Source: CLINVAR ×
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 45 | ||
| rs1057519882 | 0.807 | 0.200 | 9 | 21974678 | missense variant | C/A | snv | 7 | |||
| rs121913286 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 20 | |||
| rs866775781 | 0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv | 17 | |||
| rs104894226 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 23 | |||
| rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 30 | |||
| rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 52 | |||
| rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 36 | |||
| rs1057519895 | 0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv | 14 | |||
| rs1057519989 | 0.732 | 0.240 | 17 | 7674233 | missense variant | C/A;G;T | snv | 15 | |||
| rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 42 | ||
| rs11554273 | 0.689 | 0.240 | 20 | 58909365 | missense variant | C/A;G;T | snv | 4.0E-06 | 17 | ||
| rs121912656 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 20 | ||
| rs121912657 | 0.683 | 0.480 | 17 | 7673806 | missense variant | C/A;G;T | snv | 4.0E-06 | 15 | ||
| rs121913351 | 0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 | 9 | ||
| rs28934575 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 25 | |||
| rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 39 | ||
| rs483352697 | 0.695 | 0.480 | 17 | 7674944 | missense variant | C/A;G;T | snv | 4.0E-06 | 17 | ||
| rs587778720 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 25 | ||
| rs587782664 | 0.742 | 0.320 | 17 | 7674252 | missense variant | C/A;G;T | snv | 4.0E-06 | 14 | ||
| rs730882005 | 0.701 | 0.400 | 17 | 7674250 | missense variant | C/A;G;T | snv | 8.0E-06 | 20 | ||
| rs730882008 | 0.683 | 0.440 | 17 | 7673775 | missense variant | C/A;G;T | snv | 4.0E-06 | 22 | ||
| rs786201059 | 0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv | 19 | |||
| rs80338963 | 0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv | 11 | |||
| rs863224451 | 0.701 | 0.440 | 17 | 7673796 | missense variant | C/A;G;T | snv | 19 |