Statistics
| Case | Control |
|---|---|
| 2475 | 457719 |
Phenotype Definition
Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. [HPO:curators]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr16:77643421 | rs280872 | - | T>C | 1360 | 214350 | 42.76 | 6.187e-11 | 1.229 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 42 | 18103 | 32.72 | 1.064e-08 | 0.423 |
| chr2:230524218 | rs12469914 | DNER | A>G | 56 | 21162 | 30.71 | 3.001e-08 | 0.4823 |
| chr6:37328215 | Affx-28571852 | RNF8 | C>CT | 49 | 19267 | 30.04 | 4.232e-08 | 0.4637 |
| chr16:29790864 | rs235636 | ZG16 | A>G | 25 | 12796 | 28.71 | 8.428e-08 | 0.3573 |
| chr2:230526908 | rs7587835 | DNER | T>C | 70 | 24029 | 28.58 | 9.013e-08 | 0.5307 |
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 51 | 19326 | 28.08 | 1.166e-07 | 0.4818 |
| chr3:25315167 | rs118046543 | RARB | A>G | 114 | 12936 | 27.57 | 1.513e-07 | 1.639 |
| chr1:173579034 | rs12065033 | AL139142.2 | C>T | 36 | 15305 | 26.97 | 2.064e-07 | 0.4299 |
| chr18:19763011 | rs3764962 | GATA6 | A>G | 70 | 23565 | 26.84 | 2.209e-07 | 0.5408 |
| chr13:31074486 | rs7326905 | HMGB1 | G>A | 19 | 10590 | 25.99 | 3.43e-07 | 0.3282 |
| chr8:145754187 | rs115228909 | C8orf82 | C>G | 33 | 14304 | 25.95 | 3.509e-07 | 0.4217 |
| chr7:40230346 | rs6462963 | SUGCT | T>C | 2592 | 444420 | 25.55 | 4.31e-07 | 1.15 |
| chr12:123645323 | rs1260317 | MPHOSPH9 | T>C | 58 | 20387 | 25.49 | 4.44e-07 | 0.519 |
| chr6:136480972 | rs9483910 | PDE7B | C>T | 62 | 21308 | 25.34 | 4.814e-07 | 0.5308 |
| chr16:77669306 | rs381534 | - | C>T | 1540 | 254090 | 24.78 | 6.44e-07 | 1.163 |
| chr14:21022833 | rs1620265 | - | G>T | 78 | 24866 | 24.55 | 7.244e-07 | 0.5719 |
| chr5:83128858 | rs7709612 | - | A>G | 22 | 11072 | 24.33 | 8.099e-07 | 0.3637 |
| chr10:65947548 | rs12258356 | - | G>A | 72 | 23364 | 24.2 | 8.689e-07 | 0.5618 |
| chr11:67218909 | rs949252 | GPR152 | A>G | 21 | 10755 | 24.08 | 9.265e-07 | 0.3577 |
| chr16:77643421 | rs280872 | - | T>C | 1287 | 205282 | 36.21 | 1.774e-09 | 1.216 |
| chr3:25315167 | rs118046543 | RARB | A>G | 87 | 9396 | 25.83 | 3.722e-07 | 1.726 |
| chr7:40230346 | rs6462963 | SUGCT | T>C | 2407 | 412746 | 24.98 | 5.799e-07 | 1.153 |
| chr3:171206292 | rs13353477 | - | C>T | 157 | 19688 | 24.4 | 7.844e-07 | 1.491 |
| chr15:39275222 | rs117386953 | - | T>A | 118 | 14128 | 22.76 | 1.839e-06 | 1.557 |
| chr3:93883598 | rs62266122 | - | T>C | 232 | 31635 | 22.34 | 2.29e-06 | 1.374 |
| chr2:175974284 | rs76932609 | ATF2 | A>G | 163 | 21021 | 21.84 | 2.957e-06 | 1.45 |
| chr7:131730348 | rs77008163 | - | C>T | 485 | 73432 | 20.95 | 4.725e-06 | 1.245 |
| chr16:77617417 | rs627237 | - | T>C | 2299 | 454615 | 20.44 | 6.139e-06 | 0.8787 |
