Statistics
| Case | Control |
|---|---|
| 417 | 459777 |
Phenotype Definition
An abnormality of the cochlea. [HPO:probinson]
Phenotype Comment
The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr7:78478887 | rs117668655 | MAGI2 | G>C | 49 | 27284 | 23.56 | 1.211e-06 | 2.013 |
| chr16:83079884 | rs117948247 | CDH13 | C>G | 33 | 16012 | 23.0 | 1.623e-06 | 2.288 |
| chr5:40585548 | rs17237359 | TTC33 | G>A | 39 | 20402 | 22.3 | 2.329e-06 | 2.129 |
| chr19:38527052 | rs118088049 | SIPA1L3 | C>A | 33 | 16336 | 22.09 | 2.607e-06 | 2.252 |
| chr10:129079151 | rs117398912 | DOCK1 | A>G | 23 | 9886 | 21.48 | 3.582e-06 | 2.572 |
| chr11:33895658 | rs75576903 | LMO2 | C>T | 48 | 27298 | 21.4 | 3.722e-06 | 1.962 |
| chr7:26634029 | rs17359141 | - | T>C | 112 | 80565 | 21.37 | 3.796e-06 | 1.589 |
| chr10:64064556 | rs117017251 | - | G>T | 33 | 16335 | 21.33 | 3.863e-06 | 2.223 |
| chr3:127493864 | rs567384 | MGLL | T>C | 168 | 131741 | 20.98 | 4.648e-06 | 1.477 |
| chr5:8981246 | rs2962714 | - | G>C | 36 | 18685 | 20.96 | 4.697e-06 | 2.14 |
| chr5:56327623 | rs79105210 | - | C>G | 56 | 33984 | 20.64 | 5.537e-06 | 1.855 |
| chr2:192463566 | rs13013705 | - | G>A | 104 | 74121 | 20.53 | 5.883e-06 | 1.6 |
| chr13:99593386 | rs73564813 | DOCK9 | C>T | 36 | 18928 | 20.25 | 6.781e-06 | 2.114 |
| chr5:154998462 | rs17118100 | - | T>C | 25 | 11536 | 19.95 | 7.965e-06 | 2.407 |
| chr19:50753731 | rs73061141 | MYH14 | G>T | 22 | 58292 | 19.82 | 8.503e-06 | 0.3955 |
| chr18:31999115 | rs7229598 | - | C>G | 62 | 39216 | 19.5 | 1.006e-05 | 1.775 |
| chr16:818452 | rs150425699 | MSLN | G>A | 24 | 11020 | 19.46 | 1.027e-05 | 2.422 |
| chr20:61597214 | rs59892036 | SLC17A9 | T>C | 115 | 84259 | 19.44 | 1.038e-05 | 1.549 |
| chr16:5645842 | rs9921960 | RBFOX1 | G>A | 144 | 110895 | 19.41 | 1.056e-05 | 1.489 |
| chr18:63075670 | rs79979914 | - | T>C | 31 | 15751 | 19.22 | 1.164e-05 | 2.186 |
| chr2:206794488 | rs7578536 | - | A>G | 18 | 5863 | 30.31 | 3.69e-08 | 3.435 |
| chr2:206758399 | rs6740478 | - | C>T | 19 | 6402 | 30.29 | 3.73e-08 | 3.337 |
| chr11:33895658 | rs75576903 | LMO2 | C>T | 48 | 26251 | 25.11 | 5.419e-07 | 2.074 |
| chr19:38527052 | rs118088049 | SIPA1L3 | C>A | 33 | 15861 | 24.66 | 6.824e-07 | 2.355 |
| chr10:64064556 | rs117017251 | - | G>T | 33 | 15770 | 23.99 | 9.668e-07 | 2.33 |
| chr2:192463566 | rs13013705 | - | G>A | 101 | 69793 | 23.87 | 1.029e-06 | 1.673 |
| chr12:54696320 | rs7296759 | COPZ1 | C>T | 23 | 9629 | 23.43 | 1.292e-06 | 2.677 |
| chr10:129079151 | rs117398912 | DOCK1 | A>G | 23 | 9706 | 23.05 | 1.581e-06 | 2.656 |
| chr16:83079884 | rs117948247 | CDH13 | C>G | 32 | 15741 | 22.25 | 2.399e-06 | 2.287 |
| chr3:124905146 | rs6784701 | SLC12A8 | C>T | 11 | 3280 | 21.73 | 3.144e-06 | 3.741 |
