Statistics
| Case | Control |
|---|---|
| 1936 | 458258 |
Phenotype Definition
A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts. [PMID:22966823]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr6:31245534 | rs10456057 | HLA-B | A>G | 639 | 118462 | 44.24 | 2.901e-11 | 1.331 |
| chr6:31274555 | rs10484554 | HLA-B | C>T | 640 | 118902 | 43.94 | 3.385e-11 | 1.33 |
| chr15:50785016 | rs148783236 | USP8 | A>G | 639 | 118921 | 43.54 | 4.151e-11 | 1.328 |
| chr6:31244082 | rs13203895 | HLA-B | C>T | 641 | 119352 | 43.36 | 4.553e-11 | 1.327 |
| chr6:31299466 | rs17192757 | HLA-B | G>A | 678 | 128016 | 41.82 | 9.998e-11 | 1.312 |
| chr6:31242731 | rs12199223 | HLA-B | T>A | 467 | 84135 | 40.24 | 2.251e-10 | 1.366 |
| chr6:31252925 | rs12191877 | HLA-B | C>T | 623 | 117088 | 39.8 | 2.81e-10 | 1.316 |
| chr6:31316699 | rs28732138 | HLA-B | G>A | 482 | 87175 | 39.4 | 3.449e-10 | 1.355 |
| chr6:31236201 | rs12207404 | - | G>A | 609 | 114054 | 38.34 | 5.947e-10 | 1.313 |
| chr6:31240932 | rs13218306 | HLA-B | C>A | 663 | 126279 | 37.2 | 1.066e-09 | 1.295 |
| chr6:31001177 | rs28732080 | MUC22 | T>C | 326 | 55807 | 37.18 | 1.076e-09 | 1.421 |
| chr6:31001143 | rs13210132 | MUC22 | A>G | 326 | 55834 | 37.14 | 1.1e-09 | 1.421 |
| chr6:31289714 | rs28894993 | HLA-B | G>T | 482 | 88086 | 36.46 | 1.555e-09 | 1.34 |
| chr6:31240771 | rs13203722 | HLA-B | T>C | 660 | 126131 | 36.15 | 1.831e-09 | 1.291 |
| chr6:31263216 | rs9468929 | HLA-B | G>A | 658 | 125446 | 36.04 | 1.937e-09 | 1.291 |
| chr6:31251924 | rs12189871 | HLA-B | C>T | 476 | 87415 | 34.93 | 3.425e-09 | 1.334 |
| chr6:31267618 | rs9380238 | HLA-B | A>G | 661 | 126926 | 34.89 | 3.493e-09 | 1.285 |
| chr6:31002343 | rs28732081 | MUC22 | C>A | 306 | 52401 | 34.64 | 3.965e-09 | 1.418 |
| chr6:31004521 | rs28732082 | - | G>A | 352 | 61932 | 33.83 | 6e-09 | 1.382 |
| chr6:31391401 | rs4418214 | - | T>C | 408 | 74002 | 33.65 | 6.606e-09 | 1.354 |
| chr6:31245534 | rs10456057 | HLA-B | A>G | 601 | 110874 | 41.89 | 9.666e-11 | 1.332 |
| chr6:31274555 | rs10484554 | HLA-B | C>T | 602 | 111323 | 41.53 | 1.161e-10 | 1.331 |
| chr15:50785016 | rs148783236 | USP8 | A>G | 601 | 111294 | 41.27 | 1.327e-10 | 1.33 |
| chr6:31244082 | rs13203895 | HLA-B | C>T | 601 | 111286 | 41.12 | 1.429e-10 | 1.329 |
| chr6:31299466 | rs17192757 | HLA-B | G>A | 635 | 119207 | 39.63 | 3.077e-10 | 1.314 |
| chr6:31240932 | rs13218306 | HLA-B | C>A | 620 | 116598 | 37.52 | 9.028e-10 | 1.308 |
| chr6:31236201 | rs12207404 | - | G>A | 573 | 106445 | 37.11 | 1.117e-09 | 1.318 |
| chr6:31252925 | rs12191877 | HLA-B | C>T | 585 | 109678 | 37.02 | 1.167e-09 | 1.314 |
| chr6:31240771 | rs13203722 | HLA-B | T>C | 617 | 116442 | 36.28 | 1.706e-09 | 1.303 |
| chr6:31391401 | rs4418214 | - | T>C | 391 | 70266 | 33.61 | 6.731e-09 | 1.362 |
| chr6:31001143 | rs13210132 | MUC22 | A>G | 308 | 52926 | 33.55 | 6.951e-09 | 1.41 |
| chr6:31001177 | rs28732080 | MUC22 | T>C | 308 | 52913 | 33.55 | 6.948e-09 | 1.41 |
| chr6:31316699 | rs28732138 | HLA-B | G>A | 449 | 81899 | 33.43 | 7.387e-09 | 1.337 |
| chr6:31242731 | rs12199223 | HLA-B | T>A | 433 | 78990 | 33.13 | 8.607e-09 | 1.342 |
| chr6:31263216 | rs9468929 | HLA-B | G>A | 608 | 115668 | 32.72 | 1.064e-08 | 1.288 |
| chr6:31004521 | rs28732082 | - | G>A | 330 | 57828 | 31.71 | 1.79e-08 | 1.382 |
| chr6:31003701 | rs28894977 | - | T>C | 328 | 57458 | 31.39 | 2.108e-08 | 1.382 |
| chr6:31289714 | rs28894993 | HLA-B | G>T | 449 | 82775 | 30.73 | 2.959e-08 | 1.321 |
| chr6:31267618 | rs9380238 | HLA-B | A>G | 611 | 117555 | 30.3 | 3.706e-08 | 1.275 |
| chr6:31095003 | rs6931921 | PSORS1C1 | G>C | 465 | 86477 | 29.93 | 4.479e-08 | 1.31 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: M0730 | Other psoriatic arthropathies (Multiple sites) | 1/20 |
| ICD: M0739 | Other psoriatic arthropathies (Site unspecified) | 14/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: K076 | Temporomandibular joint disorders | 0/20 |
| ICD-10: K108 | Other specified diseases of jaws | 0/20 |
| ICD-10: M200 | Deformity of finger(s) | 0/20 |