Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs147334255 | 1.000 | 22 | 27750995 | stop gained | G/A | snv | 3 | ||||
rs1553212545 | 1.000 | 1 | 151406046 | stop gained | G/A | snv | 3 | ||||
rs1553212626 | 1.000 | 1 | 151406151 | frameshift variant | -/A | delins | 3 | ||||
rs1553212978 | 1.000 | 1 | 151406322 | frameshift variant | -/T | delins | 3 | ||||
rs1553238271 | 1.000 | 1 | 7661827 | stop gained | C/T | snv | 2 | ||||
rs1553249737 | 1.000 | 1 | 165743263 | stop gained | G/T | snv | 4 | ||||
rs1553255354 | 1.000 | 1 | 229431843 | missense variant | C/G | snv | 2 | ||||
rs1553259463 | 1.000 | 1 | 113901815 | stop gained | GACAT/- | delins | 2 | ||||
rs1553259529 | 1.000 | 1 | 161306152 | frameshift variant | -/C | delins | 3 | ||||
rs1553270522 | 1.000 | 1 | 244054804 | frameshift variant | GATGA/- | delins | 3 | ||||
rs1553352926 | 0.925 | 2 | 60545969 | splice donor variant | A/G | snv | 3 | ||||
rs1553353206 | 1.000 | 1 | 224398525 | frameshift variant | CATTTAACAA/- | delins | 3 | ||||
rs1553479405 | 1.000 | 2 | 120989603 | frameshift variant | C/- | del | 3 | ||||
rs1553521389 | 1.000 | 2 | 224503679 | frameshift variant | AG/- | delins | 3 | ||||
rs1553544102 | 1.000 | 2 | 199308769 | frameshift variant | TC/- | delins | 2 | ||||
rs1553583712 | 1.000 | 2 | 165354339 | frameshift variant | GA/- | del | 2 | ||||
rs1553629086 | 1.000 | 2 | 196201282 | missense variant | C/T | snv | 2 | ||||
rs1553630221 | 1.000 | 3 | 30672234 | missense variant | G/C | snv | 2 | ||||
rs1553631770 | 1.000 | 3 | 41233398 | missense variant | A/T | snv | 4 | ||||
rs1553666033 | 1.000 | 3 | 25783352 | frameshift variant | C/- | del | 2 | ||||
rs1553690452 | 1.000 | 3 | 11028845 | stop gained | C/T | snv | 2 | ||||
rs1553693712 | 1.000 | 3 | 9734167 | frameshift variant | TT/- | delins | 2 | ||||
rs1553704696 | 1.000 | 2 | 229859313 | frameshift variant | T/- | delins | 2 | ||||
rs1553749681 | 0.925 | 3 | 51064514 | stop gained | C/T | snv | 4 | ||||
rs1553810244 | 1.000 | 3 | 177038369 | missense variant | T/A | snv | 2 |