| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs143648758 | 1.000 | 0.080 | 4 | 186274198 | stop gained | C/A | snv | 1.2E-05 | 1.4E-05 | 2 | |
| rs756908183 | 1.000 | 0.080 | 4 | 186274190 | stop gained | C/T | snv | 2.8E-05 | 3.5E-05 | 2 | |
| rs201007090 | 1.000 | 0.080 | 4 | 186286490 | stop gained | G/A;C | snv | 3.2E-05 | 2 | ||
| rs1057516431 | 1.000 | 0.080 | 4 | 186280320 | frameshift variant | AC/- | delins | 1 | |||
| rs1057516616 | 1.000 | 0.080 | 4 | 186267161 | frameshift variant | CATT/- | del | 1 | |||
| rs1057516695 | 1.000 | 0.080 | 4 | 186275785 | splice acceptor variant | A/G | snv | 1 | |||
| rs1057516738 | 1.000 | 0.080 | 4 | 186271772 | splice donor variant | G/A | snv | 4.0E-06 | 1 | ||
| rs1057517116 | 1.000 | 0.080 | 4 | 186276222 | splice acceptor variant | CGCGCAGCTTGT/- | delins | 1 | |||
| rs1057517151 | 1.000 | 0.080 | 4 | 186273141 | frameshift variant | G/- | delins | 1 | |||
| rs1057517364 | 1.000 | 0.080 | 4 | 186274115 | splice acceptor variant | G/A | snv | 8.0E-06 | 1 | ||
| rs1057517446 | 1.000 | 0.080 | 4 | 186284186 | frameshift variant | CTCA/- | delins | 1 | |||
| rs121965063 | 1.000 | 0.080 | 4 | 186274193 | stop gained | G/T | snv | 9.3E-04 | 6.4E-04 | 1 | |
| rs121965064 | 0.925 | 0.080 | 4 | 186280258 | missense variant | T/C | snv | 1.1E-03 | 6.4E-04 | 1 | |
| rs121965066 | 1.000 | 0.080 | 4 | 186274228 | stop gained | C/A | snv | 3.2E-05 | 4.9E-05 | 1 | |
| rs121965067 | 1.000 | 0.080 | 4 | 186284167 | missense variant | C/A | snv | 1 | |||
| rs121965068 | 1.000 | 0.080 | 4 | 186284245 | missense variant | C/T | snv | 1 | |||
| rs121965069 | 1.000 | 0.080 | 4 | 186271719 | missense variant | T/C | snv | 1.2E-05 | 1 | ||
| rs121965070 | 1.000 | 0.080 | 4 | 186280065 | missense variant | A/T | snv | 5.0E-04 | 5.4E-04 | 1 | |
| rs121965071 | 1.000 | 0.080 | 4 | 186284209 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 1 | ||
| rs1220869989 | 1.000 | 0.080 | 4 | 186276392 | splice donor variant | T/C | snv | 7.0E-06 | 1 | ||
| rs1316806485 | 1.000 | 0.080 | 4 | 186280386 | splice donor variant | G/A;C | snv | 7.0E-06 | 1 | ||
| rs1340928778 | 1.000 | 0.080 | 4 | 186274239 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
| rs1349655563 | 1.000 | 0.080 | 4 | 186280122 | splice donor variant | G/C | snv | 1.4E-05 | 1 | ||
| rs1439195599 | 1.000 | 0.080 | 4 | 186284085 | splice region variant | GTTG/- | del | 4.0E-06 | 7.0E-06 | 1 | |
| rs1459304265 | 1.000 | 0.080 | 4 | 186276276 | inframe deletion | TCGACA/- | delins | 1 |