Statistics
| Case | Control |
|---|---|
| 550 | 459644 |
Phenotype Definition
A bilateral type of conductive hearing impairment. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:96565103 | rs7936111 | - | A>G | 278 | 166098 | 40.72 | 1.756e-10 | 1.547 |
| chr3:18333187 | rs116400251 | TBC1D5 | G>A | 41 | 15191 | 29.96 | 4.408e-08 | 2.331 |
| chr5:8101782 | rs115551416 | - | G>A | 47 | 20168 | 22.85 | 1.748e-06 | 2.011 |
| chr5:134862751 | rs72787157 | - | G>A | 86 | 44596 | 22.32 | 2.306e-06 | 1.689 |
| chr20:62193445 | rs3810481 | HELZ2 | G>A | 263 | 170333 | 22.02 | 2.693e-06 | 1.388 |
| chr2:34108879 | rs11692319 | - | C>T | 68 | 33368 | 21.39 | 3.749e-06 | 1.77 |
| chr3:30309919 | rs4955322 | - | T>C | 120 | 149189 | 21.26 | 4.007e-06 | 0.6432 |
| chr7:120710688 | rs116874351 | CPED1 | G>A | 35 | 13902 | 21.08 | 4.416e-06 | 2.159 |
| chr10:20069001 | rs2884469 | MALRD1 | C>T | 65 | 31982 | 20.19 | 7.009e-06 | 1.762 |
| chr11:63859475 | rs118116176 | MACROD1 | C>T | 59 | 28309 | 20.1 | 7.332e-06 | 1.806 |
| chr1:57829694 | rs115659376 | DAB1 | G>A | 68 | 33893 | 20.0 | 7.728e-06 | 1.738 |
| chr20:4753695 | rs2422962 | - | G>A | 469 | 461166 | 19.73 | 8.904e-06 | 0.7664 |
| chr5:27299743 | rs115957320 | - | A>C | 52 | 24205 | 19.58 | 9.645e-06 | 1.857 |
| chr23:85969783 | rs147817660 | DACH2 | T>C | 28 | 10589 | 19.5 | 1.005e-05 | 2.283 |
| chr15:35477005 | rs117324054 | - | T>C | 33 | 13189 | 19.44 | 1.036e-05 | 2.141 |
| chr3:10862413 | rs66501963 | SLC6A11 | A>G | 52 | 78046 | 19.29 | 1.125e-05 | 0.5413 |
| chr6:147276359 | rs4548030 | - | T>C | 525 | 388300 | 19.16 | 1.202e-05 | 1.299 |
| chr1:247457770 | rs74912511 | - | A>G | 38 | 16112 | 19.01 | 1.303e-05 | 2.024 |
| chr5:27215645 | rs79989613 | - | C>T | 51 | 23767 | 18.87 | 1.398e-05 | 1.846 |
| chr16:7265495 | rs117660273 | RBFOX1 | G>C | 80 | 42240 | 18.71 | 1.525e-05 | 1.643 |
| chr11:96565103 | rs7936111 | - | A>G | 270 | 161201 | 37.4 | 9.624e-10 | 1.531 |
| chr15:57993627 | rs57986545 | GCOM1 | G>C | 142 | 78384 | 26.87 | 2.178e-07 | 1.588 |
| chr5:67022213 | rs12516252 | - | C>A | 122 | 65744 | 25.66 | 4.062e-07 | 1.62 |
| chr3:18333187 | rs116400251 | TBC1D5 | G>A | 39 | 14940 | 25.38 | 4.717e-07 | 2.227 |
| chr5:134862751 | rs72787157 | - | G>A | 84 | 42054 | 24.04 | 9.423e-07 | 1.734 |
| chr5:111517942 | rs74550017 | EPB41L4A | G>A | 22 | 6992 | 22.29 | 2.348e-06 | 2.661 |
| chr5:8101782 | rs115551416 | - | G>A | 46 | 19577 | 22.22 | 2.437e-06 | 2.007 |
| chr2:34108879 | rs11692319 | - | C>T | 68 | 32939 | 21.42 | 3.693e-06 | 1.772 |
| chr20:62193445 | rs3810481 | HELZ2 | G>A | 250 | 160519 | 20.51 | 5.926e-06 | 1.384 |
| chr11:63859475 | rs118116176 | MACROD1 | C>T | 59 | 27938 | 20.28 | 6.69e-06 | 1.812 |
