Source: CLINVAR
| 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 | |||
| rs1022453298 | 1.000 | 0.160 | 5 | 132370023 | frameshift variant | C/- | delins | 1 | |||
| rs1057517069 | 1.000 | 0.160 | 5 | 132370366 | splice donor variant | G/A | snv | 1 | |||
| rs11568520 | 1.000 | 0.160 | 5 | 132370023 | missense variant | C/G | snv | 1.2E-04 | 4.9E-05 | 1 | |
| rs1253026669 | 1.000 | 0.160 | 5 | 132370224 | stop gained | C/G;T | snv | 1 | |||
| rs1321705165 | 1.000 | 0.160 | 5 | 132370363 | stop gained | G/A;T | snv | 1.7E-05 | 7.0E-06 | 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 | |||
| rs1554085973 | 1.000 | 0.160 | 5 | 132370222 | frameshift variant | -/CCGGCTCGCCACCA | delins | 1 | |||
| rs202088921 | 1.000 | 0.160 | 5 | 132370108 | missense variant | C/G;T | snv | 4.5E-04 | 1 | ||
| rs377767449 | 1.000 | 0.160 | 5 | 132370222 | frameshift variant | -/GGCTCGCCACC | delins | 1 | |||
| rs72552726 | 1.000 | 0.160 | 5 | 132370220 | missense variant | G/T | snv | 2.7E-04 | 3.5E-05 | 1 | |
| rs774971089 | 1.000 | 0.160 | 5 | 132369973 | start lost | A/G;T | snv | 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 | |||
| rs1057516805 | 1.000 | 0.160 | 5 | 132387024 | splice acceptor variant | G/C | 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 | |||
| rs114269482 | 1.000 | 0.160 | 5 | 132385370 | missense variant | C/T | snv | 9.1E-05 | 1.8E-04 | 1 | |
| rs1178584184 | 1.000 | 0.160 | 5 | 132378412 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs121908886 | 1.000 | 0.160 | 5 | 132387044 | stop gained | C/T | snv | 4.0E-05 | 4.9E-05 | 1 | |
| rs121908887 | 1.000 | 0.160 | 5 | 132390838 | stop gained | -/A | delins | 1 | |||
| rs121908888 | 1.000 | 0.160 | 5 | 132384281 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 1 |