Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 71 | ||
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs752742313 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 36 | ||
rs1136201 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 34 | ||
rs17577 | 0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 | 31 | ||
rs28934571 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 31 | |||
rs2234767 | 0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 | 30 | ||
rs11887534 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 29 | ||
rs2250889 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 24 | ||
rs743572 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 24 | ||
rs3824260 | 0.742 | 0.160 | 8 | 58500631 | upstream gene variant | A/G;T | snv | 11 | |||
rs4148217 | 0.790 | 0.280 | 2 | 43872294 | missense variant | C/A;T | snv | 0.21; 1.2E-05 | 11 | ||
rs6557634 | 0.763 | 0.080 | 8 | 23202743 | missense variant | T/C | snv | 11 | |||
rs2303426 | 0.790 | 0.080 | 2 | 47403411 | intron variant | C/A;G;T | snv | 1.9E-05; 0.47 | 8 | ||
rs1169803481 | 0.807 | 0.160 | 7 | 55198851 | missense variant | A/G | snv | 4.0E-06 | 7 | ||
rs4595552 | 0.790 | 0.080 | 11 | 125865825 | intergenic variant | C/G;T | snv | 7 | |||
rs775066324 | 0.790 | 0.080 | 17 | 78855710 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 7 | ||
rs779162432 | 0.790 | 0.080 | 2 | 169637315 | missense variant | A/G | snv | 4.1E-06 | 7 | ||
rs909629195 | 0.790 | 0.080 | 17 | 38914448 | missense variant | C/T | snv | 7 | |||
rs951540403 | 0.790 | 0.080 | 10 | 94132433 | missense variant | G/C | snv | 7 |