| chr2:31496483 | rs77684026 | - | T>A | 195 | 26240 | 20.35 | 6.441e-06 | 1.39 |
| chr7:19052733 | rs57301765 | - | G>A | 875 | 140534 | 20.18 | 7.047e-06 | 1.183 |
| chr1:216608268 | rs11582099 | - | G>A | 719 | 154542 | 19.42 | 1.049e-05 | 0.837 |
| chr5:54053955 | rs116526835 | - | T>G | 129 | 16290 | 19.29 | 1.125e-05 | 1.478 |
| chr7:40096299 | rs12533272 | CDK13 | C>T | 2230 | 383923 | 19.28 | 1.131e-05 | 1.134 |
| chr2:220417364 | rs181520135 | OBSL1 | G>T | 95 | 11283 | 18.91 | 1.37e-05 | 1.566 |
| chr16:77669306 | rs381534 | - | C>T | 1450 | 242722 | 18.67 | 1.553e-05 | 1.145 |
| chr16:77675995 | rs11649438 | - | G>T | 823 | 132874 | 18.06 | 2.14e-05 | 1.177 |
| chr17:68736046 | rs9891034 | - | G>A | 558 | 87136 | 18.02 | 2.19e-05 | 1.211 |
| chr20:12669310 | rs1333387 | - | G>T | 222 | 31037 | 17.92 | 2.302e-05 | 1.337 |
| chr1:19975330 | rs3790744 | NBL1 | G>A | 820 | 132265 | 17.67 | 2.63e-05 | 1.175 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr17:66671324 | rs17741957 | - | T>C | 1561 | 360 | 26.25 | 3.006e-07 | 0.6827 |
| chr2:53656304 | rs6732693 | - | T>C | 152 | 58 | 25.78 | 3.836e-07 | 0.4549 |
| chr13:111093708 | rs77304337 | COL4A2 | G>A | 319 | 100 | 25.78 | 3.832e-07 | 0.5456 |
| chr2:117951881 | rs79435330 | - | A>C | 37 | 23 | 24.71 | 6.667e-07 | 0.2859 |
| chr11:66328741 | rs2229456 | ACTN3 | A>C | 837 | 214 | 24.71 | 6.657e-07 | 0.6501 |
| chr11:66326581 | rs2275998 | ACTN3 | T>C | 846 | 215 | 24.5 | 7.418e-07 | 0.652 |
| chr2:11866376 | rs6755975 | LPIN1 | T>C | 955 | 237 | 23.92 | 1.006e-06 | 0.6647 |
| chr2:118120430 | rs79494686 | - | A>G | 39 | 23 | 22.96 | 1.651e-06 | 0.3009 |
| chr11:66329639 | rs77239910 | ACTN3 | G>A | 793 | 202 | 22.91 | 1.702e-06 | 0.6551 |
| chr11:66055685 | rs11544832 | YIF1A | G>A | 221 | 75 | 22.53 | 2.069e-06 | 0.5222 |
| chr12:12148314 | rs117167814 | - | A>G | 64 | 31 | 22.37 | 2.245e-06 | 0.3648 |
| chr11:65618053 | rs117613663 | CFL1 | C>T | 247 | 80 | 22.34 | 2.286e-06 | 0.5353 |
| chr11:65302893 | rs947791 | SCYL1 | G>A | 1072 | 132 | 22.08 | 2.611e-06 | 1.597 |
| chr11:65458994 | rs4636677 | - | G>T | 307 | 94 | 21.94 | 2.808e-06 | 0.5633 |
| chr9:116907553 | rs12352644 | - | A>C | 796 | 201 | 21.57 | 3.403e-06 | 0.6629 |
| chr19:7296452 | rs11880337 | - | T>C | 665 | 173 | 21.49 | 3.559e-06 | 0.6474 |
| chr11:66188761 | rs77600363 | NPAS4 | G>T | 1080 | 258 | 20.89 | 4.856e-06 | 0.6901 |
| chr17:66665566 | rs35961643 | - | G>A | 1756 | 388 | 20.55 | 5.817e-06 | 0.7164 |
| chr13:23300707 | rs9506908 | - | C>T | 922 | 111 | 20.45 | 6.122e-06 | 1.622 |
| chr11:66102557 | rs117873455 | RIN1 | C>T | 221 | 72 | 20.43 | 6.201e-06 | 0.534 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: H729 | Perforation of tympanic membrane, unspecified | 2/20 |