Statistics
| Case | Control |
|---|---|
| 1732 | 458462 |
Phenotype Definition
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. []
Phenotype Comment
The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity.
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 | 295 | 58032 | 25.01 | 5.717e-07 | 1.354 |
| chr18:73079722 | rs8088456 | - | A>G | 318 | 63386 | 24.86 | 6.154e-07 | 1.339 |
| chr12:89683643 | rs12304534 | - | T>C | 208 | 39319 | 22.68 | 1.91e-06 | 1.404 |
| chr5:98125530 | rs2662258 | RGMB | G>T | 1657 | 470064 | 22.46 | 2.143e-06 | 0.8552 |
| chr1:181424533 | rs3856087 | CACNA1E | G>A | 1432 | 338212 | 21.99 | 2.739e-06 | 1.171 |
| chr6:77066387 | rs2504997 | - | T>G | 569 | 123223 | 21.97 | 2.766e-06 | 1.238 |
| chr10:112886427 | rs7076761 | - | G>A | 166 | 30484 | 20.95 | 4.715e-06 | 1.437 |
| chr15:58820978 | rs4775070 | LIPC | G>A | 208 | 39800 | 20.79 | 5.115e-06 | 1.384 |
| chr17:46592179 | rs7223415 | - | G>A | 229 | 44488 | 20.66 | 5.471e-06 | 1.363 |
| chr15:94055122 | rs1489126 | - | T>C | 456 | 97167 | 20.43 | 6.192e-06 | 1.254 |
| chr7:45953573 | rs2453839 | IGFBP3 | T>C | 797 | 180496 | 20.37 | 6.37e-06 | 1.199 |
| chr7:21935986 | rs1139225 | DNAH11 | T>C | 375 | 78325 | 20.04 | 7.564e-06 | 1.276 |
| chr3:95094734 | rs569265 | - | T>C | 149 | 27154 | 19.68 | 9.149e-06 | 1.447 |
| chr10:77584795 | rs78079289 | LRMDA | A>G | 167 | 31103 | 19.66 | 9.237e-06 | 1.419 |
| chr5:426109 | rs6883555 | AHRR | C>T | 77 | 12196 | 19.63 | 9.407e-06 | 1.659 |
| chr12:99528215 | rs75453001 | ANKS1B | C>G | 166 | 30839 | 19.58 | 9.652e-06 | 1.42 |
| chr8:9409982 | rs6992432 | - | T>C | 371 | 77608 | 19.55 | 9.795e-06 | 1.274 |
| chr5:4672920 | rs12515510 | - | C>A | 383 | 80479 | 19.52 | 9.934e-06 | 1.269 |
| chr19:42263480 | rs11878734 | CEACAM6 | A>G | 100 | 16846 | 19.51 | 9.991e-06 | 1.561 |
| chr14:89362069 | rs17124948 | - | C>T | 104 | 17736 | 19.38 | 1.072e-05 | 1.546 |
| chr6:77066387 | rs2504997 | - | T>G | 494 | 106908 | 22.32 | 2.31e-06 | 1.258 |
| chr1:181424533 | rs3856087 | CACNA1E | G>A | 1315 | 314764 | 21.0 | 4.584e-06 | 1.174 |
| chr17:46592179 | rs7223415 | - | G>A | 211 | 41154 | 20.56 | 5.791e-06 | 1.379 |
| chr12:74586488 | rs76455425 | - | T>C | 127 | 22642 | 20.44 | 6.149e-06 | 1.502 |
| chr9:121393211 | rs78609160 | - | G>T | 219 | 43169 | 20.04 | 7.572e-06 | 1.366 |
| chr3:2190430 | rs73015061 | CNTN4 | T>G | 238 | 47607 | 19.65 | 9.304e-06 | 1.346 |
| chr6:87575599 | rs117614750 | - | G>A | 65 | 10021 | 19.63 | 9.398e-06 | 1.733 |
| chr14:38069192 | rs1980674 | TTC6 | C>T | 102 | 17558 | 19.44 | 1.039e-05 | 1.554 |
| chr12:99528215 | rs75453001 | ANKS1B | C>G | 161 | 30296 | 19.31 | 1.11e-05 | 1.424 |
| chr17:46524246 | rs17624460 | - | C>T | 251 | 50890 | 19.11 | 1.231e-05 | 1.332 |
| chr6:77034094 | rs16887433 | - | C>A | 483 | 106236 | 18.84 | 1.419e-05 | 1.237 |
| chr5:98125530 | rs2662258 | RGMB | G>T | 1579 | 451974 | 18.8 | 1.454e-05 | 0.8623 |
| chr16:84683871 | rs4782648 | KLHL36 | C>T | 1768 | 435117 | 18.62 | 1.592e-05 | 1.159 |
| chr4:122398739 | rs76796995 | - | G>A | 85 | 14250 | 18.2 | 1.987e-05 | 1.593 |
| chr7:45953573 | rs2453839 | IGFBP3 | T>C | 724 | 166533 | 18.12 | 2.073e-05 | 1.196 |
| chr2:227996875 | rs62277810 | COL4A4 | A>G | 150 | 55614 | 17.98 | 2.236e-05 | 0.7028 |
| chr1:181442330 | rs75258258 | CACNA1E | A>C | 1219 | 292031 | 17.96 | 2.259e-05 | 1.163 |
| chr18:73079722 | rs8088456 | - | A>G | 250 | 51175 | 17.83 | 2.422e-05 | 1.319 |
| chr11:29902098 | rs74540476 | - | G>A | 91 | 15586 | 17.67 | 2.621e-05 | 1.559 |
| chr6:83483407 | rs117045220 | - | C>A | 92 | 15860 | 17.64 | 2.672e-05 | 1.555 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr12:76135669 | rs17115602 | - | T>C | 295 | 14915 | 25.67 | 4.042e-07 | 1.362 |