| chr23:126023686 | rs5976441 | - | G>A | 220 | 312861 | 21.51 | 3.519e-06 | 0.68 |
| chr18:63075670 | rs79979914 | - | T>C | 31 | 15367 | 21.14 | 4.28e-06 | 2.269 |
| chr5:56327623 | rs79105210 | - | C>G | 54 | 32793 | 20.78 | 5.159e-06 | 1.88 |
| chr7:26634029 | rs17359141 | - | T>C | 107 | 77864 | 20.58 | 5.709e-06 | 1.594 |
| chr5:81572150 | rs112359833 | ATG10 | G>T | 34 | 17691 | 20.36 | 6.431e-06 | 2.163 |
| chr7:78478887 | rs117668655 | MAGI2 | G>C | 46 | 26966 | 19.58 | 9.628e-06 | 1.934 |
| chr3:22624321 | rs114330263 | - | A>G | 23 | 10495 | 19.57 | 9.714e-06 | 2.474 |
| chr8:24495350 | rs75984572 | - | A>G | 28 | 13901 | 19.55 | 9.779e-06 | 2.287 |
| chr19:50753731 | rs73061141 | MYH14 | G>T | 20 | 55415 | 19.45 | 1.033e-05 | 0.3825 |
| chr3:127493864 | rs567384 | MGLL | T>C | 154 | 122090 | 19.36 | 1.08e-05 | 1.478 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr2:206758399 | rs6740478 | - | C>T | 19 | 154 | 25.43 | 4.589e-07 | 3.228 |
| chr2:192463566 | rs13013705 | - | G>A | 101 | 1600 | 24.64 | 6.923e-07 | 1.712 |
| chr19:38527052 | rs118088049 | SIPA1L3 | C>A | 33 | 358 | 24.54 | 7.292e-07 | 2.434 |
| chr2:206794488 | rs7578536 | - | A>G | 18 | 147 | 23.6 | 1.185e-06 | 3.19 |
| chr5:40585548 | rs17237359 | TTC33 | G>A | 35 | 407 | 21.74 | 3.126e-06 | 2.261 |
| chr16:26796546 | rs211499 | - | A>G | 51 | 688 | 21.14 | 4.263e-06 | 1.965 |
| chr12:54696320 | rs7296759 | COPZ1 | C>T | 23 | 226 | 21.0 | 4.581e-06 | 2.658 |
| chr5:56327623 | rs79105210 | - | C>G | 54 | 754 | 20.35 | 6.447e-06 | 1.907 |
| chr8:18464231 | rs9644611 | PSD3 | A>G | 20 | 187 | 20.21 | 6.935e-06 | 2.787 |
| chr19:50753731 | rs73061141 | MYH14 | G>T | 20 | 1318 | 20.07 | 7.467e-06 | 0.3744 |
| chr10:129079151 | rs117398912 | DOCK1 | A>G | 23 | 231 | 20.02 | 7.673e-06 | 2.599 |
| chr10:64064556 | rs117017251 | - | G>T | 33 | 383 | 19.79 | 8.633e-06 | 2.23 |
| chr16:83079884 | rs117948247 | CDH13 | C>G | 32 | 373 | 19.67 | 9.2e-06 | 2.249 |
| chr11:33895658 | rs75576903 | LMO2 | C>T | 48 | 651 | 19.38 | 1.072e-05 | 1.945 |
| chr3:22624321 | rs114330263 | - | A>G | 23 | 236 | 19.37 | 1.08e-05 | 2.561 |
| chr23:126023686 | rs5976441 | - | G>A | 220 | 7240 | 18.86 | 1.409e-05 | 0.6923 |
| chr7:26634029 | rs17359141 | - | T>C | 107 | 1827 | 18.84 | 1.422e-05 | 1.581 |
| chr18:63075670 | rs79979914 | - | T>C | 31 | 363 | 18.83 | 1.428e-05 | 2.237 |
| chr6:56434712 | rs138967674 | DST | G>T | 25 | 269 | 18.68 | 1.543e-05 | 2.43 |
| chr7:78478887 | rs117668655 | MAGI2 | G>C | 46 | 631 | 18.05 | 2.154e-05 | 1.926 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: G960 | Cerebrospinal fluid leak | 1/20 |
| ID | Name | Top Correlation |
|---|