| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs975757101 | 1.000 | 0.120 | 11 | 22226034 | synonymous variant | G/A | snv | 1 | |||
| rs1557058294 | 1.000 | 0.120 | X | 32823294 | splice donor variant | C/T | snv | 1 | |||
| rs760251358 | 1.000 | 0.120 | X | 31209642 | missense variant | T/C | snv | 1.6E-05 | 1 | ||
| rs34997054 | 1.000 | 0.120 | 2 | 71511847 | missense variant | G/A | snv | 7.1E-03 | 4.1E-03 | 1 | |
| rs1553264624 | 1.000 | 0.120 | 1 | 156130724 | inframe deletion | AGCGCACGCTGGAGG/- | del | 1 | |||
| rs1553265369 | 1.000 | 0.120 | 1 | 156134954 | inframe deletion | GAG/- | delins | 1 | |||
| rs1553265433 | 1.000 | 0.120 | 1 | 156135208 | missense variant | G/C | snv | 1 | |||
| rs1553265436 | 1.000 | 0.120 | 1 | 156135214 | inframe deletion | GAACAG/- | delins | 1 | |||
| rs1553265761 | 1.000 | 0.120 | 1 | 156136111 | inframe deletion | GAG/- | delins | 1 | |||
| rs267607644 | 1.000 | 0.120 | 1 | 156115022 | missense variant | T/C | snv | 1 | |||
| rs769561386 | 1.000 | 0.120 | 1 | 156138575 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 1 | |
| rs780302064 | 1.000 | 0.120 | 1 | 156137212 | missense variant | C/G;T | snv | 9.5E-06 | 1 | ||
| rs369758958 | 1.000 | 0.120 | 1 | 228316753 | missense variant | C/T | snv | 3.3E-05 | 7.0E-06 | 1 | |
| rs72554656 | 1.000 | 0.120 | X | 78042645 | stop gained | C/T | snv | 1 | |||
| rs755660222 | 1.000 | 0.120 | 14 | 77301228 | frameshift variant | C/- | delins | 1.2E-05 | 1 | ||
| rs797045898 | 1.000 | 0.120 | 14 | 77283874 | splice acceptor variant | CTAGG/TCA | delins | 1 | |||
| rs747064211 | 1.000 | 0.120 | 6 | 161350178 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
| rs376510500 | 1.000 | 0.120 | 20 | 38156054 | missense variant | G/A | snv | 2.4E-05 | 4.9E-05 | 1 | |
| rs1457591395 | 1.000 | 0.120 | 8 | 86427804 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
| rs1556962271 | 0.925 | 0.120 | X | 31875197 | frameshift variant | -/AATG | delins | 2 | |||
| rs1557396600 | 0.925 | 0.120 | X | 32518006 | splice donor variant | A/C | snv | 2 | |||
| rs1553555585 | 0.925 | 0.120 | 2 | 71570335 | splice donor variant | G/T | snv | 2 | |||
| rs267607576 | 0.925 | 0.160 | 1 | 156136219 | missense variant | G/A;C | snv | 1.2E-05 | 2 | ||
| rs267607634 | 0.925 | 0.120 | 1 | 156136045 | missense variant | G/A;C | snv | 2 | |||
| rs57207746 | 0.925 | 0.120 | 1 | 156134860 | missense variant | G/A | snv | 2 |