Restrictive deficit on pulmonary function testing
0002111
Normal Case/Contol ⓘ
Sibling Case/Control ⓘ
Statistics
| Case | Control |
|---|---|
| 1702 | 458492 |
Phenotype Definition
FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. [NIHR:ldaugherty]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr12:76135669 | rs17115602 | - | T>C | 294 | 58033 | 27.17 | 1.867e-07 | 1.372 |
| chr18:73079722 | rs8088456 | - | A>G | 316 | 63388 | 26.58 | 2.523e-07 | 1.354 |
| chr10:112886427 | rs7076761 | - | G>A | 165 | 30485 | 22.07 | 2.625e-06 | 1.452 |
| chr12:89683643 | rs12304534 | - | T>C | 204 | 39323 | 21.82 | 2.996e-06 | 1.399 |
| chr6:77066387 | rs2504997 | - | T>G | 560 | 123232 | 21.69 | 3.204e-06 | 1.238 |
| chr3:95094734 | rs569265 | - | T>C | 149 | 27154 | 21.54 | 3.47e-06 | 1.472 |
| chr7:45953573 | rs2453839 | IGFBP3 | T>C | 788 | 180505 | 21.53 | 3.487e-06 | 1.206 |
| chr7:21935986 | rs1139225 | DNAH11 | T>C | 372 | 78328 | 21.4 | 3.732e-06 | 1.288 |
| chr1:181424533 | rs3856087 | CACNA1E | G>A | 1408 | 338236 | 21.35 | 3.83e-06 | 1.17 |
| chr5:98125530 | rs2662258 | RGMB | G>T | 1633 | 470088 | 21.26 | 4.004e-06 | 0.8578 |
| chr15:58820978 | rs4775070 | LIPC | G>A | 205 | 39803 | 20.72 | 5.303e-06 | 1.386 |
| chr5:4672920 | rs12515510 | - | C>A | 379 | 80483 | 20.37 | 6.396e-06 | 1.277 |
| chr7:26255722 | rs6960012 | - | C>A | 115 | 20144 | 20.36 | 6.416e-06 | 1.53 |
| chr7:46148989 | rs2177811 | - | C>T | 586 | 130489 | 20.27 | 6.716e-06 | 1.225 |
| chr1:202946524 | rs10800890 | - | C>G | 205 | 39961 | 20.08 | 7.438e-06 | 1.379 |
| chr19:42263480 | rs11878734 | CEACAM6 | A>G | 99 | 16847 | 19.88 | 8.25e-06 | 1.571 |
| chr3:95212043 | rs7617133 | - | G>A | 118 | 20881 | 19.74 | 8.89e-06 | 1.513 |
| chr6:121194240 | rs2817947 | - | C>T | 135 | 24577 | 19.57 | 9.717e-06 | 1.472 |
| chr7:46166197 | rs17172633 | - | G>A | 588 | 131381 | 19.5 | 1.004e-05 | 1.22 |
| chr8:21139341 | rs12334683 | - | A>C | 103 | 17768 | 19.48 | 1.014e-05 | 1.551 |
| chr6:77066387 | rs2504997 | - | T>G | 485 | 106917 | 21.71 | 3.166e-06 | 1.257 |
| chr1:181424533 | rs3856087 | CACNA1E | G>A | 1291 | 314788 | 20.27 | 6.737e-06 | 1.173 |
| chr7:46011129 | rs34046563 | - | C>A | 527 | 118459 | 19.74 | 8.856e-06 | 1.234 |
| chr3:2190430 | rs73015061 | CNTN4 | T>G | 234 | 47611 | 19.39 | 1.064e-05 | 1.347 |
| chr17:46592179 | rs7223415 | - | G>A | 206 | 41159 | 19.21 | 1.17e-05 | 1.37 |
| chr7:45953573 | rs2453839 | IGFBP3 | T>C | 715 | 166542 | 19.16 | 1.202e-05 | 1.203 |
| chr18:73079722 | rs8088456 | - | A>G | 248 | 51177 | 19.02 | 1.294e-05 | 1.333 |
| chr14:38069192 | rs1980674 | TTC6 | C>T | 100 | 17560 | 18.85 | 1.415e-05 | 1.55 |
| chr9:121393211 | rs78609160 | - | G>T | 214 | 43174 | 18.84 | 1.422e-05 | 1.358 |
| chr6:77034094 | rs16887433 | - | C>A | 475 | 106244 | 18.7 | 1.534e-05 | 1.239 |
