| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs141498002 | 0.827 | 0.280 | 16 | 8811099 | stop gained | G/A;T | snv | 1.1E-04; 5.2E-06 | 8 | ||
| rs143044921 | 0.827 | 0.280 | 13 | 38691375 | missense variant | G/A;T | snv | 3.5E-03 | 8 | ||
| rs1557569831 | 0.925 | 0.120 | 1 | 43431458 | splice acceptor variant | A/G | snv | 8 | |||
| rs746200792 | 0.925 | 0.120 | 1 | 43437254 | inframe deletion | TGT/- | delins | 8 | |||
| rs1110061 | 0.807 | 0.200 | 9 | 124500523 | missense variant | C/A;G | snv | 4.3E-06; 0.10 | 7 | ||
| rs121918463 | 0.851 | 0.240 | 12 | 112477651 | missense variant | T/A;C;G | snv | 6 | |||
| rs122445099 | 0.827 | 0.400 | X | 77520832 | stop gained | G/A | snv | 6 | |||
| rs1565295267 | 0.827 | 0.360 | 11 | 61774051 | missense variant | C/A | snv | 6 | |||
| rs1565573786 | 0.807 | 0.160 | 12 | 49091165 | stop gained | G/C;T | snv | 6 | |||
| rs1568303086 | 0.882 | 0.320 | 18 | 55228877 | missense variant | C/A | snv | 5 | |||
| rs554416372 | 0.827 | 0.160 | 11 | 32396397 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06; 9.6E-05 | 5 | ||
| rs1135402740 | 0.925 | 0.240 | 18 | 2674018 | missense variant | T/G | snv | 4 | |||
| rs1480612338 | 0.851 | 0.160 | 12 | 49090416 | missense variant | C/T | snv | 4.3E-06 | 4 | ||
| rs1553329427 | 0.851 | 0.200 | 2 | 31580683 | frameshift variant | A/- | del | 4 | |||
| rs1554904772 | 0.882 | 0.280 | 11 | 1443490 | missense variant | G/A | snv | 4 | |||
| rs765057534 | 0.851 | 0.240 | 15 | 51222402 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
| rs797045005 | 0.851 | 0.320 | 12 | 49185140 | missense variant | A/G | snv | 4 | |||
| rs1020397 | 0.882 | 0.160 | 15 | 80426396 | intron variant | G/C;T | snv | 3 | |||
| rs3757824 | 0.882 | 0.160 | 7 | 17296411 | non coding transcript exon variant | T/C;G | snv | 3 | |||
| rs869312712 | 0.925 | 0.360 | 6 | 157084866 | stop gained | C/T | snv | 3 | |||
| rs104894697 | 1.000 | 0.120 | 19 | 17816972 | missense variant | G/A;C | snv | 3.5E-04; 4.0E-06 | 1 | ||
| rs121912555 | 1.000 | 0.120 | 19 | 17816920 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs121918303 | 1.000 | 0.120 | 13 | 31777398 | missense variant | A/C;G | snv | 4.6E-03; 4.0E-06 | 1 | ||
| rs1284683098 | 1.000 | 0.120 | 2 | 176093070 | synonymous variant | G/A | snv | 1 | |||
| rs776428407 | 1.000 | 0.120 | 7 | 27174194 | missense variant | C/A;T | snv | 4.3E-06; 4.3E-06 | 1 |