Statistics
| Case | Control |
|---|---|
| 41189 | 419005 |
Phenotype Definition
Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. [HPO:probinson]
Phenotype Comment
The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr11:44843134 | rs11038167 | TSPAN18 | A>C | 710 | 9739 | 59.61 | 1.158e-14 | 0.7406 |
| chr4:100239319 | rs1229984 | ADH1B | C>T | 2356 | 28120 | 56.22 | 6.465e-14 | 0.8497 |
| chr2:26113913 | rs78404020 | - | A>G | 986 | 12831 | 56.06 | 7.02e-14 | 0.7802 |
| chr3:181586376 | rs10937067 | - | G>A | 965 | 12561 | 54.64 | 1.444e-13 | 0.7806 |
| chr9:88022795 | rs80250277 | - | T>C | 3609 | 41454 | 50.34 | 1.293e-12 | 0.8819 |
| chr1:54009583 | rs41363049 | GLIS1 | C>T | 937 | 12062 | 48.37 | 3.533e-12 | 0.7893 |
| chr6:93667780 | rs9363020 | - | G>A | 856 | 11135 | 48.24 | 3.763e-12 | 0.7812 |
| chr14:34703938 | rs7141321 | EGLN3 | T>C | 1079 | 13667 | 48.19 | 3.869e-12 | 0.8021 |
| chr15:93585096 | rs74245341 | RGMA | C>A | 1650 | 20013 | 47.57 | 5.315e-12 | 0.8368 |
| chr1:169510139 | rs13306334 | F5 | G>A | 828 | 10780 | 46.96 | 7.251e-12 | 0.7806 |
| chr11:131336074 | rs992564 | NTM | G>T | 3909 | 44461 | 45.46 | 1.56e-11 | 0.8913 |
| chr2:153221906 | rs16830986 | FMNL2 | A>G | 1206 | 14956 | 43.99 | 3.296e-11 | 0.819 |
| chr13:74144529 | rs9573252 | - | C>G | 1609 | 19435 | 43.92 | 3.413e-11 | 0.8408 |
| chr1:29783282 | rs6676357 | - | T>C | 711 | 9343 | 43.37 | 4.533e-11 | 0.7737 |
| chr16:57099443 | rs79141761 | NLRC5 | G>A | 823 | 10596 | 42.37 | 7.545e-11 | 0.7897 |
| chr1:9660299 | rs60097082 | TMEM201 | A>G | 1194 | 14767 | 42.22 | 8.166e-11 | 0.8216 |
| chr23:130397166 | rs6634819 | - | G>A | 5146 | 58181 | 41.91 | 9.558e-11 | 0.9066 |
| chr9:87887178 | rs2031823 | - | T>G | 1284 | 15743 | 41.51 | 1.174e-10 | 0.8285 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 2161 | 25365 | 41.02 | 1.509e-10 | 0.8648 |
| chr6:26189615 | rs806977 | - | A>G | 41095 | 428915 | 40.74 | 1.74e-10 | 0.9556 |
| chr7:114223723 | rs1229761 | FOXP2 | A>C | 26832 | 282284 | 41.66 | 1.084e-10 | 0.951 |
| chr7:114210814 | rs17137124 | FOXP2 | C>T | 35293 | 367858 | 32.61 | 1.126e-08 | 0.9587 |
| chr4:112503872 | rs11729080 | - | G>A | 13409 | 142966 | 31.57 | 1.921e-08 | 0.946 |
| chr1:201884952 | rs2819348 | LMOD1 | T>C | 29776 | 294732 | 30.69 | 3.029e-08 | 1.043 |
| chr7:114015707 | rs12705960 | FOXP2 | A>C | 40772 | 406360 | 30.31 | 3.684e-08 | 1.041 |
| chr8:10436353 | rs11993892 | - | A>C | 19403 | 190233 | 30.21 | 3.876e-08 | 1.049 |
