| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs142441643 | 0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 | 15 | |
| rs750380279 | 0.851 | 0.200 | 5 | 218357 | start lost | T/A;C;G | snv | 8.7E-06; 8.7E-06 | 6 | ||
| rs387906780 | 0.882 | 0.120 | 5 | 251439 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 4 | |
| rs1061517 | 0.925 | 0.080 | 5 | 218356 | start lost | A/C;G;T | snv | 8.7E-06 | 3 | ||
| rs1057523165 | 0.925 | 0.080 | 5 | 223569 | splice donor variant | G/A | snv | 1.6E-05 | 7.0E-06 | 3 | |
| rs1064793567 | 0.925 | 0.080 | 5 | 240451 | stop gained | CG/GA | mnv | 3 | |||
| rs151170408 | 0.925 | 0.080 | 5 | 235230 | stop gained | C/G | snv | 8.0E-06 | 7.0E-06 | 3 | |
| rs151266052 | 0.925 | 0.120 | 5 | 240448 | missense variant | C/T | snv | 6.0E-04 | 2.4E-03 | 3 | |
| rs1553998199 | 0.925 | 0.080 | 5 | 228248 | frameshift variant | G/- | delins | 3 | |||
| rs1553998606 | 0.925 | 0.080 | 5 | 230880 | frameshift variant | T/- | del | 3 | |||
| rs200397144 | 1.000 | 5 | 251427 | missense variant | C/G;T | snv | 2.4E-05; 4.0E-06 | 3 | |||
| rs397514541 | 0.925 | 0.120 | 5 | 240451 | missense variant | C/G;T | snv | 4.0E-06 | 3 | ||
| rs587782077 | 0.925 | 0.080 | 5 | 228229 | frameshift variant | G/- | delins | 1.4E-05 | 3 | ||
| rs746165168 | 0.925 | 0.080 | 5 | 233635 | stop gained | C/A;T | snv | 4.0E-06 | 3 | ||
| rs748089700 | 0.925 | 0.080 | 5 | 240459 | stop gained | C/T | snv | 3.2E-05 | 4.9E-05 | 3 | |
| rs766667009 | 0.925 | 0.080 | 5 | 251104 | splice donor variant | G/T | snv | 4.0E-06 | 1.4E-05 | 3 | |
| rs775143272 | 0.925 | 0.080 | 5 | 228191 | stop gained | C/T | snv | 4.0E-06 | 3 | ||
| rs775827529 | 0.925 | 0.080 | 5 | 225979 | stop gained | C/G;T | snv | 8.0E-06 | 3 | ||
| rs778207102 | 0.925 | 0.080 | 5 | 240396 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 3 | |
| rs781764920 | 0.925 | 0.080 | 5 | 224432 | stop gained | C/T | snv | 9.2E-05 | 2.8E-05 | 3 | |
| rs876658486 | 0.925 | 0.080 | 5 | 226041 | stop gained | T/A | snv | 3 | |||
| rs878854627 | 0.925 | 0.080 | 5 | 236599 | splice donor variant | GG/- | del | 4.0E-06 | 7.0E-06 | 3 | |
| rs9809219 | 0.925 | 0.120 | 5 | 251100 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 3 | |
| rs1560980939 | 0.925 | 0.080 | 5 | 218395 | frameshift variant | -/CTGGCGC | delins | 2 | |||
| rs1041809852 | 0.925 | 0.080 | 5 | 228324 | splice donor variant | TGCCACAGGGTAGGAATCTCATTTCT/- | delins | 2 |