Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199469705 | 0.925 | 0.200 | 19 | 14564841 | missense variant | C/T | snv | 3 | |||
rs10410239 | 1.000 | 0.200 | 19 | 13919876 | synonymous variant | T/C | snv | 0.27 | 0.38 | 2 | |
rs6511901 | 1.000 | 0.200 | 19 | 13916839 | intron variant | C/T | snv | 0.39 | 2 | ||
rs724159949 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 15 | |||
rs724159950 | 1.000 | 0.200 | 21 | 37486571 | frameshift variant | TGAG/GAA | delins | 6 | |||
rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 | |
rs372949028 | 0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 | 13 | |
rs165656 | 0.925 | 0.200 | 22 | 19961340 | intron variant | G/A;C;T | snv | 5 | |||
rs864309503 | 0.882 | 0.200 | 22 | 30941503 | missense variant | G/A | snv | 5 | |||
rs1569146649 | 1.000 | 0.200 | 22 | 42211545 | frameshift variant | -/T | delins | 2 | |||
rs1555910048 | 1.000 | 0.200 | 22 | 50720739 | frameshift variant | -/CCGTGGGCAGCCCCGG | delins | 1 | |||
rs28934908 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 23 | ||
rs28935468 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 17 | |||
rs28934904 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 9 | |||
rs61748421 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 9 | |||
rs104894743 | 0.807 | 0.200 | X | 25012937 | missense variant | G/A | snv | 7 | |||
rs122445108 | 0.807 | 0.320 | X | 77717155 | stop gained | G/A | snv | 7 | |||
rs121918524 | 0.827 | 0.200 | X | 54011232 | missense variant | A/G | snv | 6 | |||
rs121918364 | 0.851 | 0.200 | X | 100662227 | missense variant | A/C | snv | 3.3E-05 | 2.9E-05 | 5 | |
rs122460151 | 0.851 | 0.280 | X | 2958423 | missense variant | C/G | snv | 7.1E-05 | 3.8E-05 | 5 | |
rs61748420 | 0.851 | 0.200 | X | 154031329 | missense variant | G/A;T | snv | 5 | |||
rs121434613 | 0.882 | 0.240 | X | 111194402 | missense variant | C/A | snv | 4 | |||
rs121434614 | 0.925 | 0.200 | X | 111196570 | missense variant | G/C | snv | 3 | |||
rs121918523 | 0.925 | 0.200 | X | 54016662 | stop gained | T/A | snv | 3 | |||
rs122468181 | 0.925 | 0.200 | X | 119837771 | stop gained | G/A;T | snv | 3 |