Morphological abnormality of the semicircular canal
0011380
Normal Case/Contol ⓘ
Sibling Case/Control ⓘ
Statistics
| Case | Control |
|---|---|
| 1362 | 458832 |
Phenotype Definition
An abnormality of the morphology of the semicircular canal. [DDD:dfitzpatrick]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:25941885 | rs35436595 | - | G>A | 66 | 12229 | 24.42 | 7.759e-07 | 1.836 |
| chr1:237284996 | rs115303770 | RYR2 | C>T | 56 | 9952 | 23.65 | 1.154e-06 | 1.909 |
| chr2:234991454 | rs77743342 | - | A>G | 143 | 32323 | 23.61 | 1.178e-06 | 1.514 |
| chr22:35370103 | rs4821334 | - | A>G | 62 | 11508 | 22.53 | 2.067e-06 | 1.826 |
| chr9:73928106 | rs79216213 | TRPM3 | G>A | 96 | 20116 | 22.1 | 2.586e-06 | 1.623 |
| chr23:32097831 | rs2141753 | DMD | A>G | 625 | 175379 | 21.6 | 3.356e-06 | 1.244 |
| chr2:234966035 | rs28903995 | SPP2 | T>C | 142 | 32709 | 21.19 | 4.159e-06 | 1.484 |
| chr13:67017282 | rs8001417 | PCDH9 | T>C | 854 | 325346 | 20.27 | 6.738e-06 | 0.8308 |
| chr5:72448744 | rs536229 | - | G>A | 154 | 36530 | 19.5 | 1.006e-05 | 1.44 |
| chr4:30197744 | rs2613179 | - | T>C | 235 | 103562 | 19.39 | 1.066e-05 | 0.7416 |
| chr2:36854548 | rs7600979 | FEZ2 | C>T | 1287 | 393793 | 19.33 | 1.102e-05 | 1.179 |
| chr8:61884210 | rs73264731 | - | G>A | 60 | 11543 | 19.31 | 1.109e-05 | 1.763 |
| chr12:113565933 | rs34598602 | RASAL1 | G>A | 264 | 68402 | 19.26 | 1.138e-05 | 1.327 |
| chr6:27381733 | rs115862154 | - | G>A | 103 | 22660 | 19.16 | 1.203e-05 | 1.548 |
| chr11:48059568 | rs35147384 | PTPRJ | C>T | 151 | 35847 | 19.04 | 1.282e-05 | 1.438 |
| chr10:83016532 | rs3913910 | - | A>G | 181 | 44485 | 18.4 | 1.787e-05 | 1.389 |
| chr15:60648931 | rs116841473 | ANXA2 | C>T | 109 | 24422 | 18.32 | 1.864e-05 | 1.516 |
| chr18:55882334 | rs693528 | NEDD4L | G>A | 36 | 24096 | 18.29 | 1.902e-05 | 0.495 |
| chr14:82886554 | rs11846669 | - | C>T | 89 | 19240 | 17.8 | 2.455e-05 | 1.571 |
| chr6:147992273 | rs79312166 | SAMD5 | G>A | 214 | 54407 | 17.79 | 2.467e-05 | 1.349 |
| chr23:32097831 | rs2141753 | DMD | A>G | 571 | 158392 | 23.75 | 1.099e-06 | 1.269 |
| chr1:237284996 | rs115303770 | RYR2 | C>T | 55 | 9822 | 23.09 | 1.544e-06 | 1.906 |
| chr2:234966035 | rs28903995 | SPP2 | T>C | 129 | 28850 | 22.68 | 1.91e-06 | 1.533 |
| chr2:234991454 | rs77743342 | - | A>G | 130 | 29178 | 22.53 | 2.066e-06 | 1.529 |
| chr6:147992273 | rs79312166 | SAMD5 | G>A | 204 | 49932 | 22.29 | 2.349e-06 | 1.409 |
