Statistics
| Case | Control |
|---|---|
| 1168 | 459026 |
Phenotype Definition
A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. [HPO:probinson]
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr16:57987459 | rs117318343 | CNGB1 | G>A | 115 | 27203 | 33.32 | 7.814e-09 | 1.726 |
| chr11:67950788 | rs74996158 | KMT5B | A>G | 74 | 16455 | 26.42 | 2.743e-07 | 1.821 |
| chr15:77544526 | rs117802092 | PEAK1 | G>A | 61 | 13417 | 22.62 | 1.975e-06 | 1.838 |
| chr5:158242238 | rs6556366 | EBF1 | C>T | 234 | 69585 | 22.08 | 2.613e-06 | 1.38 |
| chr18:7625108 | rs118053477 | PTPRM | T>C | 58 | 12675 | 22.02 | 2.695e-06 | 1.85 |
| chr15:79069120 | rs146326084 | ADAMTS7 | C>T | 52 | 11120 | 21.74 | 3.121e-06 | 1.904 |
| chr9:36209002 | rs117775044 | CLTA | G>A | 51 | 10806 | 21.44 | 3.655e-06 | 1.907 |
| chr11:13181725 | rs117711831 | - | C>T | 52 | 11081 | 21.44 | 3.649e-06 | 1.896 |
| chr19:1555551 | rs2277752 | MEX3D | T>C | 361 | 114982 | 21.37 | 3.782e-06 | 1.301 |
| chr4:96555910 | rs1865852 | - | G>T | 954 | 427747 | 21.34 | 3.852e-06 | 0.8252 |
| chr10:23288059 | rs72812465 | ARMC3 | T>C | 297 | 93176 | 20.9 | 4.842e-06 | 1.327 |
| chr4:96593811 | rs10013217 | - | A>C | 874 | 392076 | 20.26 | 6.772e-06 | 0.8267 |
| chr1:223180044 | rs41370845 | - | A>G | 49 | 10536 | 19.55 | 9.798e-06 | 1.876 |
| chr5:158417109 | rs12515233 | EBF1 | A>C | 503 | 168735 | 19.39 | 1.068e-05 | 1.247 |
| chr3:187942700 | rs74698002 | LPP | A>G | 93 | 57698 | 19.29 | 1.125e-05 | 0.6309 |
| chr5:16821309 | rs115174164 | MYO10 | A>G | 82 | 20345 | 19.24 | 1.154e-05 | 1.631 |
| chr6:29528318 | rs362513 | GABBR1 | A>G | 1229 | 447639 | 19.17 | 1.194e-05 | 1.194 |
| chr21:22781651 | rs73232070 | NCAM2 | C>T | 67 | 15873 | 19.16 | 1.203e-05 | 1.711 |
| chr11:13156014 | rs117344772 | - | C>T | 101 | 26330 | 19.13 | 1.223e-05 | 1.555 |
| chr8:14374327 | rs7821766 | SGCZ | C>G | 189 | 55474 | 19.03 | 1.284e-05 | 1.39 |
| chr16:57987459 | rs117318343 | CNGB1 | G>A | 113 | 26744 | 30.55 | 3.246e-08 | 1.696 |
| chr11:67950788 | rs74996158 | KMT5B | A>G | 74 | 16221 | 26.16 | 3.136e-07 | 1.816 |
| chr15:77544526 | rs117802092 | PEAK1 | G>A | 61 | 12993 | 23.8 | 1.071e-06 | 1.867 |
| chr12:131650270 | rs73470877 | - | C>T | 73 | 16628 | 22.73 | 1.863e-06 | 1.752 |
| chr15:79069120 | rs146326084 | ADAMTS7 | C>T | 51 | 10787 | 20.94 | 4.745e-06 | 1.894 |
| chr18:7625108 | rs118053477 | PTPRM | T>C | 57 | 12383 | 20.83 | 5.03e-06 | 1.83 |
| chr3:66657461 | rs73833204 | - | C>T | 111 | 28643 | 20.62 | 5.604e-06 | 1.551 |
| chr2:12108100 | rs2581064 | - | C>T | 258 | 131301 | 20.27 | 6.738e-06 | 0.7435 |
| chr11:13181725 | rs117711831 | - | C>T | 51 | 10809 | 20.17 | 7.079e-06 | 1.872 |
| chr19:1555551 | rs2277752 | MEX3D | T>C | 345 | 108201 | 20.1 | 7.333e-06 | 1.299 |
