Statistics
| Case | Control |
|---|---|
| 23396 | 436798 |
Phenotype Definition
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr23:64367019 | rs7064929 | - | G>A | 1053 | 16513 | 24.49 | 7.48e-07 | 1.173 |
| chr6:31557791 | rs11575839 | NCR3 | G>A | 1313 | 21261 | 24.38 | 7.897e-07 | 1.153 |
| chr6:31546980 | rs3093671 | - | G>A | 1221 | 19700 | 23.82 | 1.055e-06 | 1.157 |
| chr7:120173630 | rs802374 | KCND2 | G>A | 768 | 17055 | 23.54 | 1.221e-06 | 0.8351 |
| chr23:150891499 | rs13047 | FATE1 | A>C | 2723 | 45539 | 22.89 | 1.716e-06 | 1.103 |
| chr16:6114071 | rs8045590 | RBFOX1 | A>C | 6492 | 114082 | 22.62 | 1.977e-06 | 1.067 |
| chr13:73921973 | rs7988001 | - | T>C | 5849 | 115396 | 22.38 | 2.232e-06 | 0.9347 |
| chr19:34094912 | rs12983481 | - | T>C | 13373 | 257725 | 22.07 | 2.63e-06 | 0.9524 |
| chr1:235076889 | rs72754144 | - | T>C | 9260 | 179960 | 21.55 | 3.443e-06 | 0.9466 |
| chr23:19209307 | rs960190 | - | T>C | 1479 | 24002 | 21.07 | 4.429e-06 | 1.133 |
| chr25:524669 | rs6645166 | - | G>A | 16078 | 307967 | 21.05 | 4.48e-06 | 0.9549 |
| chr1:151104078 | rs4971004 | - | C>T | 19311 | 368709 | 20.96 | 4.693e-06 | 0.9577 |
| chr23:40306474 | rs59151655 | - | T>G | 903 | 14161 | 20.8 | 5.092e-06 | 1.171 |
| chr1:240249915 | rs1341816 | FMN2 | T>C | 7581 | 148074 | 20.69 | 5.414e-06 | 0.9435 |
| chr4:6304469 | rs1046325 | WFS1 | A>G | 4107 | 71310 | 20.29 | 6.661e-06 | 1.078 |
| chr2:144442150 | rs6708276 | ARHGAP15 | A>G | 17413 | 333093 | 20.16 | 7.127e-06 | 0.9576 |
| chr8:132002356 | rs79539044 | ADCY8 | C>T | 634 | 9828 | 20.08 | 7.446e-06 | 1.203 |
| chr13:19653666 | rs12430571 | - | A>G | 4565 | 90497 | 19.98 | 7.827e-06 | 0.9313 |
| chr6:31489644 | rs3132454 | - | A>G | 17535 | 317336 | 19.7 | 9.084e-06 | 1.044 |
| chr7:148335417 | rs73158206 | - | T>C | 1926 | 39622 | 19.42 | 1.05e-05 | 0.9005 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 10534 | 188381 | 23.47 | 1.269e-06 | 1.057 |
| chr18:72264473 | rs7505334 | - | T>C | 9590 | 187059 | 22.17 | 2.497e-06 | 0.9462 |
| chr2:144442150 | rs6708276 | ARHGAP15 | A>G | 16553 | 318409 | 21.88 | 2.905e-06 | 0.9546 |
| chr5:56273400 | rs7736675 | - | C>T | 9257 | 180632 | 21.31 | 3.911e-06 | 0.9465 |
| chr18:72263590 | rs6566816 | - | A>G | 9601 | 187160 | 21.31 | 3.912e-06 | 0.9472 |
| chr6:31489644 | rs3132454 | - | A>G | 16391 | 297125 | 21.21 | 4.108e-06 | 1.047 |
| chr7:219031 | rs67904661 | FAM20C | A>G | 13803 | 249176 | 21.12 | 4.315e-06 | 1.049 |
| chr18:72342869 | rs3794944 | ZNF407 | T>G | 7386 | 144977 | 20.71 | 5.331e-06 | 0.9425 |
| chr5:56225769 | rs189695 | MIER3 | C>T | 11101 | 215287 | 20.64 | 5.556e-06 | 0.9506 |
| chr13:73921973 | rs7988001 | - | T>C | 5496 | 108724 | 20.34 | 6.467e-06 | 0.9358 |
