Statistics
| Case | Control |
|---|---|
| 63106 | 397088 |
Phenotype Definition
An abnormality of one or more of the vertebrae. [HPO:probinson]
Phenotype Comment
A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone).
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr6:93645908 | rs77956657 | - | T>C | 1783 | 13543 | 55.52 | 9.244e-14 | 0.828 |
| chr3:49899795 | rs3796386 | CAMKV | G>A | 56846 | 349591 | 51.88 | 5.9e-13 | 1.044 |
| chr7:5494487 | rs72577283 | FBXL18 | T>C | 1472 | 11303 | 51.36 | 7.673e-13 | 0.8192 |
| chr7:22713217 | rs2961304 | STEAP1B | C>T | 6641 | 45862 | 50.33 | 1.301e-12 | 0.9089 |
| chr6:93667780 | rs9363020 | - | G>A | 1380 | 10611 | 48.69 | 3.005e-12 | 0.8184 |
| chr3:49949071 | rs868891 | MON1A | A>G | 57021 | 351093 | 48.27 | 3.71e-12 | 1.042 |
| chr4:129618472 | rs6842121 | - | G>T | 1413 | 10815 | 47.7 | 4.967e-12 | 0.8219 |
| chr9:91202260 | rs4433238 | - | G>A | 3686 | 26197 | 47.68 | 5.019e-12 | 0.8841 |
| chr2:16797659 | rs12615415 | CYRIA | C>T | 2490 | 18155 | 47.52 | 5.434e-12 | 0.8619 |
| chr3:181586376 | rs10937067 | - | G>A | 1580 | 11946 | 46.69 | 8.324e-12 | 0.8321 |
| chr3:50153356 | rs1138536 | RBM5 | C>T | 57869 | 356556 | 46.65 | 8.484e-12 | 1.041 |
| chr2:108088349 | rs2377892 | - | G>A | 1641 | 12353 | 46.21 | 1.063e-11 | 0.8357 |
| chr1:155253495 | rs11264351 | HCN3 | G>A | 2341 | 17108 | 45.89 | 1.253e-11 | 0.8603 |
| chr3:50108792 | rs3774734 | RBM6 | A>C | 59018 | 363952 | 45.54 | 1.497e-11 | 1.041 |
| chr3:50144951 | rs1061474 | RBM5 | C>T | 57838 | 356437 | 45.11 | 1.863e-11 | 1.041 |
| chr7:88963039 | rs1916830 | ZNF804B | G>A | 1185 | 9164 | 44.46 | 2.595e-11 | 0.8135 |
| chr2:173168867 | rs3934991 | - | G>A | 2724 | 19650 | 44.38 | 2.71e-11 | 0.8715 |
| chr12:70732745 | rs79482870 | CNOT2 | T>G | 1980 | 14601 | 43.53 | 4.178e-11 | 0.853 |
| chr8:37379389 | rs57007325 | - | G>A | 1377 | 10464 | 42.99 | 5.498e-11 | 0.828 |
| chr7:14634585 | rs79087229 | DGKB | G>A | 1509 | 11357 | 42.34 | 7.675e-11 | 0.836 |
| chr3:49899795 | rs3796386 | CAMKV | G>A | 54763 | 336598 | 44.24 | 2.904e-11 | 1.042 |
| chr3:49949071 | rs868891 | MON1A | A>G | 55195 | 339663 | 41.15 | 1.409e-10 | 1.04 |
| chr3:50153356 | rs1138536 | RBM5 | C>T | 56006 | 345028 | 38.35 | 5.899e-10 | 1.039 |
| chr3:50108792 | rs3774734 | RBM6 | A>C | 57144 | 352275 | 37.8 | 7.822e-10 | 1.038 |
| chr4:25408838 | rs34811474 | ANAPC4 | G>A | 28265 | 184021 | 37.41 | 9.574e-10 | 0.9566 |
| chr3:50144951 | rs1061474 | RBM5 | C>T | 55976 | 344920 | 36.72 | 1.365e-09 | 1.038 |
| chr6:44449697 | rs12154055 | - | G>A | 47682 | 306818 | 33.42 | 7.431e-09 | 0.9645 |
| chr4:151199080 | rs2290846 | LRBA | G>A | 37041 | 226821 | 33.06 | 8.927e-09 | 1.039 |
| chr3:156444383 | rs237250 | - | T>C | 55480 | 355789 | 30.59 | 3.188e-08 | 0.9667 |
