Statistics
| Case | Control |
|---|---|
| 5036 | 455158 |
Phenotype Definition
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). [HPO:probinson]
Phenotype Comment
Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:14674266 | rs75805192 | KAZN | T>C | 2668 | 220372 | 26.31 | 2.905e-07 | 1.122 |
| chr15:78802869 | rs9788721 | HYKK | T>C | 3858 | 326751 | 22.7 | 1.891e-06 | 1.101 |
| chr6:38659913 | rs12526818 | GLO1 | G>T | 198 | 24819 | 22.13 | 2.546e-06 | 0.7137 |
| chr15:78806023 | rs8034191 | HYKK | T>C | 3730 | 315687 | 22.01 | 2.716e-06 | 1.1 |
| chr15:78857986 | rs55781567 | CHRNA5 | C>G | 3750 | 317565 | 21.96 | 2.789e-06 | 1.1 |
| chr15:78814046 | rs10519203 | HYKK | A>G | 3785 | 320624 | 21.82 | 3.002e-06 | 1.1 |
| chr15:78783277 | rs11858836 | IREB2 | G>A | 3535 | 298860 | 21.57 | 3.406e-06 | 1.101 |
| chr6:155232282 | rs17085795 | TIAM2 | T>C | 671 | 50818 | 21.48 | 3.572e-06 | 1.204 |
| chr6:52779143 | rs35611659 | - | T>A | 333 | 23347 | 21.31 | 3.899e-06 | 1.295 |
| chr6:5457827 | rs9405834 | FARS2 | G>A | 4438 | 378255 | 20.75 | 5.244e-06 | 1.095 |
| chr15:78896129 | rs1317286 | CHRNA3 | A>G | 3729 | 316358 | 20.66 | 5.489e-06 | 1.097 |
| chr15:78826180 | rs931794 | HYKK | A>G | 3771 | 320257 | 20.58 | 5.715e-06 | 1.097 |
| chr15:78894339 | rs1051730 | CHRNA3 | G>A | 3660 | 310482 | 20.35 | 6.463e-06 | 1.097 |
| chr15:78882925 | rs16969968 | CHRNA5 | G>A | 3651 | 309738 | 20.32 | 6.561e-06 | 1.097 |
| chr15:78857939 | rs55853698 | CHRNA5 | T>G | 3698 | 313712 | 20.13 | 7.251e-06 | 1.096 |
| chr3:169153859 | rs7613476 | MECOM | A>T | 316 | 22143 | 20.09 | 7.384e-06 | 1.293 |
| chr14:92145041 | rs78899683 | CATSPERB | A>G | 276 | 19033 | 20.05 | 7.527e-06 | 1.315 |
| chr4:85643634 | rs113079469 | WDFY3 | T>C | 220 | 14695 | 20.02 | 7.649e-06 | 1.358 |
| chr6:38594518 | rs1569852 | BTBD9 | C>A | 195 | 24123 | 19.98 | 7.844e-06 | 0.724 |
| chr23:77758593 | rs73227631 | - | T>C | 366 | 27375 | 19.97 | 7.848e-06 | 1.272 |
| chr6:5457827 | rs9405834 | FARS2 | G>A | 4244 | 361656 | 22.34 | 2.28e-06 | 1.101 |
| chr15:78802869 | rs9788721 | HYKK | T>C | 3642 | 308935 | 21.74 | 3.114e-06 | 1.102 |
| chr6:38659913 | rs12526818 | GLO1 | G>T | 177 | 22587 | 21.72 | 3.157e-06 | 0.7026 |
| chr6:52779143 | rs35611659 | - | T>A | 328 | 22962 | 21.63 | 3.312e-06 | 1.3 |
| chr1:14674266 | rs75805192 | KAZN | T>C | 2556 | 213012 | 21.62 | 3.317e-06 | 1.113 |
| chr2:76413305 | rs72822798 | - | G>T | 1619 | 162749 | 21.18 | 4.19e-06 | 0.8819 |
| chr15:35035866 | rs60924036 | - | A>G | 159 | 10055 | 20.31 | 6.577e-06 | 1.435 |
| chr4:85757144 | rs112617042 | WDFY3 | C>G | 218 | 14608 | 19.75 | 8.837e-06 | 1.357 |
| chr15:78814046 | rs10519203 | HYKK | A>G | 3591 | 305357 | 19.72 | 8.944e-06 | 1.097 |