| chr8:102774523 | rs74946044 | NCALD | T>C | 35 | 14014 | 19.96 | 7.893e-06 | 2.119 |
| chr23:85969783 | rs147817660 | DACH2 | T>C | 28 | 10417 | 19.71 | 9.009e-06 | 2.294 |
| chr15:35477005 | rs117324054 | - | T>C | 32 | 12589 | 19.09 | 1.245e-05 | 2.151 |
| chr3:86291399 | rs34547545 | - | A>G | 210 | 132680 | 18.91 | 1.37e-05 | 1.395 |
| chr7:120710688 | rs116874351 | CPED1 | G>A | 34 | 13754 | 18.84 | 1.421e-05 | 2.096 |
| chr14:61879817 | rs12892443 | PRKCH | T>G | 359 | 246118 | 18.81 | 1.447e-05 | 1.321 |
| chr2:197122111 | rs12474776 | HECW2 | C>T | 42 | 18279 | 18.77 | 1.472e-05 | 1.954 |
| chr3:30309919 | rs4955322 | - | T>C | 117 | 141200 | 18.77 | 1.476e-05 | 0.6565 |
| chr3:197154921 | rs74485970 | - | A>C | 42 | 18306 | 18.7 | 1.529e-05 | 1.952 |
| chr9:93906383 | rs12337100 | - | T>C | 205 | 129664 | 18.51 | 1.69e-05 | 1.394 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:57993627 | rs57986545 | GCOM1 | G>C | 142 | 370 | 30.81 | 2.844e-08 | 1.78 |
| chr11:96565103 | rs7936111 | - | A>G | 270 | 854 | 26.77 | 2.286e-07 | 1.507 |
| chr5:67022213 | rs12516252 | - | C>A | 122 | 335 | 21.13 | 4.29e-06 | 1.662 |
| chr3:78334637 | rs6796148 | - | C>T | 76 | 182 | 21.1 | 4.354e-06 | 1.892 |
| chr3:18333187 | rs116400251 | TBC1D5 | G>A | 39 | 71 | 21.02 | 4.55e-06 | 2.455 |
| chr5:39541408 | rs2939330 | - | T>C | 209 | 653 | 20.91 | 4.813e-06 | 1.49 |
| chr1:9777599 | rs61755420 | PIK3CD | C>G | 47 | 95 | 20.4 | 6.287e-06 | 2.226 |
| chr11:31941777 | rs16922604 | AL035078.4 | C>T | 29 | 46 | 20.1 | 7.364e-06 | 2.8 |
| chr9:78304647 | rs116878256 | - | G>A | 36 | 65 | 19.67 | 9.195e-06 | 2.47 |
| chr10:100369054 | rs116873872 | HPSE2 | T>G | 33 | 58 | 18.97 | 1.326e-05 | 2.532 |
| chr5:24914619 | rs55996076 | - | C>T | 151 | 449 | 18.93 | 1.353e-05 | 1.546 |
| chr12:111615151 | rs118169009 | CUX2 | C>T | 39 | 75 | 18.77 | 1.478e-05 | 2.325 |
| chr5:8101782 | rs115551416 | - | G>A | 46 | 95 | 18.76 | 1.482e-05 | 2.168 |
| chr16:7265495 | rs117660273 | RBFOX1 | G>C | 79 | 199 | 18.4 | 1.791e-05 | 1.79 |
| chr18:32759085 | rs11662715 | - | T>C | 242 | 798 | 18.28 | 1.909e-05 | 1.421 |
| chr20:4724848 | rs6052815 | - | A>C | 161 | 975 | 18.28 | 1.906e-05 | 0.6745 |
| chr10:99379736 | rs78373863 | AL355315.1 | A>G | 93 | 247 | 18.18 | 2.014e-05 | 1.706 |
| chr9:518593 | rs80055999 | KANK1 | T>C | 67 | 162 | 18.01 | 2.198e-05 | 1.867 |
| chr19:6819994 | rs73484431 | VAV1 | A>G | 54 | 120 | 18.0 | 2.211e-05 | 2.008 |
| chr2:197122111 | rs12474776 | HECW2 | C>T | 42 | 85 | 17.85 | 2.39e-05 | 2.204 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: H902 | Conductive hearing loss, unspecified | 4/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: H901 | Conductive hearing loss, unilateral with unrestricted hearing on the contralateral side | 0/20 |