Statistics
| Case | Control |
|---|---|
| 3531 | 456663 |
Phenotype Definition
Replacement of normal lung tissues by fibroblasts and collagen. [DDD:tkuijpers, HPO:probinson]
Phenotype Comment
Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:1241221 | rs35705950 | - | G>T | 1076 | 103638 | 106.0 | 7.258e-25 | 1.405 |
| chr11:1161315 | rs28403537 | MUC5AC | C>T | 376 | 37575 | 25.43 | 4.596e-07 | 1.306 |
| chr1:78092479 | rs6678622 | AC118549.1 | C>T | 3151 | 379923 | 23.37 | 1.337e-06 | 1.12 |
| chr5:9828770 | rs17196719 | - | T>C | 851 | 95194 | 19.38 | 1.074e-05 | 1.175 |
| chr6:133270770 | rs912725 | - | T>C | 171 | 15813 | 19.35 | 1.086e-05 | 1.406 |
| chr2:171243489 | rs115890206 | MYO3B | A>G | 110 | 21447 | 19.34 | 1.093e-05 | 0.6568 |
| chr11:8318158 | rs61879734 | - | G>A | 395 | 41157 | 19.07 | 1.258e-05 | 1.254 |
| chr1:77989923 | rs12754946 | AK5 | T>C | 3373 | 411137 | 19.01 | 1.299e-05 | 1.107 |
| chr1:238446854 | rs259640 | - | C>T | 2696 | 372067 | 18.98 | 1.321e-05 | 0.9 |
| chr16:3630695 | rs73505408 | - | G>C | 957 | 108441 | 18.45 | 1.741e-05 | 1.161 |
| chr2:45983392 | rs1468041 | PRKCE | G>T | 113 | 9758 | 18.25 | 1.935e-05 | 1.499 |
| chr12:21490182 | rs116883595 | SLCO1A2 | T>C | 112 | 9691 | 18.14 | 2.051e-05 | 1.499 |
| chr14:78904267 | rs1861081 | NRXN3 | A>G | 1083 | 123951 | 18.01 | 2.197e-05 | 1.15 |
| chr7:144466126 | rs55680911 | TPK1 | T>C | 204 | 35242 | 17.9 | 2.33e-05 | 0.7408 |
| chr8:144936488 | rs113447557 | - | C>T | 174 | 16327 | 17.86 | 2.377e-05 | 1.383 |
| chr2:2153489 | rs10427173 | MYT1L | A>C | 623 | 68217 | 17.81 | 2.44e-05 | 1.194 |
| chr4:28948442 | rs116435495 | - | C>T | 203 | 19389 | 17.79 | 2.471e-05 | 1.351 |
| chr22:27306502 | rs117355313 | - | T>C | 91 | 18147 | 17.79 | 2.462e-05 | 0.6425 |
| chr17:16722646 | rs3844435 | - | C>T | 344 | 35489 | 17.71 | 2.579e-05 | 1.262 |
| chr19:48709674 | rs73057772 | CARD8 | A>G | 231 | 22664 | 17.61 | 2.708e-05 | 1.325 |
| chr11:1241221 | rs35705950 | - | G>T | 1042 | 100188 | 106.3 | 6.265e-25 | 1.414 |
| chr1:78092479 | rs6678622 | AC118549.1 | C>T | 3069 | 369846 | 25.41 | 4.639e-07 | 1.129 |
| chr11:1161315 | rs28403537 | MUC5AC | C>T | 359 | 35823 | 24.93 | 5.952e-07 | 1.311 |
| chr1:238446854 | rs259640 | - | C>T | 2472 | 344666 | 22.07 | 2.627e-06 | 0.8889 |
| chr14:78904267 | rs1861081 | NRXN3 | A>G | 952 | 107131 | 21.01 | 4.576e-06 | 1.174 |
| chr2:2154875 | rs7580137 | MYT1L | C>T | 254 | 24772 | 20.77 | 5.183e-06 | 1.339 |
| chr1:77989923 | rs12754946 | AK5 | T>C | 3272 | 398827 | 20.43 | 6.173e-06 | 1.115 |
| chr11:8318158 | rs61879734 | - | G>A | 389 | 40434 | 19.71 | 9.006e-06 | 1.261 |
| chr2:45983392 | rs1468041 | PRKCE | G>T | 112 | 9562 | 19.4 | 1.058e-05 | 1.52 |
| chr5:9828770 | rs17196719 | - | T>C | 823 | 92114 | 19.4 | 1.062e-05 | 1.178 |