| chr15:78857986 | rs55781567 | CHRNA5 | C>G | 3573 | 303802 | 19.7 | 9.062e-06 | 1.097 |
| chr15:78896129 | rs1317286 | CHRNA3 | A>G | 3559 | 302724 | 19.56 | 9.755e-06 | 1.097 |
| chr2:76260305 | rs2017612 | - | C>A | 1906 | 188377 | 19.39 | 1.066e-05 | 0.8936 |
| chr15:78826180 | rs931794 | HYKK | A>G | 3583 | 305106 | 19.39 | 1.066e-05 | 1.097 |
| chr3:169153859 | rs7613476 | MECOM | A>T | 309 | 21731 | 19.37 | 1.075e-05 | 1.291 |
| chr5:11530762 | rs31784 | CTNND2 | G>T | 3322 | 281302 | 19.35 | 1.089e-05 | 1.098 |
| chr14:97169037 | rs7159711 | - | A>G | 2698 | 226586 | 19.24 | 1.152e-05 | 1.104 |
| chr4:85643634 | rs113079469 | WDFY3 | T>C | 214 | 14366 | 19.12 | 1.23e-05 | 1.354 |
| chr15:78806023 | rs8034191 | HYKK | T>C | 3572 | 303957 | 19.11 | 1.237e-05 | 1.096 |
| chr14:92145041 | rs78899683 | CATSPERB | A>G | 245 | 16774 | 19.04 | 1.277e-05 | 1.328 |
| chr15:78783277 | rs11858836 | IREB2 | G>A | 3410 | 289956 | 18.85 | 1.417e-05 | 1.096 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:14674266 | rs75805192 | KAZN | T>C | 2556 | 9197 | 24.09 | 9.185e-07 | 1.135 |
| chr11:134245284 | rs9783402 | GLB1L2 | C>T | 2843 | 10361 | 21.58 | 3.387e-06 | 1.123 |
| chr4:159360201 | rs7672392 | RXFP1 | A>C | 1885 | 6701 | 21.55 | 3.442e-06 | 1.143 |
| chr15:84708663 | rs113317779 | - | G>A | 627 | 2023 | 21.25 | 4.035e-06 | 1.242 |
| chr6:31178233 | rs9263927 | - | T>C | 4794 | 18013 | 20.21 | 6.932e-06 | 1.106 |
| chr4:29729645 | rs718337 | - | G>A | 389 | 1959 | 20.04 | 7.598e-06 | 0.7764 |
| chr2:102321648 | rs35289675 | MAP4K4 | C>T | 575 | 1853 | 19.92 | 8.075e-06 | 1.245 |
| chr7:117952319 | rs116919180 | ANKRD7 | C>T | 149 | 387 | 19.62 | 9.45e-06 | 1.532 |
| chr6:31188397 | rs9263980 | - | G>A | 4790 | 17997 | 19.56 | 9.745e-06 | 1.104 |
| chr14:83485260 | rs12436597 | - | C>T | 293 | 865 | 19.45 | 1.031e-05 | 1.351 |
| chr16:54334181 | rs117874840 | - | A>G | 350 | 1063 | 18.96 | 1.333e-05 | 1.313 |
| chr7:41576153 | rs496944 | - | C>T | 409 | 1272 | 18.89 | 1.385e-05 | 1.286 |
| chr9:138045318 | rs1778990 | - | G>A | 1175 | 5299 | 18.61 | 1.602e-05 | 0.8623 |
| chr5:2509474 | rs16869844 | - | C>T | 860 | 2906 | 18.33 | 1.854e-05 | 1.189 |
| chr6:38659913 | rs12526818 | GLO1 | G>T | 177 | 987 | 18.23 | 1.96e-05 | 0.7046 |
| chr4:103365842 | rs2169598 | - | T>C | 4460 | 16742 | 17.96 | 2.258e-05 | 1.1 |
| chr4:75270052 | rs79413284 | - | G>A | 416 | 1307 | 17.72 | 2.564e-05 | 1.273 |
| chr6:52779143 | rs35611659 | - | T>A | 328 | 997 | 17.71 | 2.576e-05 | 1.312 |
| chr7:19209526 | rs12666830 | - | G>T | 304 | 916 | 17.64 | 2.663e-05 | 1.325 |
| chr7:42677845 | rs73101611 | - | G>C | 766 | 2569 | 17.64 | 2.662e-05 | 1.197 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: J969 | Respiratory failure, unspecified | 10/20 |