| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs3842689 | 0.925 | 0.080 | 3 | 119782551 | intron variant | GAGAAG/-;GAGAAGGAGAAG | delins | 0.35 | 2 | ||
| rs5333 | 0.827 | 0.280 | 4 | 147539885 | synonymous variant | T/C | snv | 0.28 | 0.34 | 5 | |
| rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
| rs1057516900 | 0.925 | 0.080 | 1 | 179551262 | frameshift variant | -/G | delins | 4.0E-06 | 2 | ||
| rs1214047676 | 1.000 | 0.080 | 1 | 179551304 | missense variant | G/A | snv | 1 | |||
| rs866921812 | 1.000 | 0.080 | 1 | 179551327 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
| rs776859868 | 1.000 | 0.080 | 1 | 179551360 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05; 2.0E-05 | 1 | ||
| rs763818901 | 0.925 | 0.080 | 1 | 179551361 | stop gained | G/A;C | snv | 4.0E-06 | 2 | ||
| rs775170915 | 0.925 | 0.080 | 1 | 179551377 | frameshift variant | A/- | del | 1.2E-05 | 2 | ||
| rs199506378 | 0.925 | 0.080 | 1 | 179551435 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
| rs776016942 | 0.925 | 0.080 | 1 | 179551452 | splice acceptor variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
| rs1031744496 | 0.925 | 0.080 | 1 | 179551453 | splice acceptor variant | T/G | snv | 2 | |||
| rs967339926 | 0.925 | 0.080 | 1 | 179552601 | splice donor variant | A/T | snv | 1.4E-05 | 2 | ||
| rs1553312833 | 0.925 | 0.080 | 1 | 179552602 | splice donor variant | C/T | snv | 2 | |||
| rs74315348 | 0.925 | 0.080 | 1 | 179552605 | missense variant | G/A;C | snv | 2.0E-05; 4.0E-06 | 2 | ||
| rs200482683 | 0.827 | 0.120 | 1 | 179552608 | missense variant | C/T | snv | 1.1E-04 | 1.1E-04 | 6 | |
| rs1490010141 | 0.925 | 0.080 | 1 | 179552614 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
| rs1057517164 | 0.925 | 0.080 | 1 | 179552617 | stop gained | G/A | snv | 2 | |||
| rs749740335 | 0.925 | 0.080 | 1 | 179552620 | frameshift variant | TT/- | delins | 6.8E-05 | 9.1E-05 | 3 | |
| rs780761368 | 1.000 | 0.080 | 1 | 179552625 | missense variant | G/A | snv | 4.0E-06 | 3.5E-05 | 1 | |
| rs869312747 | 0.925 | 0.080 | 1 | 179552664 | missense variant | G/A | snv | 2 | |||
| rs1057516523 | 0.925 | 0.080 | 1 | 179552682 | splice acceptor variant | C/T | snv | 2 | |||
| rs775006954 | 0.925 | 0.080 | 1 | 179554491 | missense variant | A/T | snv | 1.6E-05 | 1.0E-04 | 2 | |
| rs1212702104 | 0.925 | 0.080 | 1 | 179557025 | splice donor variant | A/G | snv | 2 |