Statistics
| Case | Control |
|---|---|
| 4254 | 455940 |
Phenotype Definition
An abnormal spirometry test result. In this test, the individual being tested exhales into a tube connected to a machine called a spirometer, which measures the volume of air expired against time. Patients are asked to take a maximal inspiration and then to forcefully expel air for as long and as quickly as possible. [PMID:22347750, PMID:24695507]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr20:41575123 | rs4812661 | PTPRT | C>T | 2318 | 227545 | 27.58 | 1.51e-07 | 1.136 |
| chr1:32266026 | rs552124 | SPOCD1 | G>A | 2040 | 242859 | 25.16 | 5.266e-07 | 0.8808 |
| chr19:1310537 | rs12710060 | - | G>A | 489 | 65265 | 24.11 | 9.108e-07 | 0.7953 |
| chr2:22208693 | rs114701767 | - | T>C | 293 | 24001 | 22.79 | 1.808e-06 | 1.329 |
| chr2:22188580 | rs115329105 | - | C>T | 284 | 23167 | 22.79 | 1.807e-06 | 1.335 |
| chr14:97584792 | rs2024664 | - | A>G | 1138 | 139888 | 22.31 | 2.326e-06 | 0.8604 |
| chr1:32315147 | rs7518553 | - | C>T | 2473 | 289282 | 22.22 | 2.43e-06 | 0.8942 |
| chr4:184813864 | rs1369444 | STOX2 | G>A | 2496 | 291812 | 21.93 | 2.826e-06 | 0.8951 |
| chr20:41500679 | rs208186 | PTPRT | T>G | 2457 | 244871 | 21.35 | 3.829e-06 | 1.116 |
| chr7:8117517 | rs117893123 | GLCCI1 | G>A | 195 | 15168 | 21.24 | 4.055e-06 | 1.397 |
| chr15:28335820 | rs4778138 | OCA2 | A>G | 1088 | 133687 | 21.18 | 4.184e-06 | 0.8613 |
| chr14:97580909 | rs1950275 | - | T>C | 2172 | 255340 | 21.11 | 4.332e-06 | 0.8925 |
| chr2:34543813 | rs4670346 | - | G>A | 2762 | 320581 | 20.81 | 5.068e-06 | 0.9004 |
| chr4:48272830 | rs78113629 | - | C>A | 261 | 21338 | 20.58 | 5.719e-06 | 1.331 |
| chr1:238573691 | rs1021356 | - | G>A | 2755 | 276833 | 20.09 | 7.393e-06 | 1.109 |
| chr5:61910955 | rs115594051 | IPO11 | G>A | 183 | 14203 | 20.08 | 7.424e-06 | 1.398 |
| chr9:38667986 | rs111956418 | - | C>T | 183 | 14234 | 19.98 | 7.84e-06 | 1.397 |
| chr12:19230693 | rs4405370 | - | G>T | 112 | 18345 | 19.9 | 8.152e-06 | 0.6555 |
| chr9:4258916 | rs13286543 | GLIS3 | T>G | 1594 | 155325 | 19.86 | 8.347e-06 | 1.132 |
| chr11:40615138 | rs78011266 | LRRC4C | T>C | 452 | 39736 | 19.86 | 8.335e-06 | 1.241 |
| chr20:41575123 | rs4812661 | PTPRT | C>T | 2122 | 203595 | 33.6 | 6.771e-09 | 1.157 |
| chr10:128259966 | rs1836943 | C10orf90 | C>T | 333 | 28451 | 22.77 | 1.825e-06 | 1.307 |
| chr4:52703265 | rs6554329 | - | T>C | 2584 | 255940 | 22.46 | 2.151e-06 | 1.12 |
| chr20:41500679 | rs208186 | PTPRT | T>G | 2338 | 230513 | 21.92 | 2.844e-06 | 1.121 |
| chr1:32315147 | rs7518553 | - | C>T | 2362 | 274550 | 21.86 | 2.925e-06 | 0.8925 |
| chr4:48982359 | rs4552435 | - | T>C | 2969 | 297220 | 21.37 | 3.795e-06 | 1.111 |
| chr1:32266026 | rs552124 | SPOCD1 | G>A | 1959 | 230080 | 21.29 | 3.958e-06 | 0.8875 |