| chr19:48709674 | rs73057772 | CARD8 | A>G | 229 | 22272 | 18.94 | 1.352e-05 | 1.34 |
| chr9:5453260 | rs822340 | CD274 | G>A | 1972 | 234569 | 18.7 | 1.527e-05 | 1.122 |
| chr2:109156595 | rs2010551 | LIMS1 | A>G | 2005 | 280776 | 18.66 | 1.56e-05 | 0.8918 |
| chr3:169878020 | rs17826507 | PHC3 | T>G | 1039 | 118552 | 18.32 | 1.866e-05 | 1.155 |
| chr5:140802677 | rs62621243 | PCDHGA1 | G>A | 195 | 18646 | 18.11 | 2.089e-05 | 1.363 |
| chr4:28948442 | rs116435495 | - | C>T | 195 | 18548 | 17.98 | 2.227e-05 | 1.362 |
| chr7:144466126 | rs55680911 | TPK1 | T>C | 198 | 34436 | 17.98 | 2.23e-05 | 0.7368 |
| chr13:39442548 | rs9603459 | FREM2 | A>C | 2833 | 344034 | 17.89 | 2.342e-05 | 1.109 |
| chr22:20306993 | rs2280117 | DGCR6L | C>T | 3402 | 416965 | 17.87 | 2.37e-05 | 1.107 |
| chr22:27306502 | rs117355313 | - | T>C | 89 | 17873 | 17.84 | 2.407e-05 | 0.639 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:1241221 | rs35705950 | - | G>T | 1042 | 20406 | 104.4 | 1.653e-24 | 1.419 |
| chr11:1161315 | rs28403537 | MUC5AC | C>T | 359 | 7307 | 24.8 | 6.36e-07 | 1.317 |
| chr2:2154875 | rs7580137 | MYT1L | C>T | 254 | 5034 | 21.1 | 4.362e-06 | 1.349 |
| chr7:144466126 | rs55680911 | TPK1 | T>C | 198 | 7186 | 19.92 | 8.064e-06 | 0.7227 |
| chr8:14576241 | rs4551356 | SGCZ | T>G | 1593 | 46522 | 19.5 | 1.005e-05 | 0.8799 |
| chr1:78092479 | rs6678622 | AC118549.1 | C>T | 3069 | 76352 | 19.49 | 1.011e-05 | 1.114 |
| chr6:25864898 | rs1165158 | SLC17A3 | C>A | 1947 | 47249 | 19.12 | 1.225e-05 | 1.126 |
| chr1:238446854 | rs259640 | - | C>T | 2472 | 70283 | 19.1 | 1.243e-05 | 0.8949 |
| chr6:25864362 | rs1165161 | SLC17A3 | C>T | 1943 | 47138 | 19.1 | 1.242e-05 | 1.126 |
| chr6:25826119 | rs6456703 | SLC17A1 | C>T | 1930 | 46822 | 19.07 | 1.257e-05 | 1.126 |
| chr14:78904267 | rs1861081 | NRXN3 | A>G | 952 | 22042 | 19.03 | 1.286e-05 | 1.168 |
| chr15:64654008 | rs62022693 | AC087632.2 | C>G | 1112 | 26055 | 18.81 | 1.442e-05 | 1.156 |
| chr4:3835798 | rs28587733 | - | A>G | 2006 | 57616 | 18.71 | 1.523e-05 | 0.8903 |
| chr6:25863605 | rs1165162 | SLC17A3 | C>T | 1948 | 47365 | 18.69 | 1.536e-05 | 1.125 |
| chr19:48709674 | rs73057772 | CARD8 | A>G | 229 | 4551 | 18.66 | 1.564e-05 | 1.345 |
| chr2:45983392 | rs1468041 | PRKCE | G>T | 112 | 1961 | 18.47 | 1.723e-05 | 1.519 |
| chr8:144936488 | rs113447557 | - | C>T | 169 | 3203 | 18.44 | 1.752e-05 | 1.407 |
| chr6:25864625 | rs1165159 | SLC17A3 | A>G | 1949 | 47360 | 18.43 | 1.765e-05 | 1.124 |
| chr6:25862466 | rs1165165 | SLC17A3 | C>T | 1828 | 44272 | 18.41 | 1.784e-05 | 1.126 |
| chr6:25859554 | rs1182814 | SLC17A3 | T>C | 1946 | 47323 | 18.38 | 1.809e-05 | 1.123 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: J841 | Other interstitial pulmonary diseases with fibrosis | 2/20 |
| ICD: J849 | Interstitial pulmonary disease, unspecified | 2/20 |