Statistics
| Case | Control |
|---|---|
| 374 | 459820 |
Phenotype Definition
An increase in bone density affecting the basicranium (base of the skull). [HPO:probinson]
Phenotype Comment
Bundled term. Consider obsoleting it and splitting of osteosclerosis of base of skull.
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 | 94 | 58748 | 46.19 | 1.07e-11 | 2.076 |
| chr11:65565694 | rs116948503 | - | G>A | 64 | 36807 | 38.85 | 4.582e-10 | 2.208 |
| chr11:65618053 | rs117613663 | CFL1 | C>T | 76 | 47421 | 36.69 | 1.388e-09 | 2.045 |
| chr11:66055685 | rs11544832 | YIF1A | G>A | 71 | 42797 | 35.93 | 2.049e-09 | 2.076 |
| chr17:66671324 | rs17741957 | - | T>C | 326 | 304198 | 33.68 | 6.485e-09 | 1.514 |
| chr11:65302893 | rs947791 | SCYL1 | G>A | 107 | 208063 | 30.64 | 3.102e-08 | 0.567 |
| chr11:65294830 | rs1787663 | SCYL1 | C>A | 164 | 284783 | 29.92 | 4.51e-08 | 0.6222 |
| chr11:66102557 | rs117873455 | RIN1 | C>T | 67 | 43235 | 29.04 | 7.082e-08 | 1.965 |
| chr11:38991119 | rs72888754 | - | C>T | 59 | 37292 | 27.18 | 1.855e-07 | 1.997 |
| chr17:2024588 | rs117334005 | SMG6 | A>C | 32 | 15868 | 26.92 | 2.125e-07 | 2.474 |
| chr11:66036564 | rs117827012 | RAB1B | C>T | 110 | 83854 | 26.9 | 2.138e-07 | 1.693 |
| chr6:117767205 | rs76780347 | AL132671.2 | T>A | 68 | 45163 | 26.53 | 2.593e-07 | 1.901 |
| chr17:66665566 | rs35961643 | - | G>A | 346 | 335997 | 26.33 | 2.884e-07 | 1.439 |
| chr11:80802343 | rs1015202 | - | T>C | 25 | 11458 | 26.11 | 3.231e-07 | 2.711 |
| chr11:67688591 | rs263948 | - | G>A | 69 | 47250 | 25.48 | 4.467e-07 | 1.874 |
| chr11:67124992 | rs3909167 | RAD9A | T>G | 74 | 51771 | 24.49 | 7.465e-07 | 1.814 |
| chr8:117556270 | rs4876662 | - | G>A | 216 | 194880 | 24.09 | 9.176e-07 | 1.475 |
| chr11:67401299 | rs117624050 | TBX10 | C>A | 73 | 51165 | 23.85 | 1.043e-06 | 1.806 |
| chr19:41822986 | rs8109627 | TGFB1 | T>C | 156 | 264013 | 23.66 | 1.149e-06 | 0.65 |
| chr9:116152891 | rs8177807 | ALAD | A>G | 103 | 80006 | 22.87 | 1.733e-06 | 1.649 |
| chr11:65458994 | rs4636677 | - | G>T | 91 | 56929 | 46.19 | 1.073e-11 | 2.104 |
| chr11:65565694 | rs116948503 | - | G>A | 61 | 36342 | 34.57 | 4.103e-09 | 2.154 |
| chr11:65618053 | rs117613663 | CFL1 | C>T | 73 | 46622 | 33.93 | 5.724e-09 | 2.021 |
| chr17:66671324 | rs17741957 | - | T>C | 313 | 295209 | 32.77 | 1.035e-08 | 1.525 |
| chr11:66055685 | rs11544832 | YIF1A | G>A | 68 | 42215 | 32.73 | 1.057e-08 | 2.042 |
| chr11:65302893 | rs947791 | SCYL1 | G>A | 100 | 200012 | 31.04 | 2.522e-08 | 0.5542 |
| chr11:66102557 | rs117873455 | RIN1 | C>T | 66 | 42588 | 29.66 | 5.141e-08 | 1.992 |
| chr11:65294830 | rs1787663 | SCYL1 | C>A | 151 | 266086 | 28.1 | 1.151e-07 | 0.6197 |
| chr11:80802343 | rs1015202 | - | T>C | 23 | 9967 | 27.68 | 1.429e-07 | 2.9 |
| chr17:2024588 | rs117334005 | SMG6 | A>C | 31 | 15466 | 26.45 | 2.698e-07 | 2.491 |
| chr17:66665566 | rs35961643 | - | G>A | 332 | 325352 | 25.95 | 3.5e-07 | 1.452 |
| chr6:117767205 | rs76780347 | AL132671.2 | T>A | 66 | 44344 | 25.77 | 3.853e-07 | 1.904 |
| chr11:67124992 | rs3909167 | RAD9A | T>G | 73 | 51029 | 25.27 | 4.984e-07 | 1.841 |
| chr11:67688591 | rs263948 | - | G>A | 67 | 46396 | 24.87 | 6.13e-07 | 1.879 |
| chr11:67401299 | rs117624050 | TBX10 | C>A | 72 | 50463 | 24.52 | 7.365e-07 | 1.831 |
| chr11:38991119 | rs72888754 | - | C>T | 56 | 36803 | 23.57 | 1.202e-06 | 1.94 |
| chr11:66036564 | rs117827012 | RAB1B | C>T | 104 | 82022 | 23.01 | 1.613e-06 | 1.652 |
| chr19:41822986 | rs8109627 | TGFB1 | T>C | 140 | 242896 | 22.93 | 1.678e-06 | 0.6406 |
| chr21:22179707 | rs8126602 | - | T>G | 98 | 76324 | 22.4 | 2.211e-06 | 1.662 |
| chr13:111093708 | rs77304337 | COL4A2 | G>A | 83 | 62923 | 21.51 | 3.527e-06 | 1.706 |
| 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 | 14/20 |
| ID | Name | Top Correlation |
|---|