Statistics
| Case | Control |
|---|---|
| 1620 | 458574 |
Phenotype Definition
Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints. [PMID:28058540]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr9:27341338 | rs7041639 | MOB3B | A>G | 428 | 96820 | 23.78 | 1.077e-06 | 1.286 |
| chr1:12751429 | rs72644525 | - | C>T | 145 | 27636 | 23.53 | 1.229e-06 | 1.507 |
| chr5:166812293 | rs72829329 | TENM2 | G>C | 108 | 19659 | 21.73 | 3.14e-06 | 1.573 |
| chr16:17416916 | rs76179402 | XYLT1 | T>C | 218 | 45506 | 20.8 | 5.087e-06 | 1.375 |
| chr5:23580987 | rs4591711 | - | C>T | 765 | 186768 | 20.45 | 6.115e-06 | 1.204 |
| chr4:162645525 | rs6834937 | FSTL5 | T>C | 119 | 22509 | 19.95 | 7.953e-06 | 1.514 |
| chr9:138243967 | rs72764620 | - | G>A | 245 | 52594 | 19.88 | 8.232e-06 | 1.343 |
| chr20:15428410 | rs74594035 | MACROD2 | T>C | 220 | 46424 | 19.83 | 8.449e-06 | 1.363 |
| chr2:73842055 | rs6546859 | ALMS1 | C>A | 947 | 235878 | 19.76 | 8.795e-06 | 1.185 |
| chr18:41867582 | rs17769286 | - | G>C | 353 | 124214 | 19.49 | 1.009e-05 | 0.7805 |
| chr1:82869627 | rs12144783 | - | G>A | 520 | 122631 | 19.39 | 1.065e-05 | 1.233 |
| chr5:82071045 | rs62819763 | - | T>C | 1194 | 373400 | 19.08 | 1.251e-05 | 0.8549 |
| chr3:60456745 | rs473944 | FHIT | T>C | 1164 | 364011 | 18.93 | 1.353e-05 | 0.8547 |
| chr20:15402870 | rs76758320 | MACROD2 | A>G | 171 | 35004 | 18.52 | 1.686e-05 | 1.4 |
| chr6:114736654 | rs72958237 | - | C>T | 80 | 14147 | 18.27 | 1.92e-05 | 1.616 |
| chr23:121785751 | rs140235636 | - | G>A | 54 | 27915 | 18.25 | 1.942e-05 | 0.5599 |
| chr2:223072493 | rs142331296 | PAX3 | A>G | 89 | 16137 | 18.23 | 1.957e-05 | 1.578 |
| chr5:96702380 | rs11135509 | - | T>C | 1791 | 471073 | 18.17 | 2.019e-05 | 1.157 |
| chr1:14452337 | rs74391512 | KAZN | A>G | 225 | 48189 | 18.16 | 2.035e-05 | 1.341 |
| chr5:96578141 | rs13162261 | - | A>G | 1762 | 463189 | 18.08 | 2.113e-05 | 1.157 |
| chr9:27341338 | rs7041639 | MOB3B | A>G | 388 | 86008 | 25.68 | 4.038e-07 | 1.315 |
| chr1:82869627 | rs12144783 | - | G>A | 507 | 117709 | 22.58 | 2.019e-06 | 1.258 |
| chr2:222992451 | rs142693203 | - | G>A | 92 | 16460 | 20.44 | 6.168e-06 | 1.608 |
| chr2:223072493 | rs142331296 | PAX3 | A>G | 89 | 15736 | 20.42 | 6.215e-06 | 1.62 |
| chr1:12751429 | rs72644525 | - | C>T | 138 | 26822 | 20.33 | 6.513e-06 | 1.478 |
| chr1:82847334 | rs3901465 | - | T>G | 423 | 97456 | 20.31 | 6.602e-06 | 1.265 |
| chr20:15428410 | rs74594035 | MACROD2 | T>C | 214 | 44866 | 20.3 | 6.63e-06 | 1.375 |
| chr1:14452337 | rs74391512 | KAZN | A>G | 224 | 47284 | 20.17 | 7.089e-06 | 1.364 |
| chr16:17416916 | rs76179402 | XYLT1 | T>C | 214 | 44829 | 20.12 | 7.285e-06 | 1.373 |
| chr18:41867582 | rs17769286 | - | G>C | 341 | 120895 | 20.11 | 7.303e-06 | 0.7738 |
| chr5:166812293 | rs72829329 | TENM2 | G>C | 104 | 19166 | 19.86 | 8.317e-06 | 1.556 |
| chr7:117514840 | rs6965740 | - | G>T | 1349 | 417115 | 19.44 | 1.04e-05 | 0.8544 |
| chr3:60456745 | rs473944 | FHIT | T>C | 1052 | 331511 | 19.42 | 1.047e-05 | 0.8474 |
| chr7:41436977 | rs58974745 | - | C>T | 118 | 22450 | 19.29 | 1.12e-05 | 1.507 |
| chr9:138243967 | rs72764620 | - | G>A | 240 | 51721 | 19.1 | 1.24e-05 | 1.34 |
| chr20:15402870 | rs76758320 | MACROD2 | A>G | 168 | 34157 | 19.09 | 1.246e-05 | 1.412 |
| chr6:114736654 | rs72958237 | - | C>T | 80 | 14024 | 19.04 | 1.278e-05 | 1.633 |
| chr5:140817231 | rs10035418 | PCDHGA1 | A>G | 586 | 194475 | 18.98 | 1.322e-05 | 0.8197 |
| chr16:5596301 | rs7196311 | RBFOX1 | C>A | 76 | 13190 | 18.81 | 1.447e-05 | 1.648 |
