Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs121434569 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 70 | |
rs2227983 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 31 | ||
rs1273593548 | 0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 | 19 | ||
rs961150162 | 7 | 55198779 | missense variant | G/A;C | snv | 3 | |||||
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs1443465532 | 0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 6 | |
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 58 | |
rs1285136498 | 0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv | 13 | |||
rs1057519710 | 0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv | 22 | |||
rs969139366 | 4 | 54277974 | missense variant | T/C | snv | 3.5E-05 | 3 | ||||
rs10009228 | 4 | 40354405 | missense variant | A/G | snv | 0.78 | 0.76 | 1 | |||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs752021744 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 29 | ||
rs104893626 | 0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv | 11 | |||
rs4987188 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 11 | ||
rs17217772 | 0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 | 10 | ||
rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs773862672 | 0.882 | 0.280 | 1 | 11247922 | missense variant | G/A;C | snv | 1.2E-05 | 6 | ||
rs438034 | 0.882 | 0.120 | 1 | 214657274 | stop gained | A/G;T | snv | 0.61 | 4 | ||
rs762807774 | 1.000 | 0.040 | 1 | 1228495 | frameshift variant | CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC | delins | 7.0E-06 | 2 |