Statistics
| Case | Control |
|---|---|
| 4374 | 455820 |
Phenotype Definition
The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:226352498 | rs2306120 | ACBD3 | G>T | 3216 | 358981 | 26.41 | 2.764e-07 | 0.8909 |
| chr2:6799048 | rs13427729 | - | T>C | 3580 | 399695 | 25.68 | 4.037e-07 | 0.8967 |
| chr23:41248388 | rs112780869 | - | T>C | 868 | 78131 | 23.74 | 1.105e-06 | 1.194 |
| chr16:81760707 | rs12446982 | - | G>T | 4489 | 446594 | 22.53 | 2.071e-06 | 1.105 |
| chr1:238449126 | rs17592793 | - | T>C | 1466 | 138025 | 20.16 | 7.105e-06 | 1.137 |
| chr8:25776257 | rs76875967 | EBF2 | A>C | 361 | 29975 | 20.09 | 7.377e-06 | 1.273 |
| chr12:1336910 | rs7316520 | ERC1 | C>T | 220 | 17062 | 19.94 | 7.994e-06 | 1.357 |
| chr13:61276558 | rs17803331 | - | A>G | 359 | 29881 | 19.73 | 8.912e-06 | 1.271 |
| chr4:47584046 | rs1058793 | ATP10D | G>A | 1362 | 159650 | 19.68 | 9.134e-06 | 0.8775 |
| chr10:49977285 | rs34923764 | WDFY4 | T>C | 2317 | 224406 | 19.68 | 9.172e-06 | 1.113 |
| chr13:105362239 | rs78746334 | - | C>T | 258 | 20619 | 19.34 | 1.093e-05 | 1.321 |
| chr8:25604850 | rs76841324 | - | A>G | 287 | 23299 | 19.23 | 1.158e-05 | 1.302 |
| chr2:20645506 | rs2602160 | - | T>C | 2630 | 256199 | 18.96 | 1.332e-05 | 1.106 |
| chr3:144720105 | rs116144473 | - | C>A | 332 | 27537 | 18.81 | 1.44e-05 | 1.275 |
| chr6:29833948 | rs2734973 | - | C>T | 1248 | 116644 | 18.77 | 1.477e-05 | 1.142 |
| chr5:18327605 | rs314025 | - | C>T | 776 | 70031 | 18.65 | 1.568e-05 | 1.177 |
| chr13:79735667 | rs633470 | - | T>G | 2502 | 243527 | 18.5 | 1.699e-05 | 1.107 |
| chr6:29879379 | rs2524026 | - | C>A | 457 | 39393 | 18.45 | 1.741e-05 | 1.23 |
| chr9:124371628 | rs118115974 | DAB2IP | G>A | 406 | 34518 | 18.43 | 1.758e-05 | 1.245 |
| chr5:4261730 | rs1501734 | - | G>C | 155 | 22832 | 18.36 | 1.832e-05 | 0.7071 |
| chr2:6799048 | rs13427729 | - | T>C | 3397 | 378162 | 27.62 | 1.479e-07 | 0.8905 |
| chr16:81760707 | rs12446982 | - | G>T | 4283 | 421579 | 24.66 | 6.831e-07 | 1.113 |
| chr5:18393530 | rs1918343 | - | G>A | 736 | 64350 | 23.99 | 9.703e-07 | 1.209 |
| chr1:226352498 | rs2306120 | ACBD3 | G>T | 3031 | 334147 | 21.45 | 3.625e-06 | 0.8985 |
| chr5:18334297 | rs12516356 | - | C>G | 715 | 63168 | 20.83 | 5.031e-06 | 1.196 |
| chr4:47584046 | rs1058793 | ATP10D | G>A | 1235 | 145042 | 20.7 | 5.384e-06 | 0.8692 |
| chr5:18327605 | rs314025 | - | C>T | 704 | 62139 | 20.49 | 5.997e-06 | 1.196 |
| chr3:161737937 | rs34670686 | - | T>C | 727 | 88677 | 19.75 | 8.809e-06 | 0.8414 |
| chr12:1336910 | rs7316520 | ERC1 | C>T | 217 | 16746 | 19.44 | 1.038e-05 | 1.355 |
| chr6:29833948 | rs2734973 | - | C>T | 1204 | 111332 | 19.42 | 1.05e-05 | 1.147 |
| chr8:22227141 | rs79677354 | SLC39A14 | C>T | 255 | 20203 | 19.39 | 1.064e-05 | 1.324 |
| chr1:238449126 | rs17592793 | - | T>C | 1425 | 133412 | 19.35 | 1.089e-05 | 1.137 |
| chr13:61276558 | rs17803331 | - | A>G | 350 | 28918 | 19.27 | 1.136e-05 | 1.272 |
| chr4:47568964 | rs6854584 | ATP10D | A>G | 1213 | 141795 | 18.66 | 1.56e-05 | 0.8744 |
| chr2:20645506 | rs2602160 | - | T>C | 2534 | 245120 | 18.61 | 1.603e-05 | 1.108 |
| chr6:29879379 | rs2524026 | - | C>A | 447 | 38135 | 18.58 | 1.629e-05 | 1.234 |
| chr2:131809436 | rs3814393 | FAM168B | A>T | 790 | 71000 | 18.56 | 1.646e-05 | 1.175 |
| chr12:86177763 | rs4131243 | - | G>A | 725 | 87752 | 18.17 | 2.016e-05 | 0.8472 |
| chr9:124371628 | rs118115974 | DAB2IP | G>A | 402 | 33979 | 18.13 | 2.065e-05 | 1.244 |