| chr5:31799138 | rs72755477 | PDZD2 | T>C | 368 | 83936 | 18.68 | 1.542e-05 | 1.27 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr7:41436977 | rs58974745 | - | C>T | 140 | 327 | 25.05 | 5.579e-07 | 1.665 |
| chr5:82071045 | rs62819763 | - | T>C | 1194 | 5172 | 24.31 | 8.189e-07 | 0.8209 |
| chr1:12751429 | rs72644525 | - | C>T | 145 | 346 | 24.0 | 9.647e-07 | 1.631 |
| chr6:11238023 | rs55813531 | NEDD9 | A>G | 1019 | 3356 | 23.19 | 1.466e-06 | 1.226 |
| chr3:65015822 | rs11706761 | - | T>G | 101 | 630 | 22.26 | 2.382e-06 | 0.6012 |
| chr5:96565280 | rs17630655 | - | A>G | 1716 | 5962 | 21.82 | 2.991e-06 | 1.196 |
| chr5:96578141 | rs13162261 | - | A>G | 1762 | 6170 | 21.73 | 3.137e-06 | 1.197 |
| chr5:96702380 | rs11135509 | - | T>C | 1791 | 6265 | 21.48 | 3.582e-06 | 1.195 |
| chr4:162645525 | rs6834937 | FSTL5 | T>C | 119 | 277 | 21.45 | 3.636e-06 | 1.666 |
| chr9:27341338 | rs7041639 | MOB3B | A>G | 428 | 1282 | 21.35 | 3.826e-06 | 1.315 |
| chr5:96611829 | rs1845658 | - | G>T | 1712 | 5969 | 21.2 | 4.146e-06 | 1.193 |
| chr10:91109633 | rs6586189 | LIPA | T>C | 88 | 188 | 21.11 | 4.337e-06 | 1.807 |
| chr3:124846256 | rs9868033 | SLC12A8 | T>C | 76 | 156 | 20.7 | 5.362e-06 | 1.882 |
| chr17:54107288 | rs17819601 | ANKFN1 | G>A | 98 | 218 | 20.69 | 5.4e-06 | 1.739 |
| chr6:165512254 | rs11970297 | - | T>C | 126 | 301 | 20.42 | 6.233e-06 | 1.621 |
| chr10:91109254 | rs6586187 | LIPA | A>G | 62 | 119 | 20.24 | 6.821e-06 | 2.006 |
| chr23:28276729 | rs7882528 | - | C>T | 208 | 572 | 20.08 | 7.422e-06 | 1.456 |
| chr17:32700924 | rs159290 | - | A>G | 1370 | 5801 | 19.97 | 7.873e-06 | 0.8399 |
| chr5:96623059 | rs2697550 | - | A>C | 1719 | 6005 | 19.85 | 8.394e-06 | 1.186 |
| chr18:67346440 | rs12604978 | DOK6 | A>C | 1529 | 6408 | 19.56 | 9.748e-06 | 0.8434 |
| chr3:65015822 | rs11706761 | - | T>G | 96 | 625 | 24.11 | 9.109e-07 | 0.5821 |
| chr1:12751429 | rs72644525 | - | C>T | 138 | 332 | 23.34 | 1.355e-06 | 1.639 |
| chr6:11238023 | rs55813531 | NEDD9 | A>G | 961 | 3194 | 22.92 | 1.689e-06 | 1.232 |
| chr5:82071045 | rs62819763 | - | T>C | 1139 | 4976 | 21.84 | 2.956e-06 | 0.8253 |
| chr7:41436977 | rs58974745 | - | C>T | 118 | 278 | 21.45 | 3.625e-06 | 1.669 |
| chr9:27341338 | rs7041639 | MOB3B | A>G | 388 | 1167 | 20.64 | 5.535e-06 | 1.326 |
| chr2:78760166 | rs74350601 | - | G>T | 145 | 829 | 20.27 | 6.713e-06 | 0.6618 |
| chr1:169015430 | rs79107137 | - | C>T | 234 | 651 | 20.08 | 7.439e-06 | 1.422 |
| chr11:70001711 | rs17423765 | ANO1 | C>A | 486 | 1512 | 19.92 | 8.071e-06 | 1.285 |
| chr5:96702380 | rs11135509 | - | T>C | 1671 | 5921 | 19.87 | 8.285e-06 | 1.192 |
| chr13:115095646 | rs117820393 | CHAMP1 | G>A | 83 | 181 | 19.49 | 1.01e-05 | 1.793 |
| chr5:96578141 | rs13162261 | - | A>G | 1628 | 5793 | 18.67 | 1.551e-05 | 1.187 |
| chr17:77759691 | rs11653768 | CBX2 | A>G | 405 | 1244 | 18.66 | 1.559e-05 | 1.302 |
| chr16:90027626 | rs8063761 | DEF8 | A>T | 1066 | 4633 | 18.59 | 1.618e-05 | 0.8354 |
| chr17:48124547 | rs57554498 | - | T>C | 470 | 1470 | 18.54 | 1.66e-05 | 1.278 |
| chr7:117514840 | rs6965740 | - | G>T | 1349 | 5748 | 18.44 | 1.757e-05 | 0.8425 |
| chr2:124149040 | rs12612473 | - | C>T | 50 | 93 | 18.34 | 1.849e-05 | 2.094 |
| chr2:127705567 | rs17014704 | - | C>T | 189 | 510 | 18.24 | 1.944e-05 | 1.452 |
| chr5:96565280 | rs17630655 | - | A>G | 1581 | 5581 | 18.23 | 1.954e-05 | 1.184 |
| chr17:32700797 | rs17574949 | - | A>G | 622 | 2016 | 18.14 | 2.057e-05 | 1.241 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: J984 | Other disorders of lung | 7/20 |
| ID | Name | Top Correlation |
|---|