| chr2:22188580 | rs115329105 | - | C>T | 277 | 22640 | 20.77 | 5.178e-06 | 1.322 |
| chr2:34543813 | rs4670346 | - | G>A | 2640 | 304479 | 20.67 | 5.455e-06 | 0.8985 |
| chr2:22208693 | rs114701767 | - | T>C | 286 | 23492 | 20.66 | 5.486e-06 | 1.316 |
| chr4:184813864 | rs1369444 | STOX2 | G>A | 2337 | 271305 | 20.55 | 5.807e-06 | 0.8953 |
| chr4:48975168 | rs10027569 | - | T>G | 2702 | 269166 | 20.55 | 5.823e-06 | 1.112 |
| chr4:48272830 | rs78113629 | - | C>A | 258 | 20915 | 20.51 | 5.919e-06 | 1.333 |
| chr3:65268385 | rs751378 | - | A>G | 343 | 28897 | 20.31 | 6.586e-06 | 1.283 |
| chr4:49063872 | rs1051447 | CWH43 | A>C | 2632 | 261845 | 20.13 | 7.225e-06 | 1.112 |
| chr4:49061604 | rs55688634 | CWH43 | G>A | 2668 | 265534 | 20.13 | 7.247e-06 | 1.111 |
| chr4:52800883 | rs1401719 | - | T>G | 2598 | 258647 | 19.79 | 8.642e-06 | 1.111 |
| chr10:21718721 | rs35297193 | - | C>A | 243 | 19552 | 19.71 | 9.03e-06 | 1.336 |
| chr14:97580909 | rs1950275 | - | T>C | 2075 | 241790 | 19.5 | 1.008e-05 | 0.8941 |
| chr13:101759535 | rs9513853 | NALCN | C>T | 3166 | 318528 | 19.4 | 1.06e-05 | 1.104 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr7:158770423 | rs76036383 | - | C>G | 186 | 50 | 29.49 | 5.628e-08 | 0.4233 |
| chr14:68053802 | rs734028 | PLEKHH1 | C>T | 2839 | 258 | 23.57 | 1.207e-06 | 1.443 |
| chr8:73323751 | rs55675063 | - | G>A | 659 | 121 | 22.57 | 2.027e-06 | 0.6096 |
| chr11:59190120 | rs17153691 | OR5A2 | A>G | 248 | 57 | 22.34 | 2.286e-06 | 0.4968 |
| chr10:7151840 | rs2388032 | - | C>T | 984 | 166 | 21.12 | 4.307e-06 | 0.6583 |
| chr10:7145677 | rs10508323 | - | A>G | 374 | 76 | 20.46 | 6.099e-06 | 0.5584 |
| chr22:47737683 | rs112972251 | - | C>A | 136 | 36 | 20.1 | 7.368e-06 | 0.4357 |
| chr3:34057630 | rs35184092 | - | C>A | 115 | 32 | 20.07 | 7.459e-06 | 0.4146 |
| chr3:62593153 | rs72874416 | CADPS | A>C | 121 | 33 | 19.78 | 8.696e-06 | 0.423 |
| chr5:74017499 | rs1048167 | HEXB | C>T | 1031 | 170 | 19.66 | 9.27e-06 | 0.6705 |
| chr3:45282545 | rs112440960 | - | A>G | 410 | 81 | 19.52 | 9.963e-06 | 0.5756 |
| chr13:112079633 | rs1163847 | - | T>C | 3056 | 431 | 19.52 | 9.934e-06 | 0.7418 |
| chr5:121356189 | rs61734326 | SRFBP1 | T>A | 385 | 77 | 19.35 | 1.086e-05 | 0.5694 |
| chr17:37635650 | rs72825201 | CDK12 | A>C | 492 | 93 | 19.15 | 1.207e-05 | 0.5987 |
| chr15:63930237 | rs117359339 | HERC1 | T>C | 196 | 46 | 19.1 | 1.242e-05 | 0.4884 |
| chr15:63859215 | rs117482595 | USP3 | A>G | 197 | 46 | 18.84 | 1.42e-05 | 0.4907 |
| chr5:74037386 | rs16872235 | GFM2 | T>A | 1045 | 171 | 18.75 | 1.487e-05 | 0.6777 |
| chr4:19236173 | rs17563127 | - | C>T | 489 | 92 | 18.56 | 1.648e-05 | 0.602 |
| chr6:6219885 | rs114363887 | F13A1 | A>C | 131 | 34 | 18.2 | 1.989e-05 | 0.4439 |
| chr18:66399131 | rs75578427 | CCDC102B | T>C | 1273 | 201 | 18.14 | 2.048e-05 | 0.6982 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|