Statistics
| Case | Control |
|---|---|
| 3064 | 457130 |
Phenotype Definition
Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping. []
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 590 | 66468 | 40.32 | 2.153e-10 | 1.315 |
| chr6:38681447 | rs7774234 | - | T>C | 147 | 13219 | 34.66 | 3.931e-09 | 1.63 |
| chr4:2140090 | rs11940893 | POLN | T>C | 335 | 35808 | 32.35 | 1.288e-08 | 1.376 |
| chr5:33951116 | rs35397 | SLC45A2 | T>G | 748 | 89360 | 31.78 | 1.728e-08 | 1.245 |
| chr14:84194617 | rs78603638 | - | C>A | 129 | 11540 | 30.83 | 2.821e-08 | 1.635 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 495 | 56497 | 30.16 | 3.975e-08 | 1.293 |
| chr7:30302835 | rs6959001 | - | G>T | 365 | 40177 | 28.54 | 9.165e-08 | 1.334 |
| chr10:30264550 | rs11007836 | - | G>A | 157 | 15301 | 25.8 | 3.778e-07 | 1.506 |
| chr15:45556163 | rs8023604 | SLC28A2 | T>C | 135 | 12776 | 25.08 | 5.513e-07 | 1.544 |
| chr3:140598514 | rs78555646 | - | C>G | 117 | 10848 | 23.98 | 9.72e-07 | 1.577 |
| chr14:99683246 | rs11160504 | BCL11B | T>C | 2655 | 413840 | 23.89 | 1.02e-06 | 0.8845 |
| chr14:62256335 | rs10137051 | SNAPC1 | G>T | 563 | 67130 | 23.62 | 1.175e-06 | 1.239 |
| chr19:475667 | rs61277751 | - | G>T | 398 | 45640 | 23.12 | 1.524e-06 | 1.283 |
| chr18:45941307 | rs1873128 | - | A>C | 296 | 32634 | 23.05 | 1.575e-06 | 1.331 |
| chr15:58645721 | rs8035357 | ALDH1A2 | T>C | 992 | 124805 | 23.01 | 1.615e-06 | 1.18 |
| chr8:139976807 | rs2318823 | - | G>A | 749 | 91857 | 22.95 | 1.665e-06 | 1.205 |
| chr2:152804509 | rs56102216 | AC068547.1 | A>G | 570 | 68374 | 22.9 | 1.702e-06 | 1.234 |
| chr6:135025753 | rs9389206 | - | A>G | 2734 | 369382 | 22.8 | 1.795e-06 | 1.127 |
| chr18:8967695 | rs9953139 | - | G>T | 200 | 20805 | 22.76 | 1.834e-06 | 1.408 |
| chr12:45466518 | rs2643153 | - | T>C | 164 | 16460 | 22.71 | 1.888e-06 | 1.457 |
| chr4:2140090 | rs11940893 | POLN | T>C | 272 | 29602 | 27.89 | 1.287e-07 | 1.388 |
| chr17:63438408 | rs11656254 | - | C>T | 480 | 58597 | 20.72 | 5.304e-06 | 1.242 |
| chr2:64864450 | rs74591415 | SERTAD2 | T>C | 155 | 16132 | 20.33 | 6.507e-06 | 1.443 |
| chr4:174835056 | rs116672710 | - | T>A | 193 | 20993 | 20.14 | 7.185e-06 | 1.389 |
| chr6:170463932 | rs12215518 | - | G>A | 833 | 107400 | 19.9 | 8.16e-06 | 1.181 |
| chr8:131658342 | rs68137526 | - | C>T | 299 | 34683 | 19.58 | 9.66e-06 | 1.3 |
| chr8:55803742 | rs7824078 | - | G>A | 1978 | 271321 | 19.43 | 1.043e-05 | 1.128 |
| chr12:102158764 | rs76889468 | GNPTAB | G>A | 131 | 13363 | 19.22 | 1.162e-05 | 1.472 |
| chr16:67295020 | rs12447443 | SLC9A5 | C>T | 128 | 13032 | 19.21 | 1.173e-05 | 1.479 |
| chr4:27278507 | rs7672128 | - | G>C | 1783 | 243696 | 18.73 | 1.506e-05 | 1.13 |
| chr15:58645721 | rs8035357 | ALDH1A2 | T>C | 887 | 115560 | 18.58 | 1.627e-05 | 1.17 |
