Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
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 | |||
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 51 | |||
rs2853676 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 29 | |||
rs1057519903 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 28 | |||
rs2071559 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 26 | ||
rs121918464 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 25 | |||
rs6010620 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 21 | |||
rs281865545 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 18 | |||
rs55832599 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 18 | |||
rs869320694 | 0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv | 16 | |||
rs1057519369 | 0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins | 13 | |||
rs2297440 | 0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 | 10 | ||
rs121918465 | 0.827 | 0.200 | 12 | 112450407 | missense variant | A/C;G;T | snv | 7 | |||
rs4809324 | 0.807 | 0.200 | 20 | 63686867 | non coding transcript exon variant | T/C | snv | 8.8E-02 | 7 | ||
rs5050 | 0.827 | 0.200 | 1 | 230714140 | intron variant | T/C;G | snv | 7 | |||
rs2378456 | 0.807 | 0.200 | 3 | 188885218 | 3 prime UTR variant | C/G;T | snv | 6 | |||
rs9288516 | 0.827 | 0.120 | 2 | 216188541 | intron variant | T/A | snv | 5.0E-02 | 6 | ||
rs1057519898 | 0.851 | 0.120 | 8 | 38417333 | missense variant | T/C | snv | 5 | |||
rs1057519899 | 0.851 | 0.120 | 8 | 38417879 | missense variant | T/C | snv | 5 | |||
rs17522122 | 0.925 | 0.040 | 14 | 32833676 | 3 prime UTR variant | G/T | snv | 0.41 | 5 | ||
rs2271338 | 0.827 | 0.080 | 4 | 61996533 | intron variant | G/A | snv | 0.26 | 5 | ||
rs71305152 | 0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 | 5 | ||
rs866419664 | 0.882 | 0.040 | 17 | 7673821 | frameshift variant | -/TCCCA | delins | 5 |