| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs770998368 | 0.827 | 0.240 | 13 | 102861511 | missense variant | C/G;T | snv | 4.0E-06 | 5 | ||
| rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs552453137 | 0.925 | 0.160 | 3 | 14165512 | missense variant | A/G | snv | 2.0E-05 | 7.0E-06 | 2 | |
| rs886037979 | 0.925 | 0.040 | 17 | 43094747 | stop gained | G/A;C | snv | 2 | |||
| rs779179826 | 1.000 | 0.040 | 19 | 54982593 | missense variant | G/T | snv | 4.0E-06 | 1 | ||
| rs776037868 | 1.000 | 0.040 | 19 | 54982866 | missense variant | G/T | snv | 7.2E-05 | 1 | ||
| rs7220719 | 0.882 | 0.120 | 17 | 61736921 | intron variant | A/G | snv | 0.73 | 3 | ||
| rs11871753 | 0.851 | 0.120 | 17 | 61779284 | intron variant | A/G | snv | 0.75 | 4 | ||
| rs16945628 | 0.851 | 0.120 | 17 | 61789868 | intron variant | T/C | snv | 0.60 | 4 | ||
| rs913202196 | 1.000 | 0.040 | 16 | 69368452 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
| rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
| rs2735343 | 0.790 | 0.240 | 10 | 87945672 | non coding transcript exon variant | G/C | snv | 0.39 | 11 | ||
| rs751570713 | 1.000 | 0.040 | 8 | 89935609 | stop gained | G/C;T | snv | 4.0E-06 | 2 | ||
| rs767094704 | 1.000 | 0.040 | 8 | 89935614 | splice acceptor variant | T/C | snv | 4.0E-06 | 1 | ||
| rs1563497529 | 1.000 | 0.040 | 8 | 89937022 | splice donor variant | TACCTAAAAAGAT/- | delins | 1 | |||
| rs142301194 | 1.000 | 0.040 | 8 | 89937024 | splice donor variant | A/C | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs1554554265 | 1.000 | 0.040 | 8 | 89937066 | stop gained | G/A | snv | 1 | |||
| rs1554554267 | 1.000 | 0.040 | 8 | 89937072 | stop gained | G/A | snv | 1 | |||
| rs1057517262 | 1.000 | 0.040 | 8 | 89937076 | splice acceptor variant | C/T | snv | 1 | |||
| rs756363734 | 1.000 | 0.040 | 8 | 89943252 | splice donor variant | C/A;T | snv | 8.0E-06 | 2 | ||
| rs786204181 | 1.000 | 0.040 | 8 | 89943272 | stop gained | C/G;T | snv | 1 | |||
| rs1554555782 | 1.000 | 0.040 | 8 | 89943296 | frameshift variant | CGAGCATGATGAGCTATTAGATC/- | del | 1 | |||
| rs730881864 | 0.882 | 0.160 | 8 | 89943297 | stop gained | G/A;C | snv | 2.4E-05; 4.0E-05 | 4 | ||
| rs730881857 | 0.882 | 0.120 | 8 | 89943320 | stop gained | G/C | snv | 4.0E-06 | 1.4E-05 | 4 |