Statistics
| Case | Control |
|---|---|
| 700 | 459494 |
Phenotype Definition
Abnormal accumulation of fluid leading to swelling of the pharynx. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr23:10053367 | rs6638990 | WWC3 | G>A | 462 | 349430 | 25.85 | 3.691e-07 | 0.7387 |
| chr1:223900819 | rs7366009 | CAPN2 | A>G | 96 | 37452 | 25.57 | 4.263e-07 | 1.695 |
| chr17:65131573 | rs10445332 | HELZ | C>T | 57 | 19478 | 23.68 | 1.137e-06 | 1.909 |
| chr11:21799762 | rs10833625 | - | A>G | 285 | 139977 | 23.36 | 1.34e-06 | 1.373 |
| chr4:29758662 | rs114062843 | - | G>T | 49 | 16050 | 23.33 | 1.364e-06 | 1.992 |
| chr11:21816616 | rs10833632 | - | G>A | 284 | 139699 | 23.17 | 1.48e-06 | 1.371 |
| chr4:29723320 | rs9999159 | - | T>C | 43 | 13878 | 21.46 | 3.609e-06 | 2.02 |
| chr10:56067437 | rs7921798 | PCDH15 | T>C | 377 | 196275 | 20.56 | 5.782e-06 | 1.308 |
| chr11:21876787 | rs1386732 | ANO5 | A>G | 162 | 74294 | 20.48 | 6.037e-06 | 1.454 |
| chr9:100338832 | rs28368170 | TMOD1 | C>T | 179 | 83320 | 20.21 | 6.936e-06 | 1.428 |
| chr10:56102910 | rs2795927 | PCDH15 | G>A | 387 | 202374 | 20.18 | 7.041e-06 | 1.302 |
| chr15:33966355 | rs4780148 | RYR3 | G>C | 219 | 106805 | 19.31 | 1.109e-05 | 1.377 |
| chr5:30788099 | rs34372332 | - | T>C | 97 | 40496 | 18.78 | 1.464e-05 | 1.571 |
| chr9:132481929 | rs116975319 | PRRX2 | G>T | 68 | 26176 | 18.63 | 1.584e-05 | 1.699 |
| chr11:79591327 | rs117059907 | - | C>T | 60 | 22306 | 18.62 | 1.596e-05 | 1.754 |
| chr1:201218256 | rs6427892 | - | A>C | 438 | 236533 | 18.4 | 1.792e-05 | 1.275 |
| chr14:106969513 | rs12587347 | - | C>T | 521 | 285178 | 18.38 | 1.808e-05 | 1.26 |
| chr12:125934833 | rs12161790 | TMEM132B | C>T | 41 | 13688 | 18.21 | 1.98e-05 | 1.943 |
| chr18:2238246 | rs670003 | - | G>A | 708 | 401879 | 18.1 | 2.092e-05 | 1.245 |
| chr6:161781225 | rs1801334 | PRKN | C>T | 27 | 37963 | 18.07 | 2.126e-05 | 0.4475 |
| chr1:14555808 | rs11809915 | KAZN | A>G | 50 | 15870 | 27.81 | 1.335e-07 | 2.103 |
| chr17:65131573 | rs10445332 | HELZ | C>T | 56 | 19120 | 25.16 | 5.267e-07 | 1.959 |
| chr23:10053367 | rs6638990 | WWC3 | G>A | 431 | 334920 | 25.11 | 5.413e-07 | 0.7331 |
| chr22:18895227 | rs418623 | DGCR6 | T>C | 440 | 344414 | 22.42 | 2.186e-06 | 0.7618 |
| chr11:98349688 | rs114268505 | - | C>T | 38 | 11824 | 22.3 | 2.328e-06 | 2.137 |
| chr11:21816616 | rs10833632 | - | G>A | 240 | 119239 | 21.29 | 3.951e-06 | 1.386 |
| chr1:14575992 | rs12403204 | KAZN | A>C | 44 | 14756 | 20.98 | 4.65e-06 | 1.992 |
| chr11:21799762 | rs10833625 | - | A>G | 240 | 119341 | 20.98 | 4.645e-06 | 1.382 |
| chr9:100338832 | rs28368170 | TMOD1 | C>T | 172 | 80992 | 20.93 | 4.771e-06 | 1.449 |
| chr11:21876787 | rs1386732 | ANO5 | A>G | 149 | 68699 | 20.91 | 4.805e-06 | 1.484 |