| chr18:73079722 | rs8088456 | - | A>G | 318 | 16307 | 25.4 | 4.648e-07 | 1.346 |
| chr10:112886427 | rs7076761 | - | G>A | 166 | 7718 | 23.18 | 1.476e-06 | 1.468 |
| chr14:89362069 | rs17124948 | - | C>T | 104 | 4436 | 22.12 | 2.556e-06 | 1.598 |
| chr15:58820978 | rs4775070 | LIPC | G>A | 208 | 10174 | 22.0 | 2.724e-06 | 1.4 |
| chr22:29827256 | rs6006148 | - | C>T | 116 | 5091 | 21.77 | 3.076e-06 | 1.555 |
| chr15:94055122 | rs1489126 | - | T>C | 456 | 24942 | 21.63 | 3.302e-06 | 1.264 |
| chr6:77066387 | rs2504997 | - | T>G | 569 | 31909 | 21.36 | 3.815e-06 | 1.236 |
| chr7:45953573 | rs2453839 | IGFBP3 | T>C | 797 | 46457 | 21.32 | 3.888e-06 | 1.205 |
| chr17:46592179 | rs7223415 | - | G>A | 229 | 11438 | 21.12 | 4.325e-06 | 1.371 |
| chr1:181424533 | rs3856087 | CACNA1E | G>A | 1432 | 87579 | 20.99 | 4.613e-06 | 1.168 |
| chr12:89683643 | rs12304534 | - | T>C | 208 | 10279 | 20.75 | 5.222e-06 | 1.387 |
| chr7:26255722 | rs6960012 | - | C>A | 115 | 5090 | 20.65 | 5.522e-06 | 1.54 |
| chr7:21935986 | rs1139225 | DNAH11 | T>C | 375 | 20175 | 20.46 | 6.102e-06 | 1.281 |
| chr1:198438537 | rs6661360 | - | A>G | 499 | 27737 | 20.43 | 6.173e-06 | 1.245 |
| chr7:46148989 | rs2177811 | - | C>T | 589 | 33308 | 20.38 | 6.357e-06 | 1.226 |
| chr17:48894440 | rs4794190 | - | T>C | 96 | 4094 | 20.34 | 6.495e-06 | 1.596 |
| chr1:202946524 | rs10800890 | - | C>G | 206 | 10176 | 20.33 | 6.501e-06 | 1.384 |
| chr1:236085940 | rs12038310 | - | C>T | 88 | 3684 | 20.11 | 7.324e-06 | 1.624 |
| chr3:95094734 | rs569265 | - | T>C | 149 | 6975 | 20.08 | 7.409e-06 | 1.457 |
| chr17:46592179 | rs7223415 | - | G>A | 211 | 10569 | 21.03 | 4.525e-06 | 1.388 |
| chr6:77066387 | rs2504997 | - | T>G | 494 | 27779 | 20.83 | 5.024e-06 | 1.25 |
| chr12:74586488 | rs76455425 | - | T>C | 127 | 5810 | 20.79 | 5.12e-06 | 1.512 |
| chr1:181424533 | rs3856087 | CACNA1E | G>A | 1315 | 81314 | 20.71 | 5.34e-06 | 1.174 |
| chr16:84683871 | rs4782648 | KLHL36 | C>T | 1768 | 111941 | 20.42 | 6.218e-06 | 1.168 |
| chr7:46011129 | rs34046563 | - | C>A | 530 | 30162 | 20.1 | 7.332e-06 | 1.237 |
| chr3:2190430 | rs73015061 | CNTN4 | T>G | 238 | 12299 | 19.35 | 1.087e-05 | 1.346 |
| chr15:24495067 | rs138660808 | - | G>A | 69 | 2785 | 19.34 | 1.092e-05 | 1.707 |
| chr7:45953573 | rs2453839 | IGFBP3 | T>C | 724 | 42773 | 19.31 | 1.111e-05 | 1.204 |
| chr9:121393211 | rs78609160 | - | G>T | 219 | 11204 | 19.14 | 1.215e-05 | 1.36 |
| chr17:46524246 | rs17624460 | - | C>T | 251 | 13125 | 19.05 | 1.27e-05 | 1.334 |
| chr2:227996875 | rs62277810 | COL4A4 | A>G | 150 | 14512 | 18.92 | 1.36e-05 | 0.6955 |
| chr18:73079722 | rs8088456 | - | A>G | 250 | 13098 | 18.85 | 1.412e-05 | 1.332 |
| chr12:99528215 | rs75453001 | ANKS1B | C>G | 161 | 7874 | 18.36 | 1.827e-05 | 1.416 |
| chr4:122398739 | rs76796995 | - | G>A | 85 | 3662 | 18.31 | 1.877e-05 | 1.602 |
| chr6:87575599 | rs117614750 | - | G>A | 65 | 2626 | 18.24 | 1.95e-05 | 1.707 |
| chr7:135846513 | rs73168813 | - | G>C | 38 | 5093 | 18.08 | 2.119e-05 | 0.5052 |
| chr1:181442330 | rs75258258 | CACNA1E | A>C | 1219 | 75443 | 17.69 | 2.605e-05 | 1.163 |
| chr14:38069192 | rs1980674 | TTC6 | C>T | 102 | 4610 | 17.69 | 2.6e-05 | 1.528 |
| chr1:230784025 | rs72759021 | COG2 | T>C | 21 | 3463 | 17.51 | 2.862e-05 | 0.411 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: J069 | Acute upper respiratory infection, unspecified | 2/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: J958 | Other postprocedural respiratory disorders | 0/20 |
| ICD-10: J989 | Respiratory disorder, unspecified | 0/20 |