Statistics
| Case | Control |
|---|---|
| 3817 | 456377 |
Phenotype Definition
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. [HPO:probinson]
Phenotype Comment
Rigidity is often a manifestation of basal ganglia diseases.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr1:159174683 | rs2814778 | ACKR1 | T>C | 480 | 18897 | 591.8 | 1.025e-130 | 3.007 |
| chr8:145639681 | rs1871534 | SLC39A4 | G>C | 439 | 17706 | 515.0 | 5.226e-114 | 2.926 |
| chr6:136480972 | rs9483910 | PDE7B | C>T | 480 | 20890 | 481.2 | 1.155e-106 | 2.719 |
| chr1:207782889 | rs17047661 | CR1 | A>G | 359 | 13960 | 451.4 | 3.537e-100 | 3.015 |
| chr3:188327555 | rs7645635 | LPP | T>C | 358 | 14018 | 444.0 | 1.428e-98 | 2.994 |
| chr17:58508582 | rs8071181 | C17orf64 | G>A | 375 | 15042 | 443.1 | 2.283e-98 | 2.925 |
| chr8:10557760 | rs57041981 | RP1L1 | A>G | 394 | 16254 | 440.8 | 7.318e-98 | 2.851 |
| chr12:56722060 | rs1918496 | PAN2 | G>T | 305 | 11312 | 420.7 | 1.722e-93 | 3.152 |
| chr12:56755058 | rs4301822 | APOF | A>G | 321 | 12291 | 416.0 | 1.828e-92 | 3.055 |
| chr16:29790864 | rs235636 | ZG16 | A>G | 324 | 12497 | 413.2 | 7.542e-92 | 3.03 |
| chr9:117110112 | Affx-52344420 | AKNA | T>TG | 352 | 14227 | 409.0 | 6.154e-91 | 2.897 |
| chr1:173579034 | rs12065033 | AL139142.2 | C>T | 364 | 14977 | 408.5 | 7.756e-91 | 2.85 |
| chr15:45556163 | rs8023604 | SLC28A2 | T>C | 323 | 12588 | 404.1 | 7.2e-90 | 3.0 |
| chr10:114925758 | rs1056877 | TCF7L2 | T>C | 314 | 12137 | 400.0 | 5.38e-89 | 3.027 |
| chr2:66725070 | rs12995572 | MEIS1 | G>C | 536 | 26615 | 394.0 | 1.105e-87 | 2.38 |
| chr15:45491394 | rs1648299 | SHF | T>C | 386 | 16773 | 384.4 | 1.339e-85 | 2.696 |
| chr6:137344363 | rs1744080 | IL20RA | G>A | 377 | 16233 | 383.8 | 1.841e-85 | 2.723 |
| chr23:64367019 | rs7064929 | - | G>A | 372 | 17194 | 379.3 | 1.766e-84 | 2.744 |
| chr15:48426484 | rs1426654 | SLC24A5 | A>G | 535 | 26991 | 378.6 | 2.552e-84 | 2.343 |
| chr15:45695612 | rs1346265 | SPATA5L1 | C>T | 295 | 11375 | 376.2 | 8.309e-84 | 3.025 |
| chr3:87590636 | rs1509776 | - | A>C | 2929 | 376432 | 25.3 | 4.91e-07 | 0.8879 |
| chr11:11251907 | rs11021714 | - | A>G | 1687 | 222803 | 22.46 | 2.151e-06 | 0.8771 |
| chr7:8333426 | rs112528232 | - | G>C | 299 | 27317 | 22.18 | 2.485e-06 | 1.321 |
| chr1:20183342 | rs6690967 | - | C>T | 3855 | 436464 | 21.61 | 3.337e-06 | 1.113 |
| chr5:96118866 | rs17482078 | ERAP1 | C>T | 1517 | 200939 | 20.14 | 7.198e-06 | 0.8788 |
| chr1:2513216 | rs734999 | - | C>T | 3450 | 436097 | 19.97 | 7.875e-06 | 0.9019 |
| chr5:171586242 | rs6555999 | STK10 | G>A | 3328 | 375447 | 19.33 | 1.1e-05 | 1.107 |
| chr5:171584982 | rs11134732 | STK10 | T>A | 3309 | 373888 | 19.23 | 1.159e-05 | 1.107 |
| chr10:31476487 | rs1764436 | - | G>A | 2565 | 328692 | 18.9 | 1.379e-05 | 0.8996 |