| chr10:125548345 | rs117082631 | CPXM2 | C>T | 56 | 20337 | 20.63 | 5.579e-06 | 1.842 |
| chr15:72607263 | rs7179350 | AC009690.3 | C>A | 24 | 6433 | 20.61 | 5.621e-06 | 2.473 |
| chr20:46857223 | rs12625133 | - | C>T | 334 | 174731 | 20.5 | 5.974e-06 | 1.328 |
| chr11:79591327 | rs117059907 | - | C>T | 59 | 21855 | 20.23 | 6.867e-06 | 1.805 |
| chr10:64869892 | rs10761710 | - | G>A | 190 | 165766 | 19.11 | 1.232e-05 | 0.7119 |
| chr22:45447178 | rs7510947 | - | G>A | 29 | 8701 | 18.89 | 1.383e-05 | 2.216 |
| chr10:56067437 | rs7921798 | PCDH15 | T>C | 349 | 186353 | 18.68 | 1.547e-05 | 1.305 |
| chr6:161781225 | rs1801334 | PRKN | C>T | 25 | 37366 | 18.57 | 1.639e-05 | 0.4297 |
| chr7:145193978 | rs12669573 | - | T>C | 132 | 122700 | 18.52 | 1.682e-05 | 0.6761 |
| chr7:87375209 | rs117860181 | RUNDC3B | G>A | 66 | 25958 | 18.36 | 1.829e-05 | 1.707 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:14555808 | rs11809915 | KAZN | A>G | 50 | 8609 | 28.09 | 1.161e-07 | 2.112 |
| chr23:10053367 | rs6638990 | WWC3 | G>A | 431 | 183307 | 24.46 | 7.587e-07 | 0.7359 |
| chr17:65131573 | rs10445332 | HELZ | C>T | 56 | 10568 | 23.99 | 9.707e-07 | 1.931 |
| chr22:18895227 | rs418623 | DGCR6 | T>C | 440 | 187752 | 22.52 | 2.082e-06 | 0.7613 |
| chr11:98349688 | rs114268505 | - | C>T | 38 | 6421 | 22.46 | 2.151e-06 | 2.145 |
| chr11:21816616 | rs10833632 | - | G>A | 240 | 64777 | 21.71 | 3.168e-06 | 1.39 |
| chr11:21799762 | rs10833625 | - | A>G | 240 | 64869 | 21.29 | 3.951e-06 | 1.386 |
| chr1:14575992 | rs12403204 | KAZN | A>C | 44 | 8004 | 21.21 | 4.126e-06 | 2.0 |
| chr10:125548345 | rs117082631 | CPXM2 | C>T | 56 | 10997 | 21.13 | 4.297e-06 | 1.856 |
| chr11:21876787 | rs1386732 | ANO5 | A>G | 149 | 37459 | 20.74 | 5.274e-06 | 1.482 |
| chr9:100338832 | rs28368170 | TMOD1 | C>T | 172 | 44246 | 20.56 | 5.767e-06 | 1.445 |
| chr15:72607263 | rs7179350 | AC009690.3 | C>A | 24 | 3521 | 20.33 | 6.511e-06 | 2.462 |
| chr20:46857223 | rs12625133 | - | C>T | 334 | 95309 | 20.29 | 6.654e-06 | 1.327 |
| chr11:79591327 | rs117059907 | - | C>T | 59 | 11942 | 19.99 | 7.799e-06 | 1.8 |
| chr10:64869892 | rs10761710 | - | G>A | 190 | 90627 | 19.58 | 9.626e-06 | 0.7089 |
| chr22:45447178 | rs7510947 | - | G>A | 29 | 4699 | 19.28 | 1.126e-05 | 2.236 |
| chr21:24461563 | rs74660554 | - | T>C | 76 | 16688 | 18.97 | 1.325e-05 | 1.664 |
| chr14:105150467 | rs75458767 | - | G>A | 76 | 16865 | 18.4 | 1.792e-05 | 1.652 |
| chr6:161781225 | rs1801334 | PRKN | C>T | 25 | 20276 | 18.35 | 1.84e-05 | 0.4317 |
| chr7:145193978 | rs12669573 | - | T>C | 132 | 66761 | 18.34 | 1.845e-05 | 0.6773 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: R070 | Pain in throat | 6/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: T885 | Other complications of anaesthesia | 0/20 |