| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
| rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 24 | ||
| rs1553154130 | 0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv | 18 | |||
| rs119103263 | 0.827 | 0.240 | 1 | 11992659 | missense variant | C/T | snv | 17 | |||
| rs672601334 | 0.752 | 0.400 | 1 | 155904798 | missense variant | G/C | snv | 17 | |||
| rs730881014 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 15 | |||
| rs869025191 | 0.827 | 0.160 | 1 | 155904739 | missense variant | C/A;G;T | snv | 9 | |||
| rs869312687 | 0.925 | 0.080 | 1 | 155910695 | missense variant | T/G | snv | 8 | |||
| rs886039900 | 0.925 | 0.320 | 1 | 27549887 | frameshift variant | C/- | delins | 8 | |||
| rs1057518799 | 0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins | 7 | |||
| rs1553763618 | 0.925 | 0.040 | 1 | 145977482 | splice acceptor variant | G/A | snv | 4 | |||
| rs782661984 | 0.925 | 0.040 | 1 | 145974824 | splice acceptor variant | G/A | snv | 2.3E-05 | 1.4E-05 | 4 | |
| rs200635937 | 0.925 | 0.040 | 1 | 168104855 | missense variant | A/T | snv | 2.9E-03 | 8.0E-04 | 3 | |
| rs144709443 | 1 | 19155051 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |||
| rs1480591236 | 1 | 228276699 | missense variant | C/T | snv | 7.0E-06 | 1 | ||||
| rs1557523211 | 1 | 55073913 | splice region variant | G/A | snv | 1 | |||||
| rs1557810606 | 1 | 24814131 | missense variant | C/T | snv | 1 | |||||
| rs1557853919 | 1 | 153939040 | missense variant | G/A | snv | 1 | |||||
| rs1558053119 | 1 | 184717581 | missense variant | A/C | snv | 1 | |||||
| rs540351799 | 1 | 29325243 | missense variant | A/C | snv | 1.2E-05 | 1.4E-05 | 1 | |||
| rs559634261 | 1 | 39318497 | missense variant | G/A | snv | 2.0E-05 | 1 | ||||
| rs559788899 | 1 | 29303909 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 1 | |||
| rs747262678 | 1 | 228279343 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |||
| rs747867083 | 1 | 19119624 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |||
| rs748323629 | 1 | 19151825 | missense variant | T/C | snv | 8.0E-06 | 2.8E-05 | 1 |