Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1057519369 | 0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins | 13 | |||
rs866419664 | 0.882 | 0.040 | 17 | 7673821 | frameshift variant | -/TCCCA | delins | 5 | |||
rs71305152 | 0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 | 5 | ||
rs6010620 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 21 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121918465 | 0.827 | 0.200 | 12 | 112450407 | missense variant | A/C;G;T | snv | 7 | |||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs1801275 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 58 | |
rs2071559 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 26 | ||
rs6089953 | 0.882 | 0.080 | 20 | 63659655 | intron variant | A/G | snv | 0.82 | 3 | ||
rs12594 | 0.925 | 0.040 | 1 | 237833787 | 3 prime UTR variant | A/G | snv | 0.28 | 2 | ||
rs1057519903 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 28 | |||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 96 | ||
rs55819519 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 40 | |
rs2305948 | 0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 | 18 | ||
rs281865545 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 18 | |||
rs371409680 | 0.790 | 0.120 | 17 | 7673772 | missense variant | C/G;T | snv | 4.0E-05 | 7.0E-06 | 10 | |
rs1057519897 | 0.807 | 0.240 | 8 | 38414788 | missense variant | C/G;T | snv | 4.0E-06 | 6 | ||
rs2378456 | 0.807 | 0.200 | 3 | 188885218 | 3 prime UTR variant | C/G;T | snv | 6 | |||
rs751857027 | 0.925 | 0.120 | 19 | 10707507 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06 | 2 | ||
rs118101777 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 42 | |
rs16835904 | 0.925 | 0.040 | 1 | 237833954 | 3 prime UTR variant | C/T | snv | 0.17 | 2 |