| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057519051 | 0.882 | 0.200 | 5 | 132390825 | stop gained | T/G | snv | 3 | |||
| rs118203945 | 0.882 | 0.280 | 1 | 11273836 | missense variant | A/G | snv | 3 | |||
| rs397514669 | 0.882 | 0.280 | 1 | 11285644 | missense variant | G/A | snv | 7.0E-06 | 3 | ||
| rs386134209 | 1.000 | 0.160 | 5 | 132387039 | frameshift variant | C/-;CC | delins | 7.0E-06 | 2 | ||
| rs1022453298 | 1.000 | 0.160 | 5 | 132370023 | frameshift variant | C/- | delins | 1 | |||
| rs1057516402 | 1.000 | 0.160 | 5 | 132394183 | splice acceptor variant | A/G | snv | 1 | |||
| rs1057516765 | 1.000 | 0.160 | 5 | 132378475 | stop gained | C/G | snv | 1 | |||
| rs1057516797 | 1.000 | 0.160 | 5 | 132370127 | frameshift variant | -/GACGCCG | delins | 1 | |||
| rs1057516805 | 1.000 | 0.160 | 5 | 132387024 | splice acceptor variant | G/C | snv | 1 | |||
| rs1057517069 | 1.000 | 0.160 | 5 | 132370366 | splice donor variant | G/A | snv | 1 | |||
| rs1057517106 | 1.000 | 0.160 | 5 | 132378377 | splice acceptor variant | G/T | snv | 1 | |||
| rs1057517306 | 1.000 | 0.160 | 5 | 132393678 | frameshift variant | -/C | delins | 1 | |||
| rs1057518297 | 1.000 | 0.160 | 5 | 132390889 | stop gained | C/T | snv | 1 | |||
| rs1157198543 | 1.000 | 0.160 | 5 | 132393745 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
| rs121908887 | 1.000 | 0.160 | 5 | 132390838 | stop gained | -/A | delins | 1 | |||
| rs121908892 | 1.000 | 0.160 | 5 | 132369975 | start lost | G/A;T | snv | 1 | |||
| rs1253026669 | 1.000 | 0.160 | 5 | 132370224 | stop gained | C/G;T | snv | 1 | |||
| rs1554085861 | 1.000 | 0.160 | 5 | 132369882 | start lost | GCCTGGTCGGCGGCGGGTGCCCCGCGCGCACGCGCAAAGCCCGCCGCGTTCCCCGACCCCAGGCCGCGCTCTGTGGGCCTCTGAGGGCGGCATGCGGGACTACGACGAGGTGA/- | del | 1 | |||
| rs1554085885 | 1.000 | 0.160 | 5 | 132369974 | start lost | T/G | snv | 1 | |||
| rs1554085892 | 1.000 | 0.160 | 5 | 132369985 | frameshift variant | G/- | del | 1 | |||
| rs1554085942 | 1.000 | 0.160 | 5 | 132370157 | stop gained | G/A | snv | 1 | |||
| rs1554085973 | 1.000 | 0.160 | 5 | 132370222 | frameshift variant | -/CCGGCTCGCCACCA | delins | 1 | |||
| rs1554086010 | 1.000 | 0.160 | 5 | 132370333 | stop gained | C/T | snv | 1 | |||
| rs1554087461 | 1.000 | 0.160 | 5 | 132385327 | frameshift variant | -/TATGGCCATCAGGTTGGAG | delins | 1 | |||
| rs1554087491 | 1.000 | 0.160 | 5 | 132385429 | frameshift variant | T/- | delins | 1 |