Statistics
| Case | Control |
|---|---|
| 442 | 459752 |
Phenotype Definition
A tumor (abnormal growth of tissue) of the face. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:216040589 | rs41277196 | USH2A | T>G | 25 | 10064 | 23.29 | 1.396e-06 | 2.57 |
| chr9:111562833 | rs117972024 | - | A>G | 35 | 16508 | 22.15 | 2.522e-06 | 2.205 |
| chr22:39571434 | rs926544 | - | C>T | 211 | 160625 | 21.92 | 2.844e-06 | 1.438 |
| chr9:111574525 | rs17801419 | - | A>G | 56 | 31513 | 21.43 | 3.679e-06 | 1.874 |
| chr12:57930310 | rs79512872 | DCTN2 | G>A | 63 | 36691 | 21.07 | 4.439e-06 | 1.804 |
| chr11:93179107 | rs2605586 | - | G>A | 108 | 72422 | 20.73 | 5.278e-06 | 1.586 |
| chr2:135219050 | rs11904278 | TMEM163 | T>C | 250 | 197207 | 20.58 | 5.723e-06 | 1.394 |
| chr1:34346184 | rs72663971 | CSMD2 | T>C | 4 | 27903 | 20.49 | 5.995e-06 | 0.1428 |
| chr3:103481463 | rs10511220 | - | G>A | 116 | 79308 | 20.35 | 6.438e-06 | 1.558 |
| chr1:27332637 | rs151266984 | TENT5B | T>G | 28 | 12558 | 20.28 | 6.705e-06 | 2.316 |
| chr8:145689667 | rs142152732 | CYHR1 | C>G | 47 | 25316 | 20.27 | 6.717e-06 | 1.939 |
| chr2:135231203 | rs1598279 | TMEM163 | T>C | 144 | 103449 | 20.26 | 6.754e-06 | 1.499 |
| chr8:11801503 | rs55906085 | - | A>G | 89 | 57442 | 19.98 | 7.814e-06 | 1.637 |
| chr12:56218568 | rs73119275 | AC023055.1 | T>C | 33 | 15863 | 19.95 | 7.958e-06 | 2.166 |
| chr6:85264502 | rs9362067 | - | T>C | 47 | 25552 | 19.66 | 9.239e-06 | 1.92 |
| chr16:82343810 | rs75293972 | - | C>T | 24 | 10233 | 19.61 | 9.519e-06 | 2.428 |
| chr6:85330517 | rs10455432 | - | G>A | 38 | 19458 | 19.29 | 1.124e-05 | 2.039 |
| chr17:44855578 | rs67143796 | WNT3 | T>C | 33 | 16126 | 19.21 | 1.169e-05 | 2.136 |
| chr3:19693610 | rs75024326 | - | C>T | 75 | 46964 | 19.13 | 1.219e-05 | 1.683 |
| chr10:15415828 | rs77079513 | - | T>C | 25 | 11045 | 18.77 | 1.476e-05 | 2.349 |
| chr3:103481463 | rs10511220 | - | G>A | 112 | 74335 | 24.87 | 6.136e-07 | 1.648 |
| chr1:216040589 | rs41277196 | USH2A | T>G | 24 | 9686 | 23.22 | 1.442e-06 | 2.615 |
| chr22:39571434 | rs926544 | - | C>T | 191 | 144638 | 23.14 | 1.508e-06 | 1.479 |
| chr12:57930310 | rs79512872 | DCTN2 | G>A | 61 | 34964 | 23.12 | 1.525e-06 | 1.874 |
| chr6:85330517 | rs10455432 | - | G>A | 37 | 18506 | 21.29 | 3.94e-06 | 2.133 |
| chr8:145689667 | rs142152732 | CYHR1 | C>G | 46 | 24861 | 20.89 | 4.863e-06 | 1.973 |
| chr8:11801503 | rs55906085 | - | A>G | 87 | 56408 | 20.88 | 4.897e-06 | 1.667 |
| chr8:35255736 | rs17257539 | UNC5D | C>T | 91 | 59942 | 20.73 | 5.283e-06 | 1.647 |
| chr1:27332637 | rs151266984 | TENT5B | T>G | 27 | 12178 | 20.25 | 6.796e-06 | 2.35 |
| chr5:92945156 | rs318105 | - | C>T | 196 | 151903 | 20.24 | 6.827e-06 | 1.437 |
