Statistics
| Female Case | Female Control | % Female |
|---|---|---|
| 1714 | 248143 | 40% |
| Male Case | Male Control | % Male |
|---|---|---|
| 2540 | 207797 | 60% |
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 |
|---|---|---|---|---|---|---|---|---|
| chr6:77066387 | rs2504997 | - | T>G | 576 | 67064 | 29.88 | 4.593e-08 | 1.282 |
| chr5:32564547 | rs6879109 | SUB1 | A>C | 1662 | 262287 | 27.44 | 1.618e-07 | 0.8397 |
| chr6:77034094 | rs16887433 | - | C>A | 547 | 64555 | 25.27 | 4.984e-07 | 1.263 |
| chr17:46592179 | rs7223415 | - | G>A | 231 | 24212 | 24.47 | 7.536e-07 | 1.4 |
| chr23:12435329 | rs6640981 | FRMPD4 | A>G | 1951 | 260816 | 23.45 | 1.285e-06 | 1.175 |
| chr14:51683307 | rs11370943 | - | AC>A | 190 | 19555 | 22.43 | 2.178e-06 | 1.423 |
| chr9:4840967 | rs117056582 | RCL1 | G>T | 85 | 7465 | 21.5 | 3.54e-06 | 1.659 |
| chr5:145197565 | rs9324996 | PRELID2 | T>C | 69 | 5818 | 20.35 | 6.45e-06 | 1.724 |
| chr5:134822138 | rs61493214 | - | A>G | 474 | 56308 | 19.84 | 8.425e-06 | 1.246 |
| chr7:46011129 | rs34046563 | - | C>A | 542 | 65399 | 19.66 | 9.233e-06 | 1.23 |
| chr14:51694775 | rs7156121 | - | T>C | 250 | 27484 | 19.64 | 9.335e-06 | 1.337 |
| chr5:171093910 | rs114231717 | - | C>T | 105 | 9900 | 19.46 | 1.028e-05 | 1.546 |
| chr7:157280940 | rs35713240 | - | T>C | 1679 | 261440 | 19.32 | 1.106e-05 | 0.8636 |
| chr22:50181915 | rs138840 | BRD1 | C>T | 461 | 54827 | 18.96 | 1.336e-05 | 1.243 |
| chr23:6123171 | rs4826837 | NLGN4X | A>C | 320 | 36484 | 18.93 | 1.357e-05 | 1.291 |
| chr12:100883003 | rs76770291 | NR1H4 | C>T | 161 | 16377 | 18.83 | 1.43e-05 | 1.419 |
| chr14:51583198 | rs2999375 | - | C>T | 304 | 34479 | 18.78 | 1.468e-05 | 1.297 |
| chr4:49029974 | rs76687852 | CWH43 | C>T | 124 | 12193 | 18.7 | 1.531e-05 | 1.484 |
| chr18:38439704 | rs16973801 | - | A>G | 155 | 15894 | 18.64 | 1.581e-05 | 1.425 |
| chr4:52858627 | rs12648674 | - | G>A | 147 | 14929 | 18.56 | 1.644e-05 | 1.437 |
| chr6:77066387 | rs2504997 | - | T>G | 504 | 58015 | 29.63 | 5.236e-08 | 1.301 |
| chr6:77034094 | rs16887433 | - | C>A | 498 | 57635 | 28.31 | 1.033e-07 | 1.295 |
| chr17:46592179 | rs7223415 | - | G>A | 217 | 22347 | 26.17 | 3.128e-07 | 1.431 |
| chr5:32564547 | rs6879109 | SUB1 | A>C | 1605 | 253433 | 25.34 | 4.812e-07 | 0.8413 |
| chr23:12435329 | rs6640981 | FRMPD4 | A>G | 1812 | 242664 | 22.39 | 2.225e-06 | 1.177 |
