| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1131691712 | 19 | 13286952 | frameshift variant | -/A | delins | 4.2E-06 | 1 | ||||
| rs1553676901 | 3 | 53776046 | splice donor variant | G/C | snv | 1 | |||||
| rs1554121872 | 0.882 | 0.040 | 5 | 150250270 | missense variant | T/G | snv | 7 | |||
| rs1554389088 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 27 | |||
| rs1554402092 | 1.000 | 7 | 44254555 | missense variant | C/T | snv | 8 | ||||
| rs1555977248 | 1.000 | X | 41542781 | stop gained | T/A | snv | 3 | ||||
| rs397517076 | 0.925 | 0.160 | 11 | 119278165 | splice acceptor variant | G/C;T | snv | 3 | |||
| rs781986930 | 1.000 | 0.040 | 6 | 112069565 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 2 | ||
| rs1554314738 | 6 | 112069431 | frameshift variant | -/C | delins | 1 | |||||
| rs587777618 | 0.925 | 12 | 4299977 | missense variant | A/G | snv | 4 | ||||
| rs104894094 | 0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 | 6 | ||
| rs1554599036 | 1.000 | 8 | 60828698 | frameshift variant | GAACACTGTGGAAGAAC/- | del | 4 | ||||
| rs886041166 | 1.000 | 8 | 60742366 | stop gained | C/T | snv | 3 | ||||
| rs386834124 | 0.925 | 0.120 | 8 | 1771263 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 4 | |
| rs761621368 | 1.000 | 8 | 1780408 | frameshift variant | C/- | delins | 4.0E-06 | 3.5E-05 | 3 | ||
| rs1555605688 | 17 | 59668852 | missense variant | C/T | snv | 2 | |||||
| rs1064795935 | 1.000 | 13 | 110181389 | missense variant | C/T | snv | 3 | ||||
| rs1555303010 | 13 | 110176450 | missense variant | C/T | snv | 2 | |||||
| rs1555302735 | 13 | 110173899 | splice donor variant | C/T | snv | 1 | |||||
| rs750451693 | 3 | 149210191 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 1 | |||
| rs917027829 | 1.000 | 5 | 150069942 | stop gained | G/A;T | snv | 4.0E-06 | 3 | |||
| rs545986367 | 0.882 | 0.080 | 21 | 43774690 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 | 4 | |
| rs869320802 | 1.000 | 4 | 1213028 | missense variant | G/A | snv | 2 | ||||
| rs1555535739 | 1.000 | 16 | 67626653 | stop gained | C/T | snv | 3 | ||||
| rs775104326 | 0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 | 10 |