Aplasia/hypoplasia affecting bones of the axial skeleton
0009122
Normal Case/Contol ⓘ
Sibling Case/Control ⓘ
Statistics
| Case | Control |
|---|---|
| 3387 | 456807 |
Phenotype Definition
Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr23:44103971 | rs73483015 | EFHC2 | C>T | 113 | 9673 | 24.51 | 7.387e-07 | 1.598 |
| chr14:49063187 | rs17120305 | - | G>A | 1743 | 210645 | 23.03 | 1.598e-06 | 1.142 |
| chr18:58551314 | rs72996548 | - | G>A | 392 | 66133 | 22.98 | 1.636e-06 | 0.7795 |
| chr15:63666420 | rs7162383 | CA12 | A>C | 376 | 39869 | 20.97 | 4.674e-06 | 1.275 |
| chr7:62535226 | rs13247356 | - | T>C | 2297 | 283307 | 20.94 | 4.732e-06 | 1.123 |
| chr18:58802459 | rs78713836 | - | A>G | 380 | 63651 | 20.9 | 4.847e-06 | 0.7858 |
| chr14:55604935 | rs4644 | LGALS3 | C>A | 2750 | 393296 | 20.84 | 4.995e-06 | 0.895 |
| chr11:19284671 | rs78466241 | - | C>G | 214 | 21057 | 20.61 | 5.627e-06 | 1.371 |
| chr8:66235381 | rs7830803 | - | T>G | 602 | 67391 | 20.38 | 6.344e-06 | 1.213 |
| chr1:15663384 | rs2496331 | FHAD1 | A>G | 627 | 70540 | 19.8 | 8.594e-06 | 1.205 |
| chr12:47237069 | rs11183630 | - | A>G | 3785 | 480465 | 19.57 | 9.704e-06 | 1.11 |
| chr14:21556963 | rs71417002 | ARHGEF40 | AT>A | 1778 | 216814 | 19.44 | 1.038e-05 | 1.128 |
| chr4:56737489 | rs73238378 | EXOC1 | G>A | 1051 | 123702 | 19.36 | 1.08e-05 | 1.159 |
| chr14:55619311 | rs15870 | DLGAP5 | A>G | 2738 | 391643 | 19.17 | 1.198e-05 | 0.8987 |
| chr7:26666345 | rs17288737 | - | A>G | 1319 | 196684 | 19.12 | 1.228e-05 | 0.875 |
| chr4:112851332 | rs17527538 | - | C>T | 1301 | 193949 | 19.0 | 1.307e-05 | 0.8748 |
| chr21:37664372 | rs9977791 | DOP1B | C>T | 2157 | 266388 | 18.63 | 1.588e-05 | 1.118 |
| chr5:149540628 | rs79720920 | - | C>T | 512 | 56982 | 18.32 | 1.866e-05 | 1.217 |
| chr12:94293315 | rs12579440 | - | G>C | 3081 | 436723 | 18.27 | 1.919e-05 | 0.903 |
| chr1:30117517 | rs692787 | - | G>A | 915 | 139436 | 18.17 | 2.016e-05 | 0.8597 |
| chr7:62535226 | rs13247356 | - | T>C | 2190 | 270198 | 24.54 | 7.293e-07 | 1.138 |
| chr4:56737489 | rs73238378 | EXOC1 | G>A | 973 | 113131 | 24.29 | 8.302e-07 | 1.187 |
| chr11:19284671 | rs78466241 | - | C>G | 206 | 20016 | 22.76 | 1.834e-06 | 1.402 |
| chr18:58551314 | rs72996548 | - | G>A | 380 | 64656 | 22.25 | 2.397e-06 | 0.7794 |
| chr14:55619311 | rs15870 | DLGAP5 | A>G | 2561 | 371768 | 21.7 | 3.193e-06 | 0.8891 |
