Case | Control |
---|---|
136764 | 323430 |
An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. [HPO:probinson]
Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
---|---|---|---|---|---|---|---|---|
chr15:48426484 | rs1426654 | SLC24A5 | A>G | 6816 | 20710 | 309.8 | 2.43e-69 | 0.7801 |
chr15:48392165 | rs1834640 | - | A>G | 8071 | 23553 | 252.9 | 6.183e-57 | 0.8123 |
chr5:33951693 | rs16891982 | SLC45A2 | G>C | 18120 | 48938 | 217.7 | 2.883e-49 | 0.8758 |
chr5:33958959 | rs28777 | SLC45A2 | A>C | 15322 | 41670 | 203.8 | 3.075e-46 | 0.8705 |
chr6:170242949 | rs9396958 | - | T>C | 3950 | 12164 | 198.2 | 5.101e-45 | 0.7718 |
chr2:211717706 | rs12995612 | - | C>G | 4049 | 12423 | 197.4 | 7.676e-45 | 0.7745 |
chr20:2315543 | rs6132532 | AL121899.2 | A>G | 13333 | 36201 | 171.3 | 3.8e-39 | 0.873 |
chr6:22050187 | rs1736507 | - | C>A | 3582 | 10931 | 167.3 | 2.949e-38 | 0.7788 |
chr2:235130071 | rs10177096 | - | A>G | 5425 | 15825 | 167.2 | 3.074e-38 | 0.8145 |
chr4:134694407 | rs6845289 | - | G>A | 2930 | 9090 | 155.5 | 1.113e-35 | 0.7668 |
chr1:200197167 | rs12029277 | - | T>C | 3255 | 9957 | 154.1 | 2.225e-35 | 0.7776 |
chr1:236085940 | rs12038310 | - | C>T | 3818 | 11458 | 153.7 | 2.648e-35 | 0.7923 |
chr15:73142636 | rs4777559 | - | C>T | 3753 | 11233 | 147.6 | 5.744e-34 | 0.7944 |
chr10:108672251 | rs1572457 | SORCS1 | C>T | 2865 | 8853 | 147.0 | 7.672e-34 | 0.77 |
chr13:72441665 | rs3759505 | - | C>T | 4227 | 12488 | 147.0 | 7.888e-34 | 0.8049 |
chr1:169519112 | rs6020 | F5 | C>T | 4480 | 13151 | 146.7 | 9.139e-34 | 0.8099 |
chr1:29783282 | rs6676357 | - | T>C | 2418 | 7636 | 146.7 | 9.284e-34 | 0.7535 |
chr6:93667780 | rs9363020 | - | G>A | 2942 | 9049 | 145.7 | 1.53e-33 | 0.7735 |
chr13:72463541 | rs1460465 | - | A>G | 4072 | 12052 | 143.9 | 3.74e-33 | 0.8036 |
chr2:3313043 | rs73133173 | EIPR1 | A>C | 3620 | 10843 | 142.7 | 6.918e-33 | 0.7943 |
chr3:49899795 | rs3796386 | CAMKV | G>A | 117979 | 273382 | 59.34 | 1.325e-14 | 1.036 |
chr3:50108792 | rs3774734 | RBM6 | A>C | 123329 | 286090 | 58.62 | 1.916e-14 | 1.036 |
chr3:50153356 | rs1138536 | RBM5 | C>T | 120844 | 280190 | 58.0 | 2.623e-14 | 1.036 |
chr3:50070763 | rs7621352 | RBM6 | A>C | 126160 | 303889 | 57.35 | 3.644e-14 | 0.9659 |
chr3:50144951 | rs1061474 | RBM5 | C>T | 120766 | 280130 | 55.64 | 8.692e-14 | 1.035 |
chr1:174736877 | rs1653636 | RABGAP1L | C>T | 76086 | 184802 | 53.83 | 2.181e-13 | 0.9634 |
chr3:49949071 | rs868891 | MON1A | A>G | 118918 | 275940 | 53.8 | 2.225e-13 | 1.034 |
chr3:50129399 | Affx-22412948 | RBM6 | C>T | 128772 | 309850 | 52.41 | 4.497e-13 | 0.9674 |
chr4:103188709 | rs13107325 | SLC39A8 | C>T | 21299 | 47565 | 52.16 | 5.122e-13 | 1.064 |