| chr4:49029974 | rs76687852 | CWH43 | C>T | 121 | 11702 | 20.26 | 6.742e-06 | 1.516 |
| chr4:52858627 | rs12648674 | - | G>A | 130 | 12747 | 20.25 | 6.778e-06 | 1.494 |
| chr23:6123171 | rs4826837 | NLGN4X | A>C | 293 | 32896 | 20.2 | 6.963e-06 | 1.316 |
| chr11:102926689 | rs117291173 | DCUN1D5 | C>T | 128 | 12561 | 19.87 | 8.309e-06 | 1.493 |
| chr16:19303610 | rs179206 | CLEC19A | C>T | 93 | 21010 | 19.42 | 1.051e-05 | 0.6311 |
| chr18:38439704 | rs16973801 | - | A>G | 140 | 14071 | 19.25 | 1.149e-05 | 1.46 |
| chr9:4840967 | rs117056582 | RCL1 | G>T | 81 | 7266 | 19.06 | 1.268e-05 | 1.63 |
| chr14:97632059 | rs72694299 | - | C>T | 221 | 24135 | 18.98 | 1.318e-05 | 1.354 |
| chr14:94772429 | rs2228543 | SERPINA6 | G>A | 370 | 66244 | 18.97 | 1.325e-05 | 0.7867 |
| chr12:100883003 | rs76770291 | NR1H4 | C>T | 158 | 16063 | 18.93 | 1.359e-05 | 1.426 |
| chr17:60879501 | rs76928116 | MARCHF10 | G>A | 201 | 21600 | 18.61 | 1.607e-05 | 1.369 |
| chr6:76908355 | rs7762498 | - | T>G | 560 | 68586 | 18.42 | 1.775e-05 | 1.22 |
| chr22:50181915 | rs138840 | BRD1 | C>T | 443 | 52852 | 18.37 | 1.819e-05 | 1.244 |
| chr14:41358654 | rs74422787 | - | A>G | 81 | 7330 | 18.32 | 1.866e-05 | 1.615 |
| chr17:10558376 | rs17817203 | MYH3 | A>G | 108 | 10442 | 18.16 | 2.031e-05 | 1.516 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:28335820 | rs4778138 | OCA2 | A>G | 580 | 60942 | 36.97 | 1.202e-09 | 0.7649 |
| chr20:41575123 | rs4812661 | PTPRT | C>T | 1418 | 103261 | 32.26 | 1.35e-08 | 1.194 |
| chr15:28328485 | rs56839008 | OCA2 | C>T | 403 | 43736 | 31.63 | 1.862e-08 | 0.7469 |
| chr15:91817813 | rs11854719 | SV2B | G>T | 1612 | 148150 | 26.08 | 3.283e-07 | 0.8574 |
| chr23:111856885 | rs6655188 | - | G>C | 1078 | 79134 | 26.01 | 3.39e-07 | 1.225 |
| chr2:192247808 | rs34460997 | MYO1B | G>A | 120 | 15627 | 25.38 | 4.7e-07 | 0.6295 |
| chr15:28356859 | rs1129038 | HERC2 | T>C | 1204 | 113576 | 25.19 | 5.192e-07 | 0.8477 |
| chr15:28341609 | rs7164220 | OCA2 | A>C | 447 | 46413 | 24.69 | 6.743e-07 | 0.7816 |
| chr21:40382304 | rs1534829 | - | T>C | 146 | 18070 | 24.46 | 7.575e-07 | 0.6611 |
| chr19:1314074 | rs10420117 | - | C>T | 295 | 32339 | 24.15 | 8.903e-07 | 0.7447 |
| chr9:38667986 | rs111956418 | - | C>T | 121 | 6459 | 24.0 | 9.657e-07 | 1.57 |
| chr11:40615138 | rs78011266 | LRRC4C | T>C | 289 | 18107 | 23.98 | 9.726e-07 | 1.346 |
| chr15:28365618 | rs12913832 | HERC2 | G>A | 1196 | 112156 | 23.89 | 1.023e-06 | 0.851 |
