Statistics
| Case | Control |
|---|---|
| 4057 | 456137 |
Phenotype Definition
An abnormality of the morphology or structure of the middle ear. [DDD:mbitner-glidicz]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr14:36929876 | rs17104540 | - | A>G | 2345 | 239454 | 27.91 | 1.268e-07 | 1.137 |
| chr3:119378337 | rs3749417 | POPDC2 | T>C | 4308 | 456881 | 26.24 | 3.01e-07 | 1.117 |
| chr16:77643421 | rs280872 | - | T>C | 2097 | 213613 | 25.32 | 4.846e-07 | 1.135 |
| chr3:119300655 | rs1485331 | ADPRH | G>A | 651 | 60451 | 25.03 | 5.637e-07 | 1.227 |
| chr2:230524218 | rs12469914 | DNER | A>G | 120 | 21098 | 24.99 | 5.757e-07 | 0.6332 |
| chr3:119301139 | rs20568 | ADPRH | C>T | 652 | 60607 | 24.55 | 7.237e-07 | 1.225 |
| chr3:119379186 | rs4688023 | POPDC2 | C>T | 4091 | 433449 | 24.48 | 7.518e-07 | 1.113 |
| chr3:119378872 | rs1880040 | POPDC2 | G>A | 4091 | 434204 | 24.1 | 9.127e-07 | 1.112 |
| chr2:230526908 | rs7587835 | DNER | T>C | 143 | 23956 | 23.64 | 1.161e-06 | 0.6647 |
| chr10:116133856 | rs494975 | AFAP1L2 | C>T | 80 | 15221 | 23.05 | 1.579e-06 | 0.5861 |
| chr1:225052055 | rs61852090 | - | C>A | 257 | 21494 | 22.77 | 1.826e-06 | 1.354 |
| chr1:41269239 | rs6675976 | KCNQ4 | A>G | 3109 | 373222 | 22.03 | 2.685e-06 | 0.8989 |
| chr7:40230346 | rs6462963 | SUGCT | T>C | 4162 | 442850 | 21.87 | 2.917e-06 | 1.107 |
| chr18:603733 | rs116420573 | CLUL1 | C>A | 335 | 29282 | 21.47 | 3.59e-06 | 1.296 |
| chr11:102435613 | rs78768155 | - | C>T | 207 | 16895 | 21.31 | 3.899e-06 | 1.385 |
| chr10:65947548 | rs12258356 | - | G>A | 142 | 23294 | 21.15 | 4.252e-06 | 0.6785 |
| chr1:225115209 | rs61852097 | DNAH14 | G>A | 235 | 19560 | 21.06 | 4.445e-06 | 1.356 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 103 | 18042 | 21.0 | 4.59e-06 | 0.6365 |
| chr7:51849478 | rs13225022 | - | A>G | 3194 | 335308 | 20.91 | 4.82e-06 | 1.108 |
| chr1:173579034 | rs12065033 | AL139142.2 | C>T | 83 | 15258 | 20.78 | 5.157e-06 | 0.6072 |
| chr14:36929876 | rs17104540 | - | A>G | 2225 | 227901 | 25.67 | 4.058e-07 | 1.135 |
| chr16:77643421 | rs280872 | - | T>C | 2003 | 204566 | 23.69 | 1.129e-06 | 1.134 |
| chr7:114015707 | rs12705960 | FOXP2 | A>C | 4151 | 442981 | 22.1 | 2.59e-06 | 1.111 |
| chr1:225115209 | rs61852097 | DNAH14 | G>A | 231 | 19086 | 21.99 | 2.745e-06 | 1.368 |
| chr7:40230346 | rs6462963 | SUGCT | T>C | 3870 | 411283 | 21.75 | 3.108e-06 | 1.11 |
| chr7:40096299 | rs12533272 | CDK13 | C>T | 3610 | 382543 | 21.53 | 3.488e-06 | 1.11 |
| chr5:140308681 | rs113293568 | PCDHA1 | C>T | 340 | 30002 | 20.58 | 5.732e-06 | 1.287 |
| chr11:102435613 | rs78768155 | - | C>T | 202 | 16543 | 20.51 | 5.919e-06 | 1.382 |
| chr1:225052055 | rs61852090 | - | C>A | 245 | 20706 | 20.39 | 6.303e-06 | 1.341 |
| chr20:6701426 | rs4813803 | - | C>T | 1793 | 183174 | 20.39 | 6.314e-06 | 1.129 |
