Statistics
| Case | Control |
|---|---|
| 494 | 459700 |
Phenotype Definition
An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:65458994 | rs4636677 | - | G>T | 110 | 58732 | 36.82 | 1.299e-09 | 1.828 |
| chr14:47236919 | rs117662109 | - | C>A | 31 | 10946 | 31.56 | 1.938e-08 | 2.679 |
| chr11:65618053 | rs117613663 | CFL1 | C>T | 90 | 47407 | 31.01 | 2.566e-08 | 1.832 |
| chr11:66055685 | rs11544832 | YIF1A | G>A | 84 | 42784 | 30.47 | 3.393e-08 | 1.858 |
| chr11:65294830 | rs1787663 | SCYL1 | C>A | 226 | 284721 | 30.17 | 3.953e-08 | 0.6638 |
| chr17:66671324 | rs17741957 | - | T>C | 409 | 304115 | 29.59 | 5.351e-08 | 1.409 |
| chr11:65565694 | rs116948503 | - | G>A | 73 | 36798 | 29.01 | 7.198e-08 | 1.902 |
| chr6:137004636 | rs73558238 | MAP3K5 | G>A | 66 | 32792 | 27.44 | 1.624e-07 | 1.925 |
| chr11:65302893 | rs947791 | SCYL1 | G>A | 155 | 208015 | 27.15 | 1.879e-07 | 0.6378 |
| chr11:66102557 | rs117873455 | RIN1 | C>T | 80 | 43222 | 25.1 | 5.451e-07 | 1.778 |
| chr6:54555590 | rs925054 | - | T>C | 74 | 39217 | 24.88 | 6.087e-07 | 1.81 |
| chr17:66665566 | rs35961643 | - | G>A | 438 | 335905 | 24.48 | 7.518e-07 | 1.362 |
| chr6:117767205 | rs76780347 | AL132671.2 | T>A | 82 | 45149 | 24.03 | 9.483e-07 | 1.746 |
| chr13:111093708 | rs77304337 | COL4A2 | G>A | 112 | 67109 | 23.66 | 1.152e-06 | 1.619 |
| chr19:41822986 | rs8109627 | TGFB1 | T>C | 215 | 263954 | 23.22 | 1.445e-06 | 0.6931 |
| chr17:2024588 | rs117334005 | SMG6 | A>C | 37 | 15863 | 22.8 | 1.794e-06 | 2.183 |
| chr11:65336483 | rs3782091 | - | T>G | 281 | 327335 | 22.33 | 2.298e-06 | 0.7202 |
| chr14:46783950 | rs117531052 | - | A>G | 26 | 9915 | 22.04 | 2.677e-06 | 2.466 |
| chr10:130932642 | rs111749370 | - | C>T | 80 | 44823 | 21.76 | 3.093e-06 | 1.71 |
| chr6:137001334 | rs73777958 | MAP3K5 | C>T | 66 | 35250 | 21.56 | 3.438e-06 | 1.791 |
| chr11:65458994 | rs4636677 | - | G>T | 107 | 56913 | 36.64 | 1.422e-09 | 1.842 |
| chr11:65294830 | rs1787663 | SCYL1 | C>A | 209 | 266028 | 29.41 | 5.854e-08 | 0.6573 |
| chr11:65618053 | rs117613663 | CFL1 | C>T | 87 | 46608 | 28.4 | 9.844e-08 | 1.804 |
| chr17:66671324 | rs17741957 | - | T>C | 395 | 295127 | 28.17 | 1.113e-07 | 1.41 |
| chr11:65302893 | rs947791 | SCYL1 | G>A | 147 | 199965 | 27.6 | 1.488e-07 | 0.6277 |
| chr11:66055685 | rs11544832 | YIF1A | G>A | 81 | 42202 | 27.27 | 1.769e-07 | 1.818 |
| chr13:111093708 | rs77304337 | COL4A2 | G>A | 108 | 62898 | 26.11 | 3.221e-07 | 1.675 |
| chr11:65565694 | rs116948503 | - | G>A | 70 | 36333 | 25.34 | 4.814e-07 | 1.85 |
| chr11:66102557 | rs117873455 | RIN1 | C>T | 79 | 42575 | 25.23 | 5.098e-07 | 1.789 |
| chr14:47236919 | rs117662109 | - | C>A | 27 | 10145 | 23.93 | 9.999e-07 | 2.516 |
| chr17:66665566 | rs35961643 | - | G>A | 423 | 325261 | 23.76 | 1.089e-06 | 1.367 |
| chr6:117767205 | rs76780347 | AL132671.2 | T>A | 80 | 44330 | 23.13 | 1.512e-06 | 1.741 |
| chr10:130932642 | rs111749370 | - | C>T | 79 | 43909 | 22.38 | 2.235e-06 | 1.731 |
| chr17:2024588 | rs117334005 | SMG6 | A>C | 36 | 15461 | 22.28 | 2.354e-06 | 2.187 |
| chr19:41822986 | rs8109627 | TGFB1 | T>C | 196 | 242840 | 22.13 | 2.544e-06 | 0.6884 |
| chr5:166918858 | rs12652771 | TENM2 | C>T | 17 | 5377 | 21.95 | 2.793e-06 | 2.983 |
| chr6:137004636 | rs73558238 | MAP3K5 | G>A | 57 | 29011 | 21.93 | 2.834e-06 | 1.876 |
| chr6:156426161 | rs73008343 | - | G>A | 31 | 12898 | 21.51 | 3.522e-06 | 2.279 |
| chr11:65336483 | rs3782091 | - | T>G | 255 | 300034 | 21.42 | 3.685e-06 | 0.7152 |
| chr2:53656304 | rs6732693 | - | T>C | 59 | 30654 | 21.33 | 3.861e-06 | 1.843 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: H809 | Otosclerosis, unspecified | 11/20 |
| ID | Name | Top Correlation |
|---|