Statistics
| Case | Control |
|---|---|
| 11202 | 448992 |
Phenotype Definition
Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss. [DDD:tkuijpers, HPO:probinson, PMID:20858818]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:245223608 | rs74321246 | EFCAB2 | G>T | 585 | 18344 | 35.36 | 2.746e-09 | 1.287 |
| chr6:32020512 | rs17207895 | TNXB | T>C | 244 | 13845 | 30.07 | 4.164e-08 | 0.7017 |
| chr7:128764737 | rs77506340 | - | C>T | 2822 | 103054 | 27.88 | 1.292e-07 | 1.113 |
| chr6:155757828 | rs2073011 | NOX3 | C>T | 406 | 20801 | 24.27 | 8.366e-07 | 0.78 |
| chr5:76240038 | rs17670187 | - | G>C | 1698 | 76241 | 22.87 | 1.733e-06 | 0.8854 |
| chr1:145395440 | rs16827043 | - | A>G | 2179 | 96384 | 22.68 | 1.912e-06 | 0.8974 |
| chr4:146312528 | rs116487102 | - | C>T | 470 | 15161 | 22.23 | 2.423e-06 | 1.249 |
| chr3:195838160 | rs77176301 | - | T>C | 592 | 28755 | 21.89 | 2.88e-06 | 0.8216 |
| chr4:123478716 | rs6852535 | - | G>A | 7331 | 280775 | 21.76 | 3.088e-06 | 1.069 |
| chr3:69181255 | rs111619881 | - | A>G | 481 | 15624 | 21.36 | 3.805e-06 | 1.241 |
| chr2:12839250 | rs62124754 | - | A>G | 2669 | 98344 | 21.1 | 4.352e-06 | 1.1 |
| chr18:24954026 | rs56309043 | - | C>T | 3164 | 117521 | 20.82 | 5.046e-06 | 1.092 |
| chr2:136407479 | rs1446585 | R3HDM1 | A>G | 6168 | 260230 | 20.74 | 5.266e-06 | 0.9341 |
| chr10:17219624 | rs117774392 | TRDMT1 | G>C | 494 | 16159 | 20.51 | 5.927e-06 | 1.232 |
| chr10:50839567 | rs12220022 | CHAT | C>T | 245 | 13119 | 20.37 | 6.368e-06 | 0.7471 |
| chr1:244709727 | rs76291596 | CATSPERE | G>A | 391 | 12476 | 20.36 | 6.412e-06 | 1.263 |
| chr18:52468141 | rs2311212 | RAB27B | T>C | 8180 | 341507 | 20.22 | 6.904e-06 | 0.9397 |
| chr6:144272474 | rs7770529 | PLAGL1 | C>T | 9777 | 378759 | 20.17 | 7.104e-06 | 1.062 |
| chr4:123344695 | rs17005728 | ADAD1 | A>G | 7270 | 279012 | 20.0 | 7.757e-06 | 1.066 |
| chr16:28586127 | rs7193402 | SGF29 | T>C | 8944 | 345651 | 19.93 | 8.016e-06 | 1.062 |
| chr1:245223608 | rs74321246 | EFCAB2 | G>T | 572 | 18034 | 32.74 | 1.055e-08 | 1.278 |
| chr6:32020512 | rs17207895 | TNXB | T>C | 240 | 13382 | 27.06 | 1.969e-07 | 0.7124 |
| chr5:76240038 | rs17670187 | - | G>C | 1622 | 73183 | 24.39 | 7.847e-07 | 0.8793 |
| chr7:128764737 | rs77506340 | - | C>T | 2704 | 99130 | 23.9 | 1.012e-06 | 1.107 |
| chr9:5992351 | rs12352918 | KIAA2026 | G>C | 493 | 15832 | 23.9 | 1.013e-06 | 1.253 |
| chr4:123478716 | rs6852535 | - | G>A | 6914 | 264047 | 21.93 | 2.833e-06 | 1.071 |
| chr16:28586127 | rs7193402 | SGF29 | T>C | 8663 | 333730 | 21.52 | 3.494e-06 | 1.067 |
| chr16:28593347 | rs17707300 | SGF29 | T>C | 8819 | 340277 | 20.91 | 4.802e-06 | 1.065 |
| chr2:148637462 | rs7560502 | ACVR2A | A>C | 4186 | 178848 | 20.73 | 5.298e-06 | 0.9241 |