chr3:49902544 | rs9821675 | CAMKV | A>G | 139134 | 323716 | 52.11 | 5.24e-13 | 1.034 |
chr3:50174848 | rs7642934 | - | G>A | 128091 | 308330 | 51.88 | 5.914e-13 | 0.9676 |
chr3:49924940 | rs1062633 | MST1R | C>T | 129904 | 312355 | 50.6 | 1.131e-12 | 0.9679 |
chr3:49936102 | rs2230590 | MST1R | C>T | 130484 | 313791 | 50.21 | 1.383e-12 | 0.9681 |
chr3:50062878 | rs13071931 | RBM6 | G>A | 70456 | 162231 | 46.94 | 7.324e-12 | 1.036 |
chr3:50187790 | rs2526397 | - | G>T | 96882 | 224384 | 46.29 | 1.018e-11 | 1.033 |
chr3:50242387 | rs1858828 | - | G>T | 120986 | 281295 | 43.65 | 3.936e-11 | 1.031 |
chr11:28643913 | rs10835372 | - | T>C | 100257 | 241758 | 43.45 | 4.338e-11 | 0.9693 |
chr1:174737543 | rs72715300 | RABGAP1L | A>G | 67432 | 163663 | 43.07 | 5.291e-11 | 0.9659 |
chr3:49941436 | rs2280406 | - | G>A | 139723 | 325653 | 42.9 | 5.77e-11 | 1.03 |
chr1:174371209 | rs16846949 | RABGAP1L | A>G | 65367 | 158689 | 42.36 | 7.574e-11 | 0.9659 |
Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
---|---|---|---|---|---|---|---|---|
chr4:103188709 | rs13107325 | SLC39A8 | C>T | 21299 | 16403 | 25.79 | 3.811e-07 | 1.056 |
chr1:174736877 | rs1653636 | RABGAP1L | C>T | 76086 | 63079 | 25.25 | 5.035e-07 | 0.9686 |
chr3:50187790 | rs2526397 | - | G>T | 96882 | 76993 | 25.07 | 5.521e-07 | 1.03 |
chr13:111834031 | rs942653 | ARHGEF7 | A>G | 122059 | 100434 | 25.05 | 5.594e-07 | 0.9716 |
chr3:50070763 | rs7621352 | RBM6 | A>C | 126160 | 103740 | 23.9 | 1.014e-06 | 0.9724 |
chr16:53800954 | rs1421085 | FTO | T>C | 111217 | 88591 | 23.56 | 1.209e-06 | 1.029 |
chr3:50108792 | rs3774734 | RBM6 | A>C | 123329 | 98401 | 23.23 | 1.436e-06 | 1.028 |
chr3:122003757 | rs1801725 | CASR | G>T | 35190 | 29539 | 23.11 | 1.527e-06 | 0.9601 |
chr2:100090098 | rs2309604 | REV1 | A>G | 118245 | 94320 | 23.08 | 1.553e-06 | 1.028 |
chr16:52599188 | rs4784227 | - | C>T | 64995 | 53955 | 22.82 | 1.782e-06 | 0.9686 |
chr5:127548955 | rs36694 | - | A>C | 71493 | 56583 | 22.55 | 2.048e-06 | 1.032 |
chr3:49902544 | rs9821675 | CAMKV | A>G | 139134 | 111208 | 22.51 | 2.089e-06 | 1.028 |
chr3:50153356 | rs1138536 | RBM5 | C>T | 120844 | 96408 | 22.41 | 2.202e-06 | 1.028 |
chr17:70050274 | rs4793271 | - | T>C | 98372 | 78271 | 22.31 | 2.318e-06 | 1.029 |
chr3:49899795 | rs3796386 | CAMKV | G>A | 117979 | 94089 | 22.27 | 2.366e-06 | 1.028 |
chr19:46382745 | rs28678581 | - | T>C | 49207 | 41021 | 22.09 | 2.596e-06 | 0.9658 |
chr1:76278916 | rs67432875 | MSH4 | A>G | 40707 | 31929 | 21.86 | 2.937e-06 | 1.039 |
chr5:127552590 | rs2546147 | - | A>G | 71827 | 56886 | 21.86 | 2.927e-06 | 1.031 |
chr3:50144951 | rs1061474 | RBM5 | C>T | 120766 | 96363 | 21.75 | 3.107e-06 | 1.027 |
chr19:13900981 | rs57398315 | - | G>A | 55055 | 43441 | 21.41 | 3.708e-06 | 1.034 |