| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 32 | |
| rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 31 | |
| rs772551056 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 9 | ||
| rs587782703 | 0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 | 8 | ||
| rs764575966 | 0.882 | 0.080 | 1 | 161356832 | stop gained | C/T | snv | 3.6E-05 | 7.0E-06 | 8 | |
| rs529008617 | 0.851 | 0.160 | 1 | 45331529 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 | 7 | |
| rs587776653 | 0.827 | 0.160 | 1 | 161356841 | splice donor variant | G/A;C;T | snv | 8.0E-06 | 7 | ||
| rs587782604 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
| rs786201095 | 0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 | 7 | ||
| rs876658461 | 0.827 | 0.200 | 1 | 17023975 | stop gained | G/A | snv | 7 | |||
| rs1057517457 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 6 | ||
| rs1131691061 | 0.827 | 0.280 | 1 | 17054017 | start lost | C/T | snv | 6 | |||
| rs121913121 | 0.851 | 0.320 | 1 | 241513661 | missense variant | T/G | snv | 6 | |||
| rs398122805 | 0.851 | 0.120 | 1 | 17028599 | splice donor variant | C/G;T | snv | 1.2E-05 | 6 | ||
| rs730881833 | 0.827 | 0.160 | 1 | 45332242 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 6 | ||
| rs74315366 | 0.851 | 0.120 | 1 | 17033078 | stop gained | G/A;C | snv | 8.0E-06 | 6 | ||
| rs74315369 | 0.851 | 0.080 | 1 | 17044882 | stop gained | G/A;C | snv | 8.0E-06; 4.4E-05 | 6 | ||
| rs1060503757 | 0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins | 5 | |||
| rs1131691049 | 0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv | 5 | |||
| rs138996609 | 0.882 | 0.080 | 1 | 17022685 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 5 | |
| rs140342925 | 0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 | 5 | |
| rs143353451 | 0.851 | 0.120 | 1 | 45332794 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 | 5 | ||
| rs201286421 | 0.882 | 0.080 | 1 | 161323636 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 5 | |
| rs267607032 | 0.882 | 0.080 | 1 | 17028605 | missense variant | C/A | snv | 1.2E-05 | 2.8E-05 | 5 | |
| rs372267274 | 0.882 | 0.120 | 1 | 45333171 | splice acceptor variant | C/G;T | snv | 5 |