| chr2:100365061 | rs6751316 | AFF3 | C>T | 942 | 123325 | 18.53 | 1.672e-05 | 1.165 |
| chr14:72639496 | Affx-10880390 | RGS6 | C>T | 1267 | 169485 | 18.48 | 1.716e-05 | 1.146 |
| chr6:85266965 | rs17792917 | - | C>T | 1609 | 218823 | 18.47 | 1.728e-05 | 1.133 |
| chr1:44671906 | rs79717054 | - | G>A | 272 | 31410 | 18.4 | 1.795e-05 | 1.305 |
| chr2:242129524 | rs34069570 | ANO7 | G>A | 235 | 26623 | 18.34 | 1.848e-05 | 1.33 |
| chr3:76484183 | rs3849491 | ROBO2 | C>T | 2760 | 436339 | 18.19 | 2.001e-05 | 0.896 |
| chr23:119511311 | rs12839997 | ATP1B4 | A>G | 2018 | 330744 | 18.14 | 2.054e-05 | 1.144 |
| chr20:41454516 | rs78205585 | PTPRT | C>A | 756 | 97415 | 18.0 | 2.207e-05 | 1.18 |
| chr14:42547717 | rs17618512 | - | A>G | 280 | 32579 | 17.91 | 2.313e-05 | 1.296 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr4:2140090 | rs11940893 | POLN | T>C | 272 | 8990 | 26.74 | 2.328e-07 | 1.383 |
| chr8:55803742 | rs7824078 | - | G>A | 1978 | 81852 | 20.61 | 5.636e-06 | 1.134 |
| chr4:174835056 | rs116672710 | - | T>A | 193 | 6339 | 20.2 | 6.96e-06 | 1.394 |
| chr17:63438408 | rs11656254 | - | C>T | 480 | 17776 | 19.93 | 8.036e-06 | 1.239 |
| chr15:58645721 | rs8035357 | ALDH1A2 | T>C | 887 | 34812 | 19.58 | 9.626e-06 | 1.176 |
| chr6:170463932 | rs12215518 | - | G>A | 833 | 32517 | 19.5 | 1.007e-05 | 1.181 |
| chr6:85266965 | rs17792917 | - | C>T | 1609 | 66068 | 19.13 | 1.223e-05 | 1.137 |
| chr2:100365061 | rs6751316 | AFF3 | C>T | 942 | 37224 | 19.01 | 1.299e-05 | 1.169 |
| chr8:131658342 | rs68137526 | - | C>T | 299 | 10531 | 18.72 | 1.511e-05 | 1.296 |
| chr1:44671906 | rs79717054 | - | G>A | 272 | 9500 | 18.13 | 2.062e-05 | 1.306 |
| chr9:14299594 | rs17213398 | NFIB | T>C | 108 | 3238 | 18.01 | 2.2e-05 | 1.516 |
| chr6:135025753 | rs9389206 | - | A>G | 2490 | 105181 | 17.95 | 2.273e-05 | 1.118 |
| chr4:6423001 | rs73206177 | PPP2R2C | T>C | 192 | 6383 | 17.88 | 2.348e-05 | 1.368 |
| chr3:31391217 | rs80098950 | - | T>C | 155 | 4983 | 17.79 | 2.469e-05 | 1.414 |
| chr16:67295020 | rs12447443 | SLC9A5 | C>T | 128 | 3994 | 17.7 | 2.591e-05 | 1.462 |
| chr23:119511311 | rs12839997 | ATP1B4 | A>G | 2018 | 98400 | 17.48 | 2.901e-05 | 1.142 |
| chr6:31494738 | rs2734573 | - | A>C | 2778 | 118343 | 17.31 | 3.169e-05 | 1.114 |
| chr3:76484183 | rs3849491 | ROBO2 | C>T | 2760 | 131928 | 17.25 | 3.273e-05 | 0.8978 |
| chr14:81360958 | rs2288347 | CEP128 | C>T | 2873 | 137154 | 17.23 | 3.311e-05 | 0.8981 |
| chr20:41454516 | rs78205585 | PTPRT | C>A | 756 | 29548 | 17.18 | 3.397e-05 | 1.177 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: J351 | Hypertrophy of tonsils | 3/20 |
| ICD: R065 | Mouth breathing | 10/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: C099 | Tonsil, unspecified | 0/20 |