| chr12:56218568 | rs73119275 | AC023055.1 | T>C | 32 | 15464 | 20.11 | 7.295e-06 | 2.199 |
| chr9:111562833 | rs117972024 | - | A>G | 33 | 16167 | 19.84 | 8.404e-06 | 2.164 |
| chr8:25057588 | rs118039397 | DOCK5 | T>C | 25 | 11019 | 19.73 | 8.898e-06 | 2.397 |
| chr23:114406678 | rs141195183 | LRCH2 | T>C | 30 | 16162 | 19.59 | 9.593e-06 | 2.246 |
| chr1:112348179 | rs1871216 | KCND3 | T>G | 60 | 36017 | 19.51 | 9.991e-06 | 1.792 |
| chr1:80564668 | rs72690109 | - | A>G | 107 | 74415 | 19.37 | 1.079e-05 | 1.569 |
| chr3:19693610 | rs75024326 | - | C>T | 73 | 46189 | 19.36 | 1.08e-05 | 1.702 |
| chr1:34346184 | rs72663971 | CSMD2 | T>C | 4 | 27239 | 19.34 | 1.092e-05 | 0.149 |
| chr1:52033122 | rs12038297 | - | A>C | 142 | 104241 | 19.12 | 1.23e-05 | 1.489 |
| chr6:85462205 | rs148065597 | TBX18 | A>G | 36 | 18525 | 19.01 | 1.302e-05 | 2.068 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr3:103481463 | rs10511220 | - | G>A | 112 | 8048 | 24.77 | 6.445e-07 | 1.651 |
| chr1:216040589 | rs41277196 | USH2A | T>G | 24 | 1021 | 24.25 | 8.476e-07 | 2.691 |
| chr22:39571434 | rs926544 | - | C>T | 191 | 15577 | 23.92 | 1.006e-06 | 1.491 |
| chr12:57930310 | rs79512872 | DCTN2 | G>A | 61 | 3739 | 23.9 | 1.012e-06 | 1.902 |
| chr8:11801503 | rs55906085 | - | A>G | 87 | 5959 | 22.97 | 1.642e-06 | 1.713 |
| chr8:145689667 | rs142152732 | CYHR1 | C>G | 46 | 2653 | 21.66 | 3.257e-06 | 2.007 |
| chr8:25057588 | rs118039397 | DOCK5 | T>C | 25 | 1158 | 20.91 | 4.807e-06 | 2.475 |
| chr9:111562833 | rs117972024 | - | A>G | 33 | 1710 | 20.89 | 4.852e-06 | 2.22 |
| chr23:114406678 | rs141195183 | LRCH2 | T>C | 30 | 1695 | 20.7 | 5.374e-06 | 2.308 |
| chr16:82343810 | rs75293972 | - | C>T | 23 | 1039 | 20.41 | 6.256e-06 | 2.537 |
| chr12:56218568 | rs73119275 | AC023055.1 | T>C | 32 | 1667 | 20.11 | 7.322e-06 | 2.212 |
| chr9:111574525 | rs17801419 | - | A>G | 52 | 3217 | 20.02 | 7.646e-06 | 1.885 |
| chr5:92945156 | rs318105 | - | C>T | 196 | 16509 | 19.78 | 8.692e-06 | 1.434 |
| chr8:10721128 | rs4841456 | - | A>C | 50 | 3053 | 19.65 | 9.278e-06 | 1.896 |
| chr10:15415828 | rs77079513 | - | T>C | 24 | 1130 | 19.57 | 9.717e-06 | 2.45 |
| chr1:34346184 | rs72663971 | CSMD2 | T>C | 4 | 2966 | 19.43 | 1.044e-05 | 0.1484 |
| chr1:112348179 | rs1871216 | KCND3 | T>G | 60 | 3898 | 19.42 | 1.048e-05 | 1.796 |
| chr1:80564668 | rs72690109 | - | A>G | 107 | 8052 | 19.39 | 1.065e-05 | 1.573 |
| chr2:135219050 | rs11904278 | TMEM163 | T>C | 217 | 18682 | 19.2 | 1.177e-05 | 1.409 |
| chr8:35255736 | rs17257539 | UNC5D | C>T | 91 | 6602 | 19.16 | 1.202e-05 | 1.621 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: D140 | Middle ear, nasal cavity and accessory sinuses | 2/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: J157 | Pneumonia due to Mycoplasma pneumoniae | 0/20 |