| chr3:49902544 | rs9821675 | CAMKV | A>G | 64377 | 398473 | 30.1 | 4.113e-08 | 1.034 |
| chr6:149429579 | rs6927215 | - | G>A | 26957 | 164432 | 28.72 | 8.353e-08 | 1.041 |
| chr3:49936102 | rs2230590 | MST1R | C>T | 60057 | 384218 | 27.97 | 1.23e-07 | 0.9684 |
| chr2:27274073 | rs72808941 | AGBL5 | G>A | 5085 | 34580 | 27.84 | 1.319e-07 | 0.9223 |
| chr7:114015707 | rs12705960 | FOXP2 | A>C | 62169 | 384963 | 27.33 | 1.713e-07 | 1.032 |
| chr2:27173314 | rs72804880 | - | G>A | 5161 | 35011 | 26.89 | 2.155e-07 | 0.9241 |
| chr3:51436991 | rs17668146 | DCAF1 | A>G | 4681 | 27172 | 26.88 | 2.162e-07 | 1.087 |
| chr3:156506124 | rs34354387 | - | A>C | 30591 | 197869 | 26.34 | 2.87e-07 | 0.9644 |
| chr3:49924940 | rs1062633 | MST1R | C>T | 59822 | 382437 | 26.32 | 2.892e-07 | 0.9693 |
| chr22:50728062 | rs28379706 | PLXNB2 | T>C | 50209 | 309982 | 26.29 | 2.939e-07 | 1.032 |
| chr3:49941436 | rs2280406 | - | G>A | 64667 | 400709 | 26.12 | 3.202e-07 | 1.031 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr17:77239897 | rs11656929 | RBFOX3 | G>A | 9412 | 4940 | 24.51 | 7.381e-07 | 0.9134 |
| chr12:103125690 | rs2172873 | - | G>A | 5409 | 2329 | 22.27 | 2.364e-06 | 1.127 |
| chr17:5724815 | rs7215980 | AC007846.2 | C>T | 2686 | 1500 | 21.03 | 4.524e-06 | 0.8612 |
| chr3:51471446 | rs17547726 | DCAF1 | T>C | 3774 | 1594 | 20.62 | 5.59e-06 | 1.147 |
| chr1:47211238 | rs648028 | - | G>C | 1819 | 1042 | 19.79 | 8.624e-06 | 0.8403 |
| chr7:131870544 | rs56211734 | PLXNA4 | C>T | 13766 | 7062 | 19.65 | 9.323e-06 | 0.9334 |
| chr19:46387344 | rs11550348 | IRF2BP1 | G>A | 15328 | 7835 | 19.51 | 1e-05 | 0.9365 |
| chr12:6754191 | rs7959658 | ACRBP | A>G | 44986 | 22342 | 19.48 | 1.014e-05 | 0.9557 |
| chr9:78745177 | rs7035578 | PCSK5 | G>A | 19406 | 9849 | 19.17 | 1.195e-05 | 0.9426 |
| chr17:54675452 | rs1442828 | - | C>T | 46731 | 21932 | 18.96 | 1.334e-05 | 1.046 |
| chr3:163738165 | rs12634664 | - | A>G | 33340 | 16667 | 18.77 | 1.471e-05 | 0.953 |
| chr3:51436991 | rs17668146 | DCAF1 | A>G | 4681 | 2017 | 18.77 | 1.475e-05 | 1.125 |
| chr6:2848558 | rs964976 | - | A>G | 21779 | 10021 | 18.77 | 1.475e-05 | 1.059 |
| chr4:88687755 | rs2627713 | - | G>T | 39117 | 19492 | 18.68 | 1.55e-05 | 0.955 |
| chr4:48602472 | rs1507863 | FRYL | G>C | 2179 | 888 | 18.66 | 1.56e-05 | 1.189 |
| chr16:1997004 | rs113956264 | RPL3L | C>T | 3592 | 1952 | 18.42 | 1.776e-05 | 0.8847 |
| chr6:75808390 | rs860569 | COL12A1 | C>T | 13257 | 6800 | 18.32 | 1.87e-05 | 0.9346 |
| chr3:50721022 | rs56142306 | DOCK3 | G>A | 3688 | 1569 | 18.18 | 2.005e-05 | 1.139 |
| chr3:182334215 | rs4859236 | - | C>A | 12855 | 6596 | 18.17 | 2.022e-05 | 0.934 |
| chr2:27173314 | rs72804880 | - | G>A | 5161 | 2747 | 18.1 | 2.097e-05 | 0.9024 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: M159 | Polyarthrosis, unspecified | 1/20 |