| chr1:181442330 | rs75258258 | CACNA1E | A>C | 1201 | 292049 | 18.69 | 1.536e-05 | 1.168 |
| chr7:69302705 | rs77210121 | AUTS2 | G>T | 57 | 8738 | 18.66 | 1.565e-05 | 1.77 |
| chr4:122398739 | rs76796995 | - | G>A | 84 | 14251 | 18.45 | 1.749e-05 | 1.602 |
| chr12:74586488 | rs76455425 | - | T>C | 123 | 22646 | 18.34 | 1.844e-05 | 1.48 |
| chr16:84683871 | rs4782648 | KLHL36 | C>T | 1737 | 435148 | 18.25 | 1.933e-05 | 1.159 |
| chr5:4672920 | rs12515510 | - | C>A | 353 | 76652 | 18.05 | 2.155e-05 | 1.27 |
| chr1:230784025 | rs72759021 | COG2 | T>C | 20 | 13395 | 18.01 | 2.194e-05 | 0.3986 |
| chr12:99528215 | rs75453001 | ANKS1B | C>G | 157 | 30300 | 17.98 | 2.234e-05 | 1.413 |
| chr6:83483407 | rs117045220 | - | C>A | 91 | 15861 | 17.95 | 2.267e-05 | 1.565 |
| chr17:46524246 | rs17624460 | - | C>T | 245 | 50896 | 17.75 | 2.518e-05 | 1.322 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:24495067 | rs138660808 | - | G>A | 68 | 379 | 20.65 | 5.515e-06 | 1.814 |
| chr4:91057794 | rs17810668 | CCSER1 | A>G | 128 | 1901 | 19.85 | 8.385e-06 | 0.6622 |
| chr1:181424533 | rs3856087 | CACNA1E | G>A | 1291 | 11685 | 19.39 | 1.067e-05 | 1.178 |
| chr13:91076853 | rs80079327 | - | G>A | 37 | 759 | 19.25 | 1.146e-05 | 0.4833 |
| chr11:14588324 | rs78854818 | PSMA1 | G>A | 221 | 1634 | 19.16 | 1.202e-05 | 1.381 |
| chr1:181442330 | rs75258258 | CACNA1E | A>C | 1201 | 10782 | 19.1 | 1.238e-05 | 1.18 |
| chr6:83483407 | rs117045220 | - | C>A | 91 | 564 | 18.98 | 1.324e-05 | 1.638 |
| chr12:99528215 | rs75453001 | ANKS1B | C>G | 157 | 1093 | 18.94 | 1.347e-05 | 1.459 |
| chr7:46011129 | rs34046563 | - | C>A | 527 | 4383 | 18.72 | 1.514e-05 | 1.242 |
| chr4:58290250 | rs74836783 | - | C>T | 231 | 1729 | 18.52 | 1.678e-05 | 1.365 |
| chr8:100720568 | rs76935623 | VPS13B | C>T | 87 | 535 | 18.5 | 1.698e-05 | 1.646 |
| chr18:73079722 | rs8088456 | - | A>G | 248 | 1885 | 18.15 | 2.046e-05 | 1.347 |
| chr6:32906586 | rs17617321 | HLA-DMB | C>T | 66 | 1114 | 17.86 | 2.376e-05 | 0.5859 |
| chr11:29902098 | rs74540476 | - | G>A | 89 | 556 | 17.73 | 2.548e-05 | 1.62 |
| chr16:84683871 | rs4782648 | KLHL36 | C>T | 1737 | 16141 | 17.71 | 2.573e-05 | 1.164 |
| chr9:116875414 | rs75186455 | - | G>T | 110 | 722 | 17.69 | 2.602e-05 | 1.543 |
| chr1:99416814 | rs72730356 | PLPPR5 | G>A | 336 | 2663 | 17.67 | 2.627e-05 | 1.291 |
| chr1:226013355 | rs1877724 | EPHX1 | C>T | 834 | 9506 | 17.63 | 2.69e-05 | 0.8397 |
| chr3:2190430 | rs73015061 | CNTN4 | T>G | 234 | 1767 | 17.55 | 2.793e-05 | 1.351 |
| chr5:143285513 | rs58021176 | - | G>T | 262 | 2021 | 17.49 | 2.882e-05 | 1.33 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: J069 | Acute upper respiratory infection, unspecified | 4/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: J958 | Other postprocedural respiratory disorders | 0/20 |
| ICD-10: J989 | Respiratory disorder, unspecified | 0/20 |