| chr11:25941885 | rs35436595 | - | G>A | 63 | 11942 | 21.75 | 3.1e-06 | 1.8 |
| chr12:113565933 | rs34598602 | RASAL1 | G>A | 261 | 66887 | 21.23 | 4.066e-06 | 1.349 |
| chr5:72448744 | rs536229 | - | G>A | 151 | 35415 | 20.74 | 5.253e-06 | 1.462 |
| chr6:47538130 | rs12200492 | CD2AP | A>G | 1212 | 371395 | 20.07 | 7.461e-06 | 1.19 |
| chr7:95113420 | rs3757704 | ASB4 | G>T | 160 | 38341 | 19.63 | 9.379e-06 | 1.433 |
| chr15:65332472 | rs66800537 | - | A>G | 1391 | 430089 | 19.48 | 1.018e-05 | 1.185 |
| chr6:27381733 | rs115862154 | - | G>A | 100 | 21859 | 19.44 | 1.036e-05 | 1.563 |
| chr7:114015707 | rs12705960 | FOXP2 | A>C | 1436 | 445696 | 19.35 | 1.091e-05 | 1.184 |
| chr8:58660438 | rs34677260 | - | C>T | 80 | 16642 | 19.31 | 1.11e-05 | 1.64 |
| chr15:60648931 | rs116841473 | ANXA2 | C>T | 108 | 24046 | 18.97 | 1.33e-05 | 1.53 |
| chr18:55882334 | rs693528 | NEDD4L | G>A | 34 | 23499 | 18.84 | 1.423e-05 | 0.4804 |
| chr4:30197744 | rs2613179 | - | T>C | 202 | 90757 | 18.71 | 1.525e-05 | 0.7295 |
| chr22:35371444 | rs5755470 | - | A>G | 50 | 9263 | 18.52 | 1.683e-05 | 1.834 |
| chr13:67017282 | rs8001417 | PCDH9 | T>C | 798 | 304222 | 18.5 | 1.695e-05 | 0.8327 |
| chr3:8527882 | rs7632954 | - | T>C | 1007 | 377528 | 18.49 | 1.708e-05 | 0.8413 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr10:12923155 | rs80088056 | - | A>G | 26 | 15 | 29.74 | 4.944e-08 | 0.1976 |
| chr6:135955739 | rs117409093 | - | T>G | 49 | 20 | 25.27 | 4.985e-07 | 0.2775 |
| chr6:87142380 | rs62443711 | - | G>A | 21 | 12 | 23.4 | 1.318e-06 | 0.2014 |
| chr18:76557336 | rs67559316 | - | C>G | 426 | 85 | 23.13 | 1.512e-06 | 0.5253 |
| chr13:105614512 | rs76874819 | - | G>T | 130 | 36 | 22.81 | 1.791e-06 | 0.4004 |
| chr13:59353517 | rs75073221 | - | C>G | 26 | 13 | 22.33 | 2.294e-06 | 0.2247 |
| chr16:48902426 | rs117171637 | - | C>T | 33 | 15 | 22.02 | 2.694e-06 | 0.2516 |
| chr5:179586913 | rs17682426 | RASGEF1C | C>T | 122 | 34 | 21.67 | 3.236e-06 | 0.4001 |
| chr13:59547718 | rs17684829 | - | T>C | 26 | 13 | 21.62 | 3.323e-06 | 0.2296 |
| chr4:90579174 | rs79165611 | - | G>A | 30 | 14 | 21.52 | 3.5e-06 | 0.2439 |
| chr16:14093584 | rs74009291 | - | T>C | 68 | 23 | 21.39 | 3.738e-06 | 0.334 |
| chr19:6935033 | rs11666741 | ADGRE1 | C>A | 46 | 18 | 21.32 | 3.888e-06 | 0.2905 |
| chr8:81348083 | rs62515066 | - | A>G | 46 | 18 | 21.28 | 3.969e-06 | 0.2908 |