| chr5:56273400 | rs7736675 | - | C>T | 1643 | 188246 | 18.12 | 2.072e-05 | 0.8896 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:226352498 | rs2306120 | ACBD3 | G>T | 3216 | 15022 | 22.9 | 1.709e-06 | 0.8882 |
| chr4:103188709 | rs13107325 | SLC39A8 | C>T | 580 | 3117 | 22.24 | 2.401e-06 | 0.8024 |
| chr10:132328772 | rs11017314 | - | G>A | 2052 | 8113 | 21.83 | 2.979e-06 | 1.139 |
| chr6:151900930 | rs75067782 | CCDC170 | G>A | 788 | 2891 | 21.18 | 4.173e-06 | 1.213 |
| chr10:49977285 | rs34923764 | WDFY4 | T>C | 2317 | 9264 | 20.67 | 5.448e-06 | 1.129 |
| chr6:138463769 | rs79884014 | - | A>G | 398 | 1356 | 20.49 | 5.995e-06 | 1.301 |
| chr13:61276558 | rs17803331 | - | A>G | 359 | 1207 | 20.26 | 6.749e-06 | 1.316 |
| chr2:20645506 | rs2602160 | - | T>C | 2630 | 10596 | 20.2 | 6.977e-06 | 1.122 |
| chr18:60037406 | rs114941408 | TNFRSF11A | T>G | 93 | 662 | 19.79 | 8.647e-06 | 0.6123 |
| chr9:28211487 | rs117828793 | LINGO2 | C>T | 248 | 1466 | 19.77 | 8.746e-06 | 0.7345 |
| chr1:87866437 | rs35117523 | - | C>T | 143 | 413 | 19.16 | 1.202e-05 | 1.529 |
| chr18:46617886 | rs78651134 | DYM | G>A | 134 | 382 | 18.91 | 1.369e-05 | 1.547 |
| chr2:6799048 | rs13427729 | - | T>C | 3580 | 16628 | 18.67 | 1.552e-05 | 0.9027 |
| chr18:11688979 | rs8087266 | - | G>A | 2109 | 10084 | 18.6 | 1.613e-05 | 0.888 |
| chr13:37942699 | rs17055416 | - | C>T | 407 | 2235 | 18.52 | 1.678e-05 | 0.789 |
| chr1:109242056 | rs111751551 | PRPF38B | G>A | 59 | 460 | 17.92 | 2.308e-05 | 0.5603 |
| chr10:49985110 | rs10857636 | WDFY4 | C>T | 420 | 2281 | 17.38 | 3.068e-05 | 0.7975 |
| chr2:46576242 | rs35706639 | EPAS1 | A>G | 1868 | 7434 | 17.37 | 3.072e-05 | 1.128 |
| chr23:41248388 | rs112780869 | - | T>C | 868 | 3354 | 17.3 | 3.188e-05 | 1.184 |
| chr12:75469103 | rs4019544 | KCNC2 | C>T | 1698 | 6724 | 17.14 | 3.474e-05 | 1.132 |
| chr4:103188709 | rs13107325 | SLC39A8 | C>T | 574 | 3069 | 23.73 | 1.107e-06 | 0.7953 |
| chr2:6799048 | rs13427729 | - | T>C | 3397 | 15660 | 21.07 | 4.419e-06 | 0.8943 |
| chr10:132328772 | rs11017314 | - | G>A | 1935 | 7555 | 20.56 | 5.774e-06 | 1.139 |
| chr1:109242056 | rs111751551 | PRPF38B | G>A | 56 | 450 | 19.78 | 8.684e-06 | 0.5366 |
| chr9:28211487 | rs117828793 | LINGO2 | C>T | 247 | 1441 | 19.61 | 9.482e-06 | 0.7346 |
| chr13:61276558 | rs17803331 | - | A>G | 350 | 1166 | 19.15 | 1.206e-05 | 1.312 |
| chr18:46617886 | rs78651134 | DYM | G>A | 134 | 376 | 19.14 | 1.217e-05 | 1.552 |
| chr2:20645506 | rs2602160 | - | T>C | 2534 | 10091 | 19.1 | 1.243e-05 | 1.122 |
| chr4:81054790 | rs28714684 | - | T>C | 572 | 2021 | 18.85 | 1.414e-05 | 1.236 |
| chr15:98207100 | rs58617509 | - | C>T | 898 | 3326 | 18.85 | 1.416e-05 | 1.188 |
| chr12:4726068 | rs11063261 | AC005832.4 | A>G | 1496 | 5769 | 18.73 | 1.506e-05 | 1.147 |
| chr12:4735969 | rs67512580 | AC005832.4 | GA>G | 1228 | 4668 | 18.5 | 1.7e-05 | 1.16 |
| chr16:81760707 | rs12446982 | - | G>T | 4283 | 17562 | 18.45 | 1.744e-05 | 1.107 |
| chr4:92113737 | rs114694736 | CCSER1 | T>C | 199 | 611 | 18.19 | 1.996e-05 | 1.419 |
| chr1:226352498 | rs2306120 | ACBD3 | G>T | 3031 | 13888 | 18.02 | 2.183e-05 | 0.8975 |
| chr9:13279498 | rs9696523 | MPDZ | A>G | 125 | 350 | 17.9 | 2.326e-05 | 1.553 |
| chr6:151900930 | rs75067782 | CCDC170 | G>A | 772 | 2833 | 17.87 | 2.369e-05 | 1.196 |
| chr6:138463769 | rs79884014 | - | A>G | 388 | 1324 | 17.83 | 2.417e-05 | 1.282 |
| chr5:18334297 | rs12516356 | - | C>G | 715 | 2610 | 17.73 | 2.547e-05 | 1.203 |
| chr9:113832044 | rs4475574 | - | A>G | 3688 | 15019 | 17.66 | 2.645e-05 | 1.107 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: D180 | Haemangioma, any site | 1/20 |