| chr25:524669 | rs6645166 | - | G>A | 15280 | 293803 | 20.34 | 6.471e-06 | 0.9544 |
| chr8:132002356 | rs79539044 | ADCY8 | C>T | 613 | 9501 | 20.26 | 6.767e-06 | 1.207 |
| chr1:240249915 | rs1341816 | FMN2 | T>C | 7103 | 139350 | 19.93 | 8.054e-06 | 0.9427 |
| chr1:151104078 | rs4971004 | - | C>T | 18491 | 354248 | 19.7 | 9.069e-06 | 0.9578 |
| chr8:114801369 | rs75707456 | - | A>G | 1089 | 23277 | 19.65 | 9.31e-06 | 0.8703 |
| chr7:12058208 | rs6956188 | - | G>A | 15719 | 284892 | 19.14 | 1.215e-05 | 1.045 |
| chr9:124867491 | rs117821317 | - | G>A | 1477 | 24566 | 19.07 | 1.258e-05 | 1.126 |
| chr19:34094912 | rs12983481 | - | T>C | 12612 | 243581 | 19.0 | 1.309e-05 | 0.9545 |
| chr7:83792154 | rs73179366 | SEMA3A | C>T | 6925 | 135761 | 18.94 | 1.35e-05 | 0.9436 |
| chr2:144496336 | rs55886108 | ARHGAP15 | C>T | 17625 | 337958 | 18.92 | 1.36e-05 | 0.9582 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:101230702 | rs117838237 | - | C>T | 592 | 3 | 113.3 | 1.878e-26 | 0.01284 |
| chr6:79784098 | rs72904885 | PHIP | T>C | 1089 | 4 | 108.7 | 1.914e-25 | 0.01194 |
| chr6:79562115 | rs72901148 | - | G>A | 1093 | 4 | 108.4 | 2.248e-25 | 0.01197 |
| chr13:91363516 | rs76107156 | - | A>G | 659 | 3 | 101.3 | 7.904e-24 | 0.01432 |
| chr23:34623106 | rs73205488 | - | G>A | 732 | 2 | 97.56 | 5.229e-23 | 0.0 |
| chr22:34336250 | rs76817235 | - | G>A | 728 | 3 | 91.24 | 1.273e-21 | 0.01586 |
| chr3:115588431 | rs11927271 | LSAMP | G>A | 792 | 3 | 82.0 | 1.36e-19 | 0.01759 |
| chr22:34315577 | rs2267327 | LARGE1 | C>T | 899 | 3 | 73.2 | 1.174e-17 | 0.01963 |
| chr16:60544565 | rs8061227 | - | T>C | 903 | 3 | 72.98 | 1.312e-17 | 0.01969 |
| chr4:167039582 | rs78085713 | - | T>A | 1009 | 3 | 64.62 | 9.075e-16 | 0.02213 |
| chr2:44161960 | rs4494798 | LRPPRC | T>C | 661 | 2 | 64.59 | 9.225e-16 | 0.01498 |
| chr17:80838723 | rs114001811 | TBCD | C>T | 1010 | 3 | 64.52 | 9.551e-16 | 0.02216 |
| chr9:8123984 | rs117870428 | - | G>T | 464 | 2 | 63.53 | 1.583e-15 | 0.02007 |
| chr14:93099890 | rs117914579 | RIN3 | G>A | 1042 | 3 | 62.62 | 2.501e-15 | 0.02281 |
| chr23:99347816 | rs7062296 | - | G>A | 748 | 2 | 62.23 | 3.055e-15 | 0.01046 |
| chr1:184863330 | rs78908040 | NIBAN1 | G>A | 1054 | 3 | 61.87 | 3.66e-15 | 0.02307 |
| chr3:75238423 | rs79210092 | - | G>C | 451 | 2 | 61.48 | 4.48e-15 | 0.02071 |
| chr12:4030575 | rs6489503 | - | C>T | 483 | 2 | 60.97 | 5.798e-15 | 0.02088 |
| chr17:2993792 | rs117443626 | OR1D2 | C>T | 476 | 2 | 60.68 | 6.723e-15 | 0.02097 |
| chr12:66137691 | rs12582288 | - | A>G | 124 | 1 | 60.53 | 7.248e-15 | 0.0133 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: E349 | Endocrine disorder, unspecified | 1/20 |
| ICD: M75 | Shoulder lesions | 2/20 |
| ICD: R590 | Localised enlarged lymph nodes | 2/20 |