| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs2304277 | 0.776 | 0.280 | 3 | 9759396 | non coding transcript exon variant | G/A | snv | 0.26 | 8 | ||
| rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
| rs746702110 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 38 | |
| rs79722116 | 0.882 | 0.120 | 9 | 95107192 | synonymous variant | C/T | snv | 4.6E-04 | 2.0E-04 | 3 | |
| rs774440500 | 1.000 | 0.120 | 11 | 94464115 | frameshift variant | -/T | delins | 4.0E-06; 1.6E-05 | 2 | ||
| rs137852761 | 0.882 | 0.320 | 11 | 94447288 | stop gained | G/A | snv | 6.0E-05 | 7.0E-05 | 4 | |
| rs8037137 | 0.807 | 0.160 | 15 | 90963407 | upstream gene variant | T/C | snv | 0.19 | 8 | ||
| rs200389141 | 0.776 | 0.320 | 15 | 90761015 | stop gained | C/A;T | snv | 4.1E-06; 1.4E-04 | 1.7E-04 | 11 | |
| rs587776650 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 11 | ||
| rs1564570283 | 1.000 | 0.120 | 10 | 87965294 | frameshift variant | TGTACTTCACAAAAACA/- | del | 1 | |||
| rs1057517809 | 0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv | 4 | |||
| rs121909231 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 32 | |||
| rs146650273 | 0.882 | 0.160 | 10 | 87961042 | frameshift variant | ACTT/- | delins | 4 | |||
| rs1057519368 | 0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 | 4 | ||
| rs1564566861 | 1.000 | 0.120 | 10 | 87957933 | frameshift variant | A/- | del | 1 | |||
| rs121909219 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 25 | |||
| rs1564838034 | 1.000 | 0.120 | 10 | 87952250 | frameshift variant | G/- | delins | 1 | |||
| rs121913294 | 0.776 | 0.280 | 10 | 87952143 | missense variant | G/A;C;T | snv | 8.0E-06 | 14 | ||
| rs876660507 | 1.000 | 0.120 | 10 | 87952134 | missense variant | G/T | snv | 2 | |||
| rs1564830444 | 1.000 | 0.120 | 10 | 87933217 | frameshift variant | -/TT | delins | 1 | |||
| rs786201044 | 0.827 | 0.200 | 10 | 87933165 | missense variant | T/C | snv | 8 | |||
| rs587782360 | 0.851 | 0.280 | 10 | 87933162 | missense variant | A/G | snv | 5 | |||
| rs121909229 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 23 | |||
| rs121909224 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 41 | ||
| rs398123318 | 0.776 | 0.240 | 10 | 87925558 | splice region variant | AGTA/- | delins | 9 |