| chr9:36209002 | rs117775044 | CLTA | G>A | 50 | 10613 | 19.69 | 9.116e-06 | 1.869 |
| chr11:13156014 | rs117344772 | - | C>T | 100 | 25525 | 19.29 | 1.121e-05 | 1.562 |
| chr1:167364205 | rs12724217 | POU2F1 | A>G | 68 | 15911 | 19.12 | 1.23e-05 | 1.704 |
| chr8:29334781 | rs13281506 | - | T>G | 712 | 243705 | 19.05 | 1.271e-05 | 1.217 |
| chr23:151538546 | rs138169663 | GABRA3 | T>C | 66 | 13482 | 18.95 | 1.34e-05 | 1.715 |
| chr1:223180044 | rs41370845 | - | A>G | 48 | 10180 | 18.93 | 1.358e-05 | 1.87 |
| chr5:16821309 | rs115174164 | MYO10 | A>G | 80 | 19593 | 18.49 | 1.707e-05 | 1.625 |
| chr11:38288593 | rs11034653 | - | C>T | 28 | 4988 | 18.48 | 1.719e-05 | 2.222 |
| chr2:74802965 | rs72818091 | M1AP | C>T | 139 | 38293 | 18.35 | 1.843e-05 | 1.452 |
| chr1:162956847 | rs77145762 | - | C>T | 51 | 11169 | 18.06 | 2.138e-05 | 1.812 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr12:131650270 | rs73470877 | - | C>T | 73 | 105 | 24.71 | 6.662e-07 | 2.118 |
| chr1:15332359 | rs74682864 | KAZN | C>T | 46 | 58 | 20.53 | 5.879e-06 | 2.397 |
| chr16:2717079 | rs56036921 | - | C>A | 23 | 177 | 19.93 | 8.024e-06 | 0.3832 |
| chr12:129603556 | rs117018491 | TMEM132D | T>C | 214 | 454 | 19.76 | 8.764e-06 | 1.468 |
| chr16:17591947 | rs78115692 | - | A>G | 59 | 86 | 19.13 | 1.221e-05 | 2.078 |
| chr2:208439118 | rs3770704 | CREB1 | A>G | 50 | 68 | 18.99 | 1.314e-05 | 2.221 |
| chr4:46316391 | rs77166883 | GABRA2 | T>C | 49 | 66 | 18.99 | 1.311e-05 | 2.242 |
| chr16:57987459 | rs117318343 | CNGB1 | G>A | 113 | 207 | 18.66 | 1.56e-05 | 1.667 |
| chr12:63070497 | rs432794 | PPM1H | G>A | 110 | 505 | 18.57 | 1.64e-05 | 0.6293 |
| chr14:95918741 | rs4905319 | SYNE3 | G>A | 1072 | 2859 | 18.56 | 1.646e-05 | 1.231 |
| chr5:126116445 | rs62391735 | LMNB1 | A>G | 198 | 814 | 18.52 | 1.683e-05 | 0.7003 |
| chr21:22781651 | rs73232070 | NCAM2 | C>T | 66 | 102 | 18.49 | 1.709e-05 | 1.964 |
| chr2:83833280 | rs114318387 | - | T>C | 86 | 416 | 18.46 | 1.731e-05 | 0.5974 |
| chr9:8783029 | rs34498033 | PTPRD | C>G | 1109 | 2970 | 17.9 | 2.323e-05 | 1.225 |
| chr8:134552834 | rs117199764 | ST3GAL1 | C>T | 35 | 41 | 17.85 | 2.386e-05 | 2.568 |
| chr13:23600969 | rs7993846 | - | A>G | 662 | 1678 | 17.63 | 2.677e-05 | 1.253 |
| chr2:87794553 | rs6749017 | - | C>T | 17 | 12 | 17.52 | 2.841e-05 | 4.272 |
| chr7:16387893 | rs74439935 | CRPPA | T>C | 76 | 126 | 17.34 | 3.124e-05 | 1.83 |
| chr5:158242238 | rs6556366 | EBF1 | C>T | 226 | 491 | 17.27 | 3.241e-05 | 1.417 |
| chr2:86332241 | rs11677119 | POLR1A | G>A | 48 | 67 | 17.21 | 3.347e-05 | 2.165 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: N601 | Diffuse cystic mastopathy | 2/20 |
| ID | Name | Top Correlation |
|---|---|---|
| ICD-10: D333 | Cranial nerves | 0/20 |