| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs201430951 | 0.925 | 0.040 | 14 | 31599308 | missense variant | T/C | snv | 1.5E-04 | 5.6E-05 | 7 | |
| rs137852863 | 0.882 | 0.120 | 5 | 61073136 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 5 | |
| rs786205225 | 0.851 | 0.200 | X | 47142690 | stop gained | G/A | snv | 4 | |||
| rs1555703272 | 0.925 | 0.080 | 17 | 81715568 | stop gained | A/T | snv | 4 | |||
| rs28384199 | 0.882 | 0.160 | MT | 11777 | missense variant | C/A;G | snv | 3 | |||
| rs752513525 | 0.882 | 0.120 | 19 | 19526257 | missense variant | G/A;T | snv | 2.4E-05 | 3 | ||
| rs757043077 | 0.882 | 0.120 | 20 | 13808873 | missense variant | G/T | snv | 4.0E-06; 4.4E-05 | 1.4E-05 | 3 | |
| rs142609245 | 0.882 | 0.040 | 2 | 201078946 | missense variant | T/C | snv | 8.5E-04 | 1.1E-03 | 3 | |
| rs398124308 | 0.925 | 0.120 | 11 | 126275000 | frameshift variant | -/AGTG | delins | 2 | |||
| rs150667550 | 0.925 | 0.120 | 1 | 161210599 | missense variant | T/C | snv | 3.5E-04 | 1.1E-04 | 2 | |
| rs376281345 | 0.925 | 0.120 | 5 | 53603451 | splice acceptor variant | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs587776949 | 0.925 | 0.120 | 5 | 53683152 | frameshift variant | A/-;AA | delins | 2.8E-05 | 2 | ||
| rs121913659 | 0.925 | 0.040 | 11 | 67612225 | missense variant | C/T | snv | 1.2E-05 | 3.5E-05 | 2 | |
| rs199683937 | 0.925 | 0.040 | 11 | 67611982 | splice region variant | A/C | snv | 6.0E-05 | 4.9E-05 | 2 | |
| rs118161496 | 1.000 | 0.040 | 14 | 31850092 | non coding transcript exon variant | T/C | snv | 3.4E-03 | 3.4E-03 | 2 | |
| rs373075574 | 1.000 | 0.040 | 11 | 126273068 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 1 | |
| rs536400690 | 1.000 | 0.040 | 11 | 126275327 | missense variant | G/C | snv | 2.6E-04 | 7.0E-05 | 1 | |
| rs199476116 | 1.000 | 0.040 | MT | 5132 | frameshift variant | AA/- | delins | 1 | |||
| rs267606888 | 1.000 | 0.040 | MT | 4810 | stop gained | G/A | snv | 1 | |||
| rs1485032272 | 1.000 | 0.040 | 2 | 206144919 | missense variant | T/A;C | snv | 4.0E-06 | 1 | ||
| rs750971390 | 1.000 | 0.040 | 2 | 206152508 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 | 1 | |
| rs771783839 | 1.000 | 0.040 | 11 | 47582437 | missense variant | G/A;T | snv | 4.4E-05; 4.0E-06 | 1 | ||
| rs138867882 | 1.000 | 0.040 | 11 | 47580977 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 | 1 | |
| rs104893898 | 1.000 | 0.040 | 5 | 53646371 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
| rs104893899 | 1.000 | 0.040 | 5 | 53560706 | stop gained | G/A | snv | 1 |