| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1177389968 | 0.925 | 0.160 | 4 | 158684619 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
| rs876661309 | 0.925 | 0.080 | 1 | 154990456 | inframe deletion | CCT/- | delins | 2 | |||
| rs876661310 | 0.925 | 0.080 | 1 | 154988299 | frameshift variant | -/GC | delins | 7.0E-06 | 2 | ||
| rs876661311 | 0.925 | 0.080 | 1 | 154988567 | frameshift variant | T/- | delins | 2 | |||
| rs876661312 | 0.925 | 0.080 | 1 | 154988258 | frameshift variant | GCAGGGGGCATC/CA | delins | 2 | |||
| rs876661313 | 0.925 | 0.080 | 1 | 154988129 | frameshift variant | TTCT/- | delins | 2 | |||
| rs1166778729 | 1.000 | 0.080 | 12 | 104315822 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
| rs1466787789 | 1.000 | 0.080 | 4 | 158703447 | missense variant | G/C | snv | 1 | |||
| rs796051962 | 1.000 | 0.080 | 4 | 158682314 | frameshift variant | -/GT | delins | 1 | |||
| rs796051964 | 1.000 | 0.080 | 4 | 158680482 | frameshift variant | -/T | delins | 1 | |||
| rs876661314 | 1.000 | 0.080 | 1 | 154984015 | frameshift variant | G/- | delins | 1 | |||
| rs876661315 | 1.000 | 0.080 | 1 | 154988230 | frameshift variant | C/- | del | 1 | |||
| rs887871605 | 1.000 | 0.080 | 4 | 158682264 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
| rs993314323 | 1.000 | 0.080 | 4 | 158706845 | missense variant | C/T | snv | 1 | |||
| rs1482632936 | 1.000 | 0.080 | 4 | 158690406 | missense variant | A/C | snv | 4.0E-06 | 1 | ||
| rs121964956 | 0.925 | 0.080 | 4 | 158682399 | missense variant | T/A;C | snv | 8.0E-06; 4.0E-06 | 2 | ||
| rs748289922 | 1.000 | 0.080 | 4 | 158690393 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
| rs1358691961 | 1.000 | 0.080 | 4 | 158699051 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
| rs1339093491 | 0.925 | 0.200 | 19 | 43508031 | missense variant | T/A;C | snv | 4.0E-06 | 2 | ||
| rs751821289 | 1.000 | 0.080 | 4 | 158706269 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 1 | |
| rs773668457 | 1.000 | 0.080 | 4 | 158680553 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs1442766122 | 1.000 | 0.080 | 4 | 158706228 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs387907170 | 0.925 | 0.080 | 4 | 158703436 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
| rs549150456 | 1.000 | 0.080 | 4 | 158684649 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
| rs767046886 | 1.000 | 0.080 | 4 | 158703592 | splice donor variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 |