| chr6:25918225 | rs80215559 | SLC17A2 | T>C | 6635 | 63060 | 29.93 | 4.476e-08 | 1.076 |
| chr6:396321 | rs12203592 | IRF4 | C>T | 18417 | 180498 | 29.04 | 7.097e-08 | 1.049 |
| chr16:69545513 | rs9922520 | - | G>A | 26319 | 275432 | 28.77 | 8.156e-08 | 0.9589 |
| chr1:201860626 | rs2250377 | SHISA4 | G>A | 28302 | 280378 | 28.45 | 9.635e-08 | 1.042 |
| chr10:8776296 | rs17144411 | - | G>T | 15932 | 155756 | 28.24 | 1.072e-07 | 1.05 |
| chr10:107763659 | rs61875573 | - | T>C | 19539 | 205712 | 28.02 | 1.204e-07 | 0.9556 |
| chr11:113417603 | rs12222458 | - | T>C | 33746 | 351257 | 27.45 | 1.613e-07 | 0.9618 |
| chr6:26189615 | rs806977 | - | A>G | 37599 | 390501 | 27.41 | 1.644e-07 | 0.9623 |
| chr1:201869257 | rs2820312 | LMOD1 | G>A | 28496 | 282257 | 27.29 | 1.755e-07 | 1.041 |
| chr4:60278718 | rs1397813 | - | G>A | 10231 | 109411 | 26.98 | 2.053e-07 | 0.9442 |
| chr5:123568579 | rs17151451 | - | G>A | 15205 | 148618 | 26.92 | 2.124e-07 | 1.05 |
| chr6:25488583 | rs2274089 | CARMIL1 | C>T | 8437 | 81134 | 26.76 | 2.299e-07 | 1.064 |
| chr9:136478355 | rs3025343 | - | G>A | 9872 | 95398 | 26.74 | 2.327e-07 | 1.06 |
| chr3:130933845 | rs7639065 | NEK11 | A>G | 39752 | 396476 | 26.6 | 2.507e-07 | 1.038 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr9:88022795 | rs80250277 | - | T>C | 3609 | 3796 | 34.28 | 4.778e-09 | 0.8701 |
| chr1:54009583 | rs41363049 | GLIS1 | C>T | 937 | 1090 | 27.8 | 1.347e-07 | 0.79 |
| chr2:153221906 | rs16830986 | FMNL2 | A>G | 1206 | 1354 | 25.44 | 4.555e-07 | 0.818 |
| chr23:12186040 | rs6640922 | FRMPD4 | A>G | 2009 | 2154 | 25.21 | 5.133e-07 | 0.8537 |
| chr6:32665728 | rs9275312 | - | A>G | 11068 | 10864 | 24.93 | 5.953e-07 | 0.9302 |
| chr7:1088192 | rs73048380 | C7orf50 | A>G | 2874 | 2310 | 24.91 | 5.998e-07 | 1.152 |
| chr7:1195692 | rs73033340 | ZFAND2A | A>G | 2806 | 2255 | 24.34 | 8.072e-07 | 1.152 |
| chr6:100252564 | rs17053885 | - | G>A | 1057 | 1196 | 23.98 | 9.731e-07 | 0.8124 |
| chr23:91661384 | rs147066277 | PCDH11X | A>G | 4214 | 4296 | 23.8 | 1.071e-06 | 0.8963 |
| chr10:56298422 | rs1219792 | PCDH15 | T>C | 19874 | 19135 | 23.78 | 1.081e-06 | 0.9451 |
| chr6:32628189 | rs9273489 | HLA-DQB1 | A>G | 10558 | 10356 | 23.7 | 1.127e-06 | 0.9306 |
| chr6:32667343 | rs9275338 | - | A>T | 10754 | 10541 | 23.43 | 1.296e-06 | 0.9314 |
| chr23:130397166 | rs6634819 | - | G>A | 5146 | 5183 | 23.32 | 1.374e-06 | 0.9056 |
| chr1:65858151 | rs11208644 | DNAJC6 | C>T | 2152 | 2286 | 22.99 | 1.626e-06 | 0.8643 |
