/617 | 0.98 (0.90–1.07) | 1.00 | 95/705 | 77/617 | 1.00 (0.84–1.20) | 1.00 | 36/705 | 18/617 | 0.82 (0.60–1.12) | 1.00 | 250/705 | 192/617 | 0.97 (0.85–1.11) | 1.00 | |
| SOD2 | rs4342445 | G/A | 752/850 | 471/472 | 1.11 (1.02–1.22) | 1.00 | 95/850 | 77/472 | 1.33 (1.12–1.59) | 0.09 | 42/850 | 12/472 | 0.84 (0.60–1.18) | 1.00 | 268/850 | 174/472 | 1.16 (1.01–1.32) | 1.00 |
| rs2842980 | A/T | 715/807 | 508/515 | 1.02 (0.94–1.12) | 1.00 | 97/807 | 75/515 | 1.05 (0.88–1.25) | 1.00 | 31/807 | 23/515 | 0.98 (0.73–1.31) | 1.00 | 269/807 | 173/515 | 0.97 (0.85–1.10) | 1.00 | |
| rs8031 | T/A | 387/382 | 836/940 | 0.98 (0.89–1.08) | 1.00 | 52/382 | 120/940 | 1.00 (0.83–1.21) | 1.00 | 16/382 | 38/940 | 1.12 (0.80–1.55) | 1.00 | 140/382 | 302/940 | 1.02 (0.89–1.17) | 1.00 | |
| rs5746134 | C/T | 1125/1257 | 98/65 | 1.20 (0.98–1.48) | 1.00 | 162/1257 | 10/65 | 0.98 (0.64–1.50) | 1.00 | 43/1257 | 11/65 | 2.14 (1.25–3.67) | 0.34 | 409/1257 | 33/65 | 1.13 (0.84–1.50) | 1.00 | |
| rs2758331 | C/A | 422/419 | 801/903 | 0.99 (0.90–1.09) | 1.00 | 61/419 | 111/903 | 0.99 (0.82–1.20) | 1.00 | 17/419 | 37/903 | 1.22 (0.88–1.70) | 1.00 | 150/419 | 292/903 | 1.04 (0.91–1.20) | 1.00 | |
a
Cases and controls do not sum to 1227 and 1325, respectively, because 4 cases and 3 controls are missing information on duration of cigarette smoking, and because a few subjects lack genotype information for some SNPs
b
Conditional logistic regression models for estimating main effect of each SNP were conditioned on sex, race, and age category, and adjusted for continuous smoking duration rounded to whole years. Odds ratios are for those with one or more copies of the minor allele versus the referent group of those homozygous for the major allele (dominant genetic model).
c
Bonferroni-corrected for 64 statistical tests
d
Not a tag SNP; included in analyses because previous studies had examined it. rs1229984 and rs1573496 have missense variants; rs3813867 and rs757229 are located 5' near the gene; rs1049982 has a synonymous variant and is located in exon 1.
e
Selected as a tag SNP, but had also been studied in the literature because it has a missense variant.