| chr19:1310537 | rs12710060 | - | G>A | 263 | 29266 | 23.81 | 1.063e-06 | 0.7341 |
| chr15:27746840 | rs8027835 | GABRG3 | T>C | 307 | 33341 | 23.64 | 1.161e-06 | 0.7511 |
| chr10:49801412 | rs73302224 | ARHGAP22 | T>C | 50 | 8128 | 23.5 | 1.249e-06 | 0.5077 |
| chr2:192280374 | rs1356447 | MYO1B | A>G | 123 | 15620 | 23.42 | 1.303e-06 | 0.6442 |
| chr3:174256126 | rs1515604 | NAALADL2 | G>A | 381 | 40128 | 23.42 | 1.301e-06 | 0.7727 |
| chr11:68578928 | rs7126202 | CPT1A | T>C | 77 | 10965 | 23.19 | 1.465e-06 | 0.5781 |
| chr15:91792178 | rs8041730 | SV2B | G>C | 1302 | 121124 | 23.04 | 1.586e-06 | 0.8574 |
| chr20:41575123 | rs4812661 | PTPRT | C>T | 1313 | 92315 | 38.88 | 4.518e-10 | 1.223 |
| chr23:111856885 | rs6655188 | - | G>C | 1021 | 73891 | 24.01 | 9.591e-07 | 1.221 |
| chr8:73810796 | rs28441682 | KCNB2 | G>A | 516 | 34246 | 23.26 | 1.416e-06 | 1.253 |
| chr9:38667986 | rs111956418 | - | C>T | 119 | 6296 | 22.89 | 1.714e-06 | 1.559 |
| chr15:91817813 | rs11854719 | SV2B | G>T | 1520 | 137058 | 22.77 | 1.83e-06 | 0.8628 |
| chr20:41500679 | rs208186 | PTPRT | T>G | 1428 | 104996 | 21.89 | 2.886e-06 | 1.158 |
| chr4:102889707 | rs115994059 | BANK1 | G>T | 241 | 14640 | 21.87 | 2.923e-06 | 1.363 |
| chr4:102972771 | rs79008216 | BANK1 | A>G | 200 | 11840 | 21.39 | 3.749e-06 | 1.398 |
| chr11:40615138 | rs78011266 | LRRC4C | T>C | 284 | 17776 | 21.23 | 4.077e-06 | 1.327 |
| chr5:118688903 | rs79100932 | TNFAIP8 | C>T | 104 | 5470 | 20.52 | 5.914e-06 | 1.567 |
| chr23:111857966 | rs5973902 | - | C>T | 1216 | 90144 | 20.31 | 6.573e-06 | 1.197 |
| chr10:119014323 | rs363417 | SLC18A2 | C>T | 97 | 5069 | 19.83 | 8.463e-06 | 1.579 |
| chr11:90809449 | rs11019268 | - | G>C | 252 | 27106 | 19.73 | 8.916e-06 | 0.7501 |
| chr7:115385193 | rs11763839 | - | C>T | 256 | 15903 | 19.66 | 9.268e-06 | 1.331 |
| chr1:229074968 | rs6701969 | - | C>T | 648 | 61887 | 18.45 | 1.742e-05 | 0.8341 |
| chr17:71090653 | rs117930357 | - | G>A | 210 | 12823 | 18.3 | 1.889e-05 | 1.354 |
| chr7:26833308 | rs117299259 | SKAP2 | A>G | 158 | 9246 | 18.29 | 1.901e-05 | 1.415 |
| chr12:110836321 | rs79447402 | ANAPC7 | T>C | 185 | 11041 | 18.12 | 2.077e-05 | 1.378 |
| chr17:6463712 | rs34081857 | - | C>T | 2505 | 192405 | 18.09 | 2.112e-05 | 1.128 |
| chr12:23964045 | rs12823104 | SOX5 | T>G | 680 | 64474 | 18.07 | 2.129e-05 | 0.8386 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|