Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121908887 | 1.000 | 0.160 | 5 | 132390838 | stop gained | -/A | delins | 1 | |||
| rs386134225 | 1.000 | 0.160 | 5 | 132393780 | frameshift variant | -/ACAC | delins | 1 | |||
| rs1057517306 | 1.000 | 0.160 | 5 | 132393678 | frameshift variant | -/C | delins | 1 | |||
| rs878853248 | 1.000 | 0.160 | 5 | 132392527 | frameshift variant | -/C | delins | 1 | |||
| rs1554085973 | 1.000 | 0.160 | 5 | 132370222 | frameshift variant | -/CCGGCTCGCCACCA | delins | 1 | |||
| rs1057516797 | 1.000 | 0.160 | 5 | 132370127 | frameshift variant | -/GACGCCG | delins | 1 | |||
| rs377767449 | 1.000 | 0.160 | 5 | 132370222 | frameshift variant | -/GGCTCGCCACC | delins | 1 | |||
| rs781330134 | 1.000 | 0.160 | 5 | 132390886 | frameshift variant | -/T | delins | 1.4E-05 | 1 | ||
| rs1554087461 | 1.000 | 0.160 | 5 | 132385327 | frameshift variant | -/TATGGCCATCAGGTTGGAG | delins | 1 | |||
| rs1554087719 | 1.000 | 0.160 | 5 | 132387081 | frameshift variant | A/- | del | 1 | |||
| rs1554088578 | 1.000 | 0.160 | 5 | 132393779 | frameshift variant | A/- | del | 1 | |||
| rs386134201 | 1.000 | 0.160 | 5 | 132385326 | splice acceptor variant | A/C | snv | 1 | |||
| rs777004046 | 1.000 | 0.160 | 5 | 132390688 | splice acceptor variant | A/C;G | snv | 3.6E-05; 4.0E-06 | 1 | ||
| rs1057516402 | 1.000 | 0.160 | 5 | 132394183 | splice acceptor variant | A/G | snv | 1 | |||
| rs121908888 | 1.000 | 0.160 | 5 | 132384281 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs1554087913 | 1.000 | 0.160 | 5 | 132388919 | splice acceptor variant | A/G | snv | 1 | |||
| rs386134218 | 1.000 | 0.160 | 5 | 132392505 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
| rs72552725 | 0.882 | 0.280 | 5 | 132370067 | missense variant | A/G | snv | 2.4E-05 | 2.1E-05 | 1 | |
| rs774971089 | 1.000 | 0.160 | 5 | 132369973 | start lost | A/G;T | snv | 1 | |||
| rs878853249 | 1.000 | 0.160 | 5 | 132385334 | stop gained | A/T | snv | 1 | |||
| rs1022453298 | 1.000 | 0.160 | 5 | 132370023 | frameshift variant | C/- | delins | 1 | |||
| rs762986044 | 1.000 | 0.160 | 5 | 132370106 | frameshift variant | C/- | delins | 1 | |||
| rs386134209 | 1.000 | 0.160 | 5 | 132387039 | frameshift variant | C/-;CC | delins | 7.0E-06 | 1 | ||
| rs761090705 | 1.000 | 0.160 | 5 | 132393769 | frameshift variant | C/-;CC | delins | 1 | |||
| rs386134221 | 1.000 | 0.160 | 5 | 132392568 | missense variant | C/A;G | snv | 4.0E-06; 8.0E-06 | 1 |