| chr2:217253962 | rs116109998 | - | C>T | 42 | 17 | 21.17 | 4.214e-06 | 0.2815 |
| chr4:181148799 | rs116681793 | - | G>A | 38 | 16 | 21.11 | 4.337e-06 | 0.2711 |
| chr1:98579686 | rs116392340 | - | G>A | 27 | 13 | 20.59 | 5.698e-06 | 0.2385 |
| chr17:52511849 | rs117744232 | - | C>T | 27 | 13 | 20.59 | 5.698e-06 | 0.2385 |
| chr6:136099601 | rs75360360 | - | T>G | 47 | 18 | 20.58 | 5.724e-06 | 0.2972 |
| chr21:23347592 | rs12019199 | - | G>A | 369 | 74 | 20.55 | 5.812e-06 | 0.5284 |
| chr9:93534941 | rs11794611 | - | A>G | 273 | 59 | 20.51 | 5.941e-06 | 0.4974 |
| chr10:12923155 | rs80088056 | - | A>G | 25 | 15 | 28.84 | 7.881e-08 | 0.1998 |
| chr6:135955739 | rs117409093 | - | T>G | 47 | 20 | 24.59 | 7.1e-07 | 0.2798 |
| chr11:5089017 | rs2445311 | - | T>C | 321 | 72 | 24.37 | 7.942e-07 | 0.4931 |
| chr6:87142380 | rs62443711 | - | G>A | 20 | 12 | 22.93 | 1.68e-06 | 0.2017 |
| chr4:181148799 | rs116681793 | - | G>A | 34 | 16 | 22.69 | 1.907e-06 | 0.2547 |
| chr1:98579686 | rs116392340 | - | G>A | 24 | 13 | 22.07 | 2.632e-06 | 0.2227 |
| chr16:48902426 | rs117171637 | - | C>T | 31 | 15 | 22.05 | 2.663e-06 | 0.2484 |
| chr13:59353517 | rs75073221 | - | C>G | 25 | 13 | 21.64 | 3.287e-06 | 0.2272 |
| chr13:59547718 | rs17684829 | - | T>C | 25 | 13 | 20.96 | 4.68e-06 | 0.2321 |
| chr19:30086896 | rs77076952 | - | G>A | 29 | 14 | 20.57 | 5.759e-06 | 0.249 |
| chr4:110980682 | rs77808755 | ELOVL6 | G>A | 33 | 15 | 20.47 | 6.054e-06 | 0.2626 |
| chr13:89788636 | rs17712596 | - | C>T | 75 | 25 | 20.39 | 6.317e-06 | 0.3555 |
| chr16:14093584 | rs74009291 | - | T>C | 62 | 22 | 20.1 | 7.346e-06 | 0.3353 |
| chr6:136099601 | rs75360360 | - | T>G | 45 | 18 | 20.08 | 7.427e-06 | 0.2991 |
| chr9:93534941 | rs11794611 | - | A>G | 261 | 59 | 19.97 | 7.858e-06 | 0.5001 |
| chr5:179586913 | rs17682426 | RASGEF1C | C>T | 120 | 34 | 19.9 | 8.155e-06 | 0.4139 |
| chr16:49820045 | rs71382768 | ZNF423 | G>A | 63 | 22 | 19.74 | 8.863e-06 | 0.3389 |
| chr19:55426595 | rs9789251 | NCR1 | C>G | 298 | 65 | 19.64 | 9.325e-06 | 0.5168 |
| chr23:79454802 | rs393298 | - | T>C | 743 | 94 | 19.57 | 9.718e-06 | 0.5085 |
| chr19:6935033 | rs11666741 | ADGRE1 | C>A | 46 | 18 | 19.41 | 1.057e-05 | 0.3056 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: H811 | Benign paroxysmal vertigo | 1/20 |
| ICD: H830 | Labyrinthitis | 1/20 |
| ID | Name | Top Correlation |
|---|