| chr18:24954026 | rs56309043 | - | C>T | 3101 | 115050 | 20.53 | 5.86e-06 | 1.093 |
| chr3:69181255 | rs111619881 | - | A>G | 473 | 15397 | 20.37 | 6.37e-06 | 1.237 |
| chr1:244709727 | rs76291596 | CATSPERE | G>A | 385 | 12260 | 20.19 | 7.025e-06 | 1.264 |
| chr10:17219624 | rs117774392 | TRDMT1 | G>C | 485 | 15843 | 20.18 | 7.061e-06 | 1.232 |
| chr2:148628050 | rs17742246 | ACVR2A | T>G | 4207 | 179446 | 20.13 | 7.219e-06 | 0.9253 |
| chr4:123344695 | rs17005728 | ADAD1 | A>G | 6853 | 262364 | 19.84 | 8.435e-06 | 1.068 |
| chr2:135893372 | rs10445686 | RAB3GAP1 | A>G | 2083 | 91683 | 19.82 | 8.494e-06 | 0.9016 |
| chr4:34696851 | rs61790874 | - | C>G | 1510 | 67565 | 19.62 | 9.456e-06 | 0.8875 |
| chr2:135761078 | rs6729579 | MAP3K19 | A>G | 2093 | 91994 | 19.47 | 1.024e-05 | 0.9027 |
| chr20:15393915 | rs444162 | MACROD2 | A>C | 2475 | 108008 | 19.44 | 1.039e-05 | 0.9093 |
| chr14:51329335 | rs78421350 | PYGL | G>A | 976 | 34005 | 19.37 | 1.078e-05 | 1.157 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:124182799 | rs570953 | OR8D1 | G>T | 613 | 249 | 21.06 | 4.457e-06 | 0.7051 |
| chr1:79144810 | rs17102030 | - | C>T | 1628 | 583 | 20.98 | 4.648e-06 | 0.7939 |
| chr6:125789349 | rs17798687 | - | A>G | 1127 | 238 | 20.87 | 4.921e-06 | 1.392 |
| chr23:12429040 | rs138511791 | FRMPD4 | G>A | 504 | 196 | 20.82 | 5.057e-06 | 0.6771 |
| chr4:102205385 | rs2850350 | PPP3CA | C>T | 3449 | 1152 | 20.41 | 6.257e-06 | 0.8447 |
| chr4:6133925 | rs35645082 | C4orf50 | A>G | 4034 | 1330 | 19.99 | 7.789e-06 | 0.8538 |
| chr6:164360763 | rs117636572 | - | G>A | 475 | 199 | 19.78 | 8.711e-06 | 0.6847 |
| chr12:10033226 | rs10845000 | - | G>A | 8472 | 2262 | 19.53 | 9.916e-06 | 1.139 |
| chr7:62583535 | rs11768420 | - | A>G | 1270 | 464 | 19.43 | 1.043e-05 | 0.7811 |
| chr1:79115905 | rs2070123 | IFI44 | T>C | 1664 | 592 | 19.41 | 1.057e-05 | 0.8021 |
| chr3:161392576 | rs6808138 | - | C>G | 3640 | 909 | 19.41 | 1.055e-05 | 1.193 |
| chr5:25969746 | rs4429816 | - | G>A | 4473 | 1458 | 19.37 | 1.079e-05 | 0.8603 |
| chr13:113115304 | rs115108059 | - | G>T | 336 | 149 | 19.22 | 1.163e-05 | 0.6487 |
| chr4:6139210 | rs13115520 | C4orf50 | C>T | 3873 | 1276 | 19.03 | 1.285e-05 | 0.8551 |
| chr9:119887714 | rs1572156 | ASTN2 | G>T | 5664 | 1815 | 18.99 | 1.311e-05 | 0.8712 |
| chr17:71986500 | rs34328316 | - | T>C | 3691 | 925 | 18.68 | 1.542e-05 | 1.188 |
| chr4:45099376 | rs115641252 | - | G>A | 609 | 243 | 18.63 | 1.586e-05 | 0.7173 |
| chr6:78134695 | rs12209650 | - | A>G | 4517 | 1471 | 18.54 | 1.66e-05 | 0.8638 |
| chr7:20754501 | rs61664241 | ABCB5 | T>G | 871 | 331 | 18.39 | 1.8e-05 | 0.7536 |
| chr6:78088809 | rs10447323 | - | T>C | 2713 | 917 | 18.22 | 1.963e-05 | 0.8391 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: J189 | Pneumonia, unspecified | 5/20 |