| chr14:55604935 | rs4644 | LGALS3 | C>A | 2596 | 375779 | 21.6 | 3.358e-06 | 0.89 |
| chr14:55614636 | rs2274273 | - | G>A | 2608 | 376374 | 20.36 | 6.417e-06 | 0.8931 |
| chr5:149540628 | rs79720920 | - | C>T | 487 | 54007 | 19.83 | 8.467e-06 | 1.234 |
| chr18:58802459 | rs78713836 | - | A>G | 371 | 62372 | 19.48 | 1.018e-05 | 0.7899 |
| chr7:26666345 | rs17288737 | - | A>G | 1263 | 190561 | 19.35 | 1.088e-05 | 0.8714 |
| chr14:49063187 | rs17120305 | - | G>A | 1604 | 196459 | 19.29 | 1.12e-05 | 1.134 |
| chr14:21556963 | rs71417002 | ARHGEF40 | AT>A | 1610 | 197184 | 19.12 | 1.228e-05 | 1.134 |
| chr16:3765035 | rs72760814 | TRAP1 | C>A | 646 | 73940 | 19.09 | 1.249e-05 | 1.199 |
| chr11:17696529 | rs2336844 | - | T>G | 1391 | 207866 | 18.97 | 1.324e-05 | 0.8769 |
| chr1:9300729 | rs74676453 | H6PD | A>T | 177 | 17321 | 18.42 | 1.77e-05 | 1.387 |
| chr10:128374851 | rs2366868 | C10orf90 | G>T | 2312 | 289579 | 18.39 | 1.797e-05 | 1.117 |
| chr13:98269568 | rs9582151 | - | C>G | 625 | 71520 | 18.19 | 2.001e-05 | 1.197 |
| chr8:66235381 | rs7830803 | - | T>G | 505 | 56837 | 17.71 | 2.578e-05 | 1.216 |
| chr14:55817708 | rs10144418 | FBXO34 | T>C | 2657 | 381154 | 17.36 | 3.1e-05 | 0.9009 |
| chr15:101437751 | rs117330496 | ALDH1A3 | G>A | 125 | 11656 | 17.31 | 3.169e-05 | 1.456 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr15:63666420 | rs7162383 | CA12 | A>C | 376 | 15849 | 22.5 | 2.098e-06 | 1.289 |
| chr23:44103971 | rs73483015 | EFHC2 | C>T | 113 | 3977 | 22.36 | 2.264e-06 | 1.571 |
| chr14:49063187 | rs17120305 | - | G>A | 1743 | 84738 | 21.94 | 2.811e-06 | 1.139 |
| chr11:19284671 | rs78466241 | - | C>G | 214 | 8399 | 21.15 | 4.25e-06 | 1.38 |
| chr18:58551314 | rs72996548 | - | G>A | 392 | 26282 | 20.73 | 5.291e-06 | 0.7884 |
| chr8:66235381 | rs7830803 | - | T>G | 602 | 27027 | 20.39 | 6.321e-06 | 1.214 |
| chr4:56737489 | rs73238378 | EXOC1 | G>A | 1051 | 49500 | 20.24 | 6.821e-06 | 1.164 |
| chr7:26666345 | rs17288737 | - | A>G | 1319 | 79197 | 19.93 | 8.04e-06 | 0.8719 |
| chr14:21556963 | rs71417002 | ARHGEF40 | AT>A | 1778 | 86942 | 19.83 | 8.473e-06 | 1.131 |
| chr7:62535226 | rs13247356 | - | T>C | 2297 | 113988 | 19.75 | 8.804e-06 | 1.12 |
| chr18:58802459 | rs78713836 | - | A>G | 380 | 25380 | 19.42 | 1.049e-05 | 0.7918 |
| chr14:55604935 | rs4644 | LGALS3 | C>A | 2750 | 157591 | 19.33 | 1.101e-05 | 0.8982 |
| chr16:67397580 | rs9922085 | LRRC36 | G>C | 472 | 20820 | 18.77 | 1.472e-05 | 1.232 |