| chr23:109820068 | rs1573036 | - | C>T | 26272 | 23409 | 22.23 | 2.416e-06 | 1.056 |
| chr5:75829759 | rs80233413 | IQGAP2 | C>T | 2968 | 3080 | 22.16 | 2.513e-06 | 0.884 |
| chr23:109786110 | rs12013156 | - | C>A | 26781 | 23869 | 22.11 | 2.58e-06 | 1.055 |
| chr11:131336074 | rs992564 | NTM | G>T | 3909 | 3994 | 22.09 | 2.603e-06 | 0.8974 |
| chr5:75843577 | rs873787 | IQGAP2 | G>A | 2748 | 2863 | 21.83 | 2.979e-06 | 0.8809 |
| chr3:94251976 | rs116343244 | - | T>C | 6151 | 5210 | 21.59 | 3.372e-06 | 1.095 |
| chr6:32665728 | rs9275312 | - | A>G | 10387 | 10190 | 25.64 | 4.108e-07 | 0.9271 |
| chr6:32628189 | rs9273489 | HLA-DQB1 | A>G | 10005 | 9816 | 24.91 | 5.997e-07 | 0.927 |
| chr6:32667343 | rs9275338 | - | A>T | 10108 | 9883 | 22.79 | 1.807e-06 | 0.9303 |
| chr10:33593822 | rs11597915 | NRP1 | A>G | 38457 | 36230 | 21.78 | 3.061e-06 | 0.954 |
| chr7:1088192 | rs73048380 | C7orf50 | A>G | 2819 | 2280 | 21.18 | 4.187e-06 | 1.141 |
| chr1:162033890 | rs12143842 | - | C>T | 20838 | 18380 | 21.08 | 4.406e-06 | 1.055 |
| chr4:30077431 | rs12503551 | - | G>A | 10118 | 8730 | 21.07 | 4.431e-06 | 1.074 |
| chr1:162014632 | rs2880058 | - | A>G | 27958 | 24854 | 20.99 | 4.615e-06 | 1.05 |
| chr7:1195692 | rs73033340 | ZFAND2A | A>G | 2757 | 2228 | 20.98 | 4.649e-06 | 1.142 |
| chr9:6193455 | rs2381416 | - | A>C | 21638 | 20653 | 20.97 | 4.676e-06 | 0.9493 |
| chr6:32668632 | rs9275375 | - | G>A | 20063 | 19181 | 20.81 | 5.064e-06 | 0.9482 |
| chr6:32669084 | rs9275388 | - | T>C | 20047 | 19160 | 20.73 | 5.287e-06 | 0.9483 |
| chr6:32671596 | rs9275440 | - | C>T | 20035 | 19161 | 20.68 | 5.436e-06 | 0.9484 |
| chr6:32668296 | rs9275371 | - | T>C | 19822 | 18942 | 20.63 | 5.578e-06 | 0.9482 |
| chr6:32670037 | rs9275407 | - | G>T | 19994 | 19098 | 20.46 | 6.09e-06 | 0.9486 |
| chr8:35408949 | rs2978405 | UNC5D | G>A | 10243 | 9988 | 20.44 | 6.166e-06 | 0.9342 |
| chr6:32670244 | rs9275418 | - | A>G | 20108 | 19206 | 20.31 | 6.598e-06 | 0.9489 |
| chr6:32669712 | rs9275399 | - | A>G | 19700 | 18832 | 20.27 | 6.727e-06 | 0.9486 |
| chr23:109786110 | rs12013156 | - | C>A | 25232 | 22359 | 20.16 | 7.11e-06 | 1.055 |
| chr9:6192796 | rs2095044 | - | C>T | 21074 | 20103 | 19.95 | 7.933e-06 | 0.9501 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: F101 | Harmful use | 2/20 |
| ICD: F103 | Withdrawal state | 1/20 |
| ICD: F121 | Harmful use | 1/20 |
| ICD: M159 | Polyarthrosis, unspecified | 1/20 |