| chr3:119378337 | rs3749417 | POPDC2 | T>C | 4048 | 432166 | 20.38 | 6.339e-06 | 1.106 |
| chr6:31204694 | rs3869115 | - | C>G | 170 | 26890 | 20.3 | 6.622e-06 | 0.7057 |
| chr8:4489552 | rs10503267 | CSMD1 | T>C | 1082 | 106946 | 20.24 | 6.827e-06 | 1.159 |
| chr7:81434933 | rs1025129 | - | T>C | 1660 | 169067 | 19.97 | 7.86e-06 | 1.131 |
| chr15:39275222 | rs117386953 | - | T>A | 175 | 14071 | 19.88 | 8.23e-06 | 1.407 |
| chr16:89201395 | rs34007589 | ACSF3 | C>T | 933 | 120249 | 19.82 | 8.496e-06 | 0.8561 |
| chr19:15586077 | rs4808309 | PGLYRP2 | T>C | 2469 | 298644 | 19.81 | 8.535e-06 | 0.8973 |
| chr19:56863358 | rs8109555 | ZSCAN5A | A>G | 1564 | 158832 | 19.78 | 8.691e-06 | 1.134 |
| chr3:119379186 | rs4688023 | POPDC2 | C>T | 3849 | 410247 | 19.58 | 9.641e-06 | 1.104 |
| chr18:49895680 | rs75072046 | DCC | G>A | 211 | 17572 | 19.31 | 1.111e-05 | 1.36 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr14:36929876 | rs17104540 | - | A>G | 2225 | 6036 | 23.68 | 1.137e-06 | 1.151 |
| chr7:40230346 | rs6462963 | SUGCT | T>C | 3870 | 10887 | 23.47 | 1.271e-06 | 1.133 |
| chr7:40096299 | rs12533272 | CDK13 | C>T | 3610 | 10113 | 23.44 | 1.286e-06 | 1.133 |
| chr6:31204694 | rs3869115 | - | C>G | 170 | 765 | 23.26 | 1.412e-06 | 0.663 |
| chr7:69860631 | rs17565867 | AUTS2 | A>G | 45 | 279 | 21.44 | 3.647e-06 | 0.4818 |
| chr3:1842158 | rs9873452 | - | G>C | 318 | 705 | 21.25 | 4.032e-06 | 1.372 |
| chr13:97432864 | rs9584410 | HS6ST3 | A>G | 2573 | 8423 | 20.76 | 5.217e-06 | 0.8826 |
| chr7:28589296 | rs73301141 | CREB5 | T>G | 274 | 595 | 20.67 | 5.443e-06 | 1.399 |
| chr4:187404608 | rs10866292 | AC018709.1 | T>G | 1441 | 4892 | 20.05 | 7.525e-06 | 0.8621 |
| chr17:68736046 | rs9891034 | - | G>A | 879 | 2238 | 19.99 | 7.785e-06 | 1.207 |
| chr3:119378872 | rs1880040 | POPDC2 | G>A | 3849 | 10914 | 19.51 | 9.993e-06 | 1.12 |
| chr3:119379186 | rs4688023 | POPDC2 | C>T | 3849 | 10892 | 19.36 | 1.082e-05 | 1.12 |
| chr1:225115209 | rs61852097 | DNAH14 | G>A | 231 | 492 | 19.32 | 1.108e-05 | 1.424 |
| chr11:102435613 | rs78768155 | - | C>T | 202 | 420 | 19.27 | 1.133e-05 | 1.459 |
| chr3:168986452 | rs112905364 | MECOM | G>A | 395 | 919 | 19.14 | 1.212e-05 | 1.308 |
| chr4:160350425 | rs2699032 | - | A>G | 657 | 1630 | 19.06 | 1.268e-05 | 1.233 |
| chr18:67352211 | rs56362100 | DOK6 | G>T | 116 | 213 | 19.02 | 1.294e-05 | 1.651 |
| chr3:130547086 | rs4487219 | - | C>A | 1457 | 4929 | 18.82 | 1.433e-05 | 0.8664 |
| chr3:119378337 | rs3749417 | POPDC2 | T>C | 4048 | 11509 | 18.78 | 1.471e-05 | 1.118 |
| chr1:4934852 | rs11810903 | - | C>T | 1328 | 4515 | 18.57 | 1.636e-05 | 0.8629 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: H663 | Other chronic suppurative otitis media | 1/20 |
| ICD: H729 | Perforation of tympanic membrane, unspecified | 1/20 |