Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs797044884 | 0.925 | 17 | 59677123 | frameshift variant | -/GA | delins | 4 | ||||
rs797044885 | 0.925 | 1 | 244055156 | missense variant | A/G | snv | 4 | ||||
rs864321692 | 0.925 | 10 | 28583498 | stop gained | C/A | snv | 4 | ||||
rs869320686 | 0.882 | 22 | 20990476 | missense variant | G/A | snv | 4 | ||||
rs886041081 | 0.925 | 4 | 185144891 | missense variant | G/A | snv | 4 | ||||
rs886041877 | 1.000 | 10 | 87894025 | missense variant | A/C;G | snv | 4 | ||||
rs1045118320 | 0.925 | 9 | 128332219 | missense variant | C/A | snv | 7.0E-06 | 3 | |||
rs1064795935 | 1.000 | 13 | 110181389 | missense variant | C/T | snv | 3 | ||||
rs1131690805 | 0.925 | 6 | 26156815 | frameshift variant | -/G | delins | 3 | ||||
rs1182326570 | 0.925 | 6 | 98926883 | stop gained | T/A | snv | 8.0E-06 | 3 | |||
rs1242562412 | 1.000 | 17 | 39687906 | stop gained | C/A | snv | 2.1E-05 | 3 | |||
rs1304422857 | 1.000 | 12 | 109511304 | splice donor variant | G/A;T | snv | 3 | ||||
rs1313319892 | 1.000 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 | 3 | |||
rs1341894581 | 0.925 | 2 | 232486499 | frameshift variant | ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- | delins | 3.3E-04 | 1.1E-04 | 3 | ||
rs1376334317 | 0.925 | 3 | 136473546 | missense variant | C/T | snv | 3 | ||||
rs1382415023 | 1.000 | 21 | 33554945 | frameshift variant | GAAA/- | delins | 3 | ||||
rs142684762 | 1.000 | 16 | 57659478 | missense variant | A/G | snv | 3 | ||||
rs1462161137 | 1.000 | 17 | 76733042 | frameshift variant | -/A | delins | 7.0E-06 | 3 | |||
rs147334255 | 1.000 | 22 | 27750995 | stop gained | G/A | snv | 3 | ||||
rs1553156053 | 1.000 | 1 | 42929652 | 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 | ||||
rs1553259529 | 1.000 | 1 | 161306152 | frameshift variant | -/C | delins | 3 | ||||
rs1553270522 | 1.000 | 1 | 244054804 | frameshift variant | GATGA/- | delins | 3 |