| chr12:94293315 | rs12579440 | - | G>C | 3081 | 175454 | 18.42 | 1.775e-05 | 0.9021 |
| chr4:112851332 | rs17527538 | - | C>T | 1301 | 77760 | 18.27 | 1.922e-05 | 0.8765 |
| chr2:87062509 | rs78820452 | CD8B | C>T | 1549 | 75370 | 18.18 | 2.007e-05 | 1.131 |
| chr1:15663384 | rs2496331 | FHAD1 | A>G | 627 | 28513 | 18.11 | 2.086e-05 | 1.197 |
| chr14:49051663 | rs7158554 | - | C>T | 611 | 27697 | 18.08 | 2.113e-05 | 1.199 |
| chr12:47237069 | rs11183630 | - | A>G | 3785 | 193294 | 17.93 | 2.297e-05 | 1.106 |
| chr3:930723 | rs11719570 | - | A>G | 3195 | 161968 | 17.91 | 2.317e-05 | 1.106 |
| chr4:56737489 | rs73238378 | EXOC1 | G>A | 973 | 45409 | 23.94 | 9.934e-07 | 1.187 |
| chr11:19284671 | rs78466241 | - | C>G | 206 | 7965 | 23.51 | 1.243e-06 | 1.413 |
| chr7:62535226 | rs13247356 | - | T>C | 2190 | 108636 | 23.23 | 1.435e-06 | 1.135 |
| chr14:55619311 | rs15870 | DLGAP5 | A>G | 2561 | 148902 | 20.3 | 6.616e-06 | 0.892 |
| chr14:55604935 | rs4644 | LGALS3 | C>A | 2596 | 150429 | 19.98 | 7.844e-06 | 0.8934 |
| chr18:58551314 | rs72996548 | - | G>A | 380 | 25627 | 19.73 | 8.915e-06 | 0.7899 |
| chr7:26666345 | rs17288737 | - | A>G | 1263 | 76550 | 19.58 | 9.631e-06 | 0.8701 |
| chr14:21556963 | rs71417002 | ARHGEF40 | AT>A | 1610 | 79021 | 19.4 | 1.059e-05 | 1.135 |
| chr11:17696529 | rs2336844 | - | T>G | 1391 | 83450 | 18.98 | 1.321e-05 | 0.8763 |
| chr14:55614636 | rs2274273 | - | G>A | 2608 | 150712 | 18.95 | 1.345e-05 | 0.8961 |
| chr1:9300729 | rs74676453 | H6PD | A>T | 177 | 6916 | 18.79 | 1.46e-05 | 1.395 |
| chr18:69846723 | rs75690219 | - | C>T | 698 | 32225 | 18.7 | 1.529e-05 | 1.191 |
| chr15:63666420 | rs7162383 | CA12 | A>C | 307 | 13034 | 18.46 | 1.738e-05 | 1.288 |
| chr22:26146432 | rs77180535 | MYO18B | T>G | 116 | 4220 | 18.3 | 1.884e-05 | 1.497 |
| chr16:3765035 | rs72760814 | TRAP1 | C>A | 646 | 29776 | 18.04 | 2.166e-05 | 1.194 |
| chr5:149540628 | rs79720920 | - | C>T | 487 | 21843 | 18.03 | 2.17e-05 | 1.223 |
| chr14:49063187 | rs17120305 | - | G>A | 1604 | 79072 | 17.87 | 2.361e-05 | 1.13 |
| chr18:58802459 | rs78713836 | - | A>G | 371 | 24811 | 17.8 | 2.457e-05 | 0.7973 |
| chr8:66235381 | rs7830803 | - | T>G | 505 | 22777 | 17.71 | 2.575e-05 | 1.217 |
| chr17:5822901 | rs1978385 | AC007846.2 | C>T | 727 | 45557 | 17.64 | 2.664e-05 | 0.847 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: M254 | Effusion of joint | 1/20 |