Statistics
| Case | Control |
|---|---|
| 4710 | 455484 |
Phenotype Definition
A growth pattern that displays an abnormal difference between the left and the right side. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr5:33951693 | rs16891982 | SLC45A2 | G>C | 368 | 66690 | 143.2 | 5.2e-33 | 0.5339 |
| chr5:33958959 | rs28777 | SLC45A2 | A>C | 320 | 56672 | 113.8 | 1.446e-26 | 0.5492 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 110 | 27416 | 100.9 | 9.477e-24 | 0.394 |
| chr5:33951116 | rs35397 | SLC45A2 | T>G | 624 | 89484 | 90.49 | 1.857e-21 | 0.6752 |
| chr15:48392165 | rs1834640 | - | A>G | 152 | 31472 | 86.69 | 1.267e-20 | 0.4744 |
| chr4:111910180 | rs17042615 | - | C>T | 54 | 16080 | 71.9 | 2.262e-17 | 0.3321 |
| chr5:33955326 | rs35390 | SLC45A2 | A>C | 243 | 40904 | 70.22 | 5.315e-17 | 0.583 |
| chr5:33955673 | rs35391 | SLC45A2 | C>T | 243 | 40737 | 69.2 | 8.877e-17 | 0.5852 |
| chr13:72441665 | rs3759505 | - | C>T | 61 | 16654 | 67.9 | 1.724e-16 | 0.362 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 2309 | 198896 | 66.82 | 2.978e-16 | 1.217 |
| chr5:147863034 | rs9325101 | HTR4 | A>G | 63 | 16677 | 65.53 | 5.733e-16 | 0.3735 |
| chr6:136480972 | rs9483910 | PDE7B | C>T | 98 | 21272 | 63.29 | 1.788e-15 | 0.4543 |
| chr6:3185712 | rs7754077 | - | C>T | 81 | 18591 | 60.27 | 8.286e-15 | 0.4304 |
| chr16:89101485 | rs73258295 | - | T>G | 143 | 26823 | 60.14 | 8.84e-15 | 0.5252 |
| chr19:42391425 | rs28521795 | ARHGEF1 | G>A | 83 | 18739 | 59.26 | 1.383e-14 | 0.4375 |
| chr12:50366300 | rs2849266 | AQP6 | A>G | 708 | 93028 | 59.14 | 1.469e-14 | 0.7406 |
| chr16:89986117 | Affx-35293625 | MC1R | C>T | 1165 | 93913 | 59.09 | 1.509e-14 | 1.273 |
| chr17:75423198 | rs312893 | SEPTIN9 | C>A | 101 | 21097 | 58.5 | 2.035e-14 | 0.4727 |
| chr9:16507737 | rs7849139 | BNC2 | C>A | 407 | 58676 | 58.37 | 2.176e-14 | 0.6798 |
| chr19:42393286 | rs717225 | ARHGEF1 | A>G | 107 | 21836 | 58.05 | 2.559e-14 | 0.4836 |
| chr8:101062888 | rs7818948 | RGS22 | G>A | 1231 | 142098 | 45.85 | 1.277e-11 | 0.8126 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 2295 | 196620 | 45.57 | 1.47e-11 | 1.177 |
| chr16:89986117 | Affx-35293625 | MC1R | C>T | 1159 | 93032 | 44.43 | 2.631e-11 | 1.234 |
| chr2:202143928 | rs10931936 | CASP8 | C>T | 2809 | 243830 | 44.38 | 2.705e-11 | 1.163 |
| chr2:202122995 | rs3769823 | CASP8 | G>A | 2941 | 257241 | 41.91 | 9.572e-11 | 1.156 |
| chr16:89818732 | rs12931267 | FANCA | C>G | 1138 | 91957 | 40.46 | 2.009e-10 | 1.224 |
| chr8:101022381 | rs77210013 | RGS22 | C>T | 655 | 79104 | 34.82 | 3.624e-09 | 0.787 |
| chr11:89005253 | rs1847134 | TYR | A>C | 3420 | 305238 | 32.67 | 1.089e-08 | 1.131 |
| chr20:2290333 | rs214803 | AL121899.2 | A>C | 1904 | 163396 | 32.53 | 1.174e-08 | 1.158 |
| chr6:421281 | rs62389423 | - | G>A | 1863 | 160002 | 31.78 | 1.73e-08 | 1.158 |
