| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397516341 | 1.000 | 0.040 | 19 | 55157589 | start lost | T/C | snv | 1 | |||
| rs1555336492 | 1.000 | 0.040 | 14 | 23416309 | missense variant | A/G | snv | 1 | |||
| rs397516247 | 1.000 | 0.040 | 14 | 23415174 | missense variant | G/C;T | snv | 1 | |||
| rs753392652 | 1.000 | 0.040 | 14 | 23414007 | splice region variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |
| rs727504325 | 1.000 | 0.040 | 14 | 23418234 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 1 | |
| rs1060501478 | 1.000 | 0.040 | 11 | 47338549 | frameshift variant | T/- | del | 1 | |||
| rs1060501479 | 1.000 | 0.040 | 11 | 47351465 | frameshift variant | -/C | ins | 1 | |||
| rs1060501480 | 1.000 | 0.040 | 11 | 47332221 | frameshift variant | C/- | delins | 1 | |||
| rs1060501481 | 1.000 | 0.040 | 11 | 47337420 | frameshift variant | -/TT | delins | 1 | |||
| rs1060501484 | 1.000 | 0.040 | 11 | 47332576 | frameshift variant | C/- | delins | 1 | |||
| rs1064792936 | 1.000 | 0.040 | 11 | 47351272 | frameshift variant | TGG/CCTCC | delins | 1 | |||
| rs113276889 | 1.000 | 0.040 | 11 | 47343146 | splice acceptor variant | C/A;T | snv | 1 | |||
| rs121909378 | 1.000 | 0.040 | 11 | 47332931 | missense variant | C/A;T | snv | 4.1E-06; 2.5E-05 | 1 | ||
| rs1265248322 | 1.000 | 0.040 | 11 | 47335874 | splice donor variant | CA/- | delins | 1 | |||
| rs1555120651 | 1.000 | 0.040 | 11 | 47333966 | stop gained | G/A | snv | 1 | |||
| rs1555120937 | 1.000 | 0.040 | 11 | 47335940 | frameshift variant | -/CGCCACTTGAGGGAGACCGTGGTGTC | delins | 1 | |||
| rs1555121172 | 1.000 | 0.040 | 11 | 47337425 | frameshift variant | C/- | delins | 1 | |||
| rs1555122053 | 1.000 | 0.040 | 11 | 47341990 | splice donor variant | C/T | snv | 1 | |||
| rs1555122751 | 1.000 | 0.040 | 11 | 47346243 | frameshift variant | CTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCT/- | delins | 1 | |||
| rs1555122811 | 1.000 | 0.040 | 11 | 47346622 | splice donor variant | ACCTC/- | delins | 1 | |||
| rs1555123438 | 1.000 | 0.040 | 11 | 47349921 | splice region variant | -/CTGC | delins | 1 | |||
| rs1555123629 | 1.000 | 0.040 | 11 | 47350591 | frameshift variant | G/- | delins | 1 | |||
| rs1555123633 | 1.000 | 0.040 | 11 | 47350599 | frameshift variant | -/ATGG | delins | 1 | |||
| rs1565622703 | 1.000 | 0.040 | 11 | 47332643 | frameshift variant | -/G | delins | 1 | |||
| rs1565623216 | 1.000 | 0.040 | 11 | 47333331 | splice acceptor variant | TGTCTGCGGGAGAC/- | del | 1 |