| chr11:42306765 | rs7939393 | - | C>T | 232 | 20900 | 18.87 | 1.401e-05 | 1.337 |
| chr5:96122210 | rs10050860 | ERAP1 | C>T | 1587 | 208810 | 18.73 | 1.504e-05 | 0.8847 |
| chr2:4823625 | rs9646941 | - | T>C | 2698 | 301619 | 18.45 | 1.743e-05 | 1.109 |
| chr5:151059738 | rs17112187 | SPARC | C>A | 508 | 50410 | 18.41 | 1.783e-05 | 1.219 |
| chr13:47537149 | rs1328671 | - | T>C | 2357 | 303238 | 18.37 | 1.82e-05 | 0.8989 |
| chr21:37968894 | rs2835399 | - | G>A | 3230 | 364243 | 18.36 | 1.831e-05 | 1.105 |
| chr1:242690382 | rs2810011 | - | C>A | 2956 | 375221 | 18.35 | 1.836e-05 | 0.9038 |
| chr11:36310897 | Affx-52325364 | COMMD9 | A>AC | 222 | 19940 | 18.34 | 1.844e-05 | 1.34 |
| chr18:27120760 | rs74606050 | - | C>T | 247 | 22543 | 18.3 | 1.89e-05 | 1.32 |
| chr2:2153489 | rs10427173 | MYT1L | A>C | 612 | 61815 | 18.29 | 1.894e-05 | 1.198 |
| chr4:164012901 | rs11100479 | - | T>C | 1853 | 202945 | 18.2 | 1.993e-05 | 1.121 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr3:87590636 | rs1509776 | - | A>C | 2929 | 55666 | 25.62 | 4.147e-07 | 0.8847 |
| chr7:8333426 | rs112528232 | - | G>C | 299 | 4027 | 21.01 | 4.581e-06 | 1.322 |
| chr5:151059738 | rs17112187 | SPARC | C>A | 508 | 7306 | 20.87 | 4.913e-06 | 1.242 |
| chr5:171586242 | rs6555999 | STK10 | G>A | 3328 | 55190 | 20.86 | 4.948e-06 | 1.115 |
| chr11:11251907 | rs11021714 | - | A>G | 1687 | 32821 | 20.82 | 5.051e-06 | 0.8789 |
| chr1:2513216 | rs734999 | - | C>T | 3450 | 64515 | 20.72 | 5.328e-06 | 0.8979 |
| chr20:24665361 | rs112222172 | - | C>A | 456 | 9923 | 20.68 | 5.421e-06 | 0.7991 |
| chr5:171584982 | rs11134732 | STK10 | T>A | 3309 | 54982 | 20.51 | 5.936e-06 | 1.114 |
| chr1:20183342 | rs6690967 | - | C>T | 3855 | 64438 | 20.11 | 7.293e-06 | 1.111 |
| chr18:26874260 | rs78877575 | - | A>G | 272 | 3656 | 19.46 | 1.028e-05 | 1.325 |
| chr5:99511172 | rs7730800 | - | G>A | 816 | 12391 | 19.37 | 1.077e-05 | 1.183 |
| chr21:37968894 | rs2835399 | - | G>A | 3230 | 53609 | 19.0 | 1.304e-05 | 1.11 |
| chr2:2153489 | rs10427173 | MYT1L | A>C | 612 | 9056 | 18.87 | 1.4e-05 | 1.208 |
| chr1:2488153 | rs4870 | TNFRSF14 | A>G | 3464 | 64658 | 18.51 | 1.692e-05 | 0.9029 |
| chr18:27120760 | rs74606050 | - | C>T | 247 | 3296 | 18.42 | 1.774e-05 | 1.332 |
| chr13:47537149 | rs1328671 | - | T>C | 2357 | 44818 | 18.37 | 1.819e-05 | 0.8967 |
| chr1:113190255 | rs116602397 | CAPZA1 | C>T | 185 | 2367 | 18.19 | 2.002e-05 | 1.388 |
| chr13:31105403 | rs58355267 | HMGB1 | C>T | 1079 | 16815 | 18.08 | 2.122e-05 | 1.155 |
| chr1:242690382 | rs2810011 | - | C>A | 2956 | 55427 | 18.01 | 2.199e-05 | 0.9026 |
| chr15:99799380 | rs80214911 | LRRC28 | A>G | 697 | 10489 | 17.99 | 2.219e-05 | 1.19 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: B509 | Plasmodium falciparum malaria, unspecified | 13/20 |
| ICD: F200 | Paranoid schizophrenia | 10/20 |