| chr11:89017961 | rs1126809 | TYR | G>A | 2981 | 264356 | 29.64 | 5.189e-08 | 1.13 |
| chr20:2279955 | rs62192643 | AL121899.2 | G>A | 1548 | 132299 | 27.42 | 1.639e-07 | 1.158 |
| chr2:202215492 | rs13014235 | FLACC1 | G>C | 3929 | 356507 | 27.12 | 1.908e-07 | 1.116 |
| chr2:202202791 | rs10201587 | FLACC1 | G>A | 4832 | 443563 | 27.01 | 2.019e-07 | 1.114 |
| chr1:228989201 | rs801109 | - | C>T | 2598 | 229936 | 26.9 | 2.146e-07 | 1.128 |
| chr16:90024202 | rs8049897 | DEF8 | G>A | 1799 | 155480 | 26.65 | 2.435e-07 | 1.146 |
| chr16:90048395 | rs45610233 | - | C>T | 1000 | 82656 | 26.59 | 2.521e-07 | 1.189 |
| chr1:95538424 | rs34364382 | ALG14 | C>T | 189 | 12604 | 26.46 | 2.687e-07 | 1.46 |
| chr16:90067136 | rs78800020 | - | G>C | 1048 | 87145 | 26.18 | 3.111e-07 | 1.183 |
| chr11:89037936 | rs1806319 | - | T>C | 3804 | 344808 | 26.09 | 3.264e-07 | 1.114 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr16:89986117 | Affx-35293625 | MC1R | C>T | 1159 | 12554 | 43.91 | 3.445e-11 | 1.242 |
| chr8:101062888 | rs7818948 | RGS22 | G>A | 1231 | 19212 | 41.45 | 1.208e-10 | 0.8164 |
| chr16:89818732 | rs12931267 | FANCA | C>G | 1138 | 12435 | 39.04 | 4.152e-10 | 1.229 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 2295 | 26957 | 35.98 | 1.99e-09 | 1.162 |
| chr2:202143928 | rs10931936 | CASP8 | C>T | 2809 | 33368 | 35.51 | 2.535e-09 | 1.15 |
| chr2:202122995 | rs3769823 | CASP8 | G>A | 2941 | 35188 | 33.6 | 6.785e-09 | 1.143 |
| chr16:90024202 | rs8049897 | DEF8 | G>A | 1799 | 20779 | 32.24 | 1.365e-08 | 1.167 |
| chr1:228989201 | rs801109 | - | C>T | 2598 | 30863 | 31.99 | 1.552e-08 | 1.145 |
| chr20:2290333 | rs214803 | AL121899.2 | A>C | 1904 | 22147 | 31.11 | 2.434e-08 | 1.161 |
| chr16:90048395 | rs45610233 | - | C>T | 1000 | 11059 | 29.45 | 5.731e-08 | 1.208 |
| chr8:101022381 | rs77210013 | RGS22 | C>T | 655 | 10596 | 29.14 | 6.73e-08 | 0.7985 |
| chr16:90067136 | rs78800020 | - | G>C | 1048 | 11686 | 28.41 | 9.823e-08 | 1.2 |
| chr5:87407156 | rs17207520 | - | C>T | 295 | 2810 | 28.33 | 1.023e-07 | 1.39 |
| chr5:1342714 | rs31489 | CLPTM1L | C>A | 3616 | 50911 | 28.17 | 1.111e-07 | 0.89 |
| chr16:90027626 | rs8063761 | DEF8 | A>T | 3454 | 42039 | 27.94 | 1.254e-07 | 1.125 |
| chr11:89005253 | rs1847134 | TYR | A>C | 3420 | 41583 | 27.93 | 1.259e-07 | 1.125 |
| chr16:90067184 | rs73283869 | - | G>A | 1040 | 11615 | 27.71 | 1.409e-07 | 1.198 |
| chr6:421281 | rs62389423 | - | G>A | 1863 | 21830 | 27.08 | 1.956e-07 | 1.15 |
| chr16:90093075 | rs77270200 | GAS8 | G>A | 1111 | 12526 | 26.18 | 3.107e-07 | 1.186 |
| chr5:1322087 | rs401681 | CLPTM1L | C>T | 3909 | 54592 | 25.53 | 4.344e-07 | 0.8962 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: C445 | Skin of trunk | 12/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: D045 | Skin of trunk | 0/20 |
| ICD-10: D235 | Skin of trunk | 0/20 |
| ICD-10: L918 | Other hypertrophic disorders of skin | 0/20 |