| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs143139258 | 0.882 | 0.080 | 12 | 110913097 | missense variant | T/G | snv | 2.0E-04 | 2.9E-04 | 4 | |
| rs104894368 | 0.882 | 0.080 | 12 | 110919133 | stop gained | C/A;G;T | snv | 4.0E-06; 8.0E-06; 2.0E-05 | 3 | ||
| rs104894369 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 3 | |||
| rs587782965 | 0.882 | 0.080 | 12 | 110914221 | missense variant | G/T | snv | 3 | |||
| rs397516408 | 0.925 | 0.080 | 12 | 110919117 | missense variant | T/C | snv | 2 | |||
| rs397516407 | 0.925 | 0.080 | 12 | 110911090 | missense variant | T/C;G | snv | 2 | |||
| rs199474814 | 1.000 | 0.040 | 12 | 110911094 | missense variant | C/T | snv | 1 | |||
| rs727503296 | 1.000 | 0.040 | 12 | 110911096 | missense variant | T/C | snv | 1 | |||
| rs397516406 | 0.925 | 0.040 | 12 | 110911093 | missense variant | C/T | snv | 1 | |||
| rs397516399 | 1.000 | 0.040 | 12 | 110914200 | missense variant | C/G;T | snv | 1 | |||
| rs397516398 | 1.000 | 0.040 | 12 | 110914267 | missense variant | C/T | snv | 1 | |||
| rs1566147422 | 12 | 110911146 | frameshift variant | AG/- | del | 1 | |||||
| rs751392310 | 12 | 110919103 | inframe deletion | CCT/- | delins | 7.0E-06 | 1 | ||||
| rs730880944 | 1.000 | 0.080 | 12 | 110919144 | missense variant | A/G | snv | 1 | |||
| rs863225117 | 1.000 | 0.080 | 12 | 110915759 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
| rs199474813 | 1.000 | 0.080 | 12 | 110911176 | splice acceptor variant | C/A;G;T | snv | 4.0E-06; 4.8E-05; 4.0E-06 | 1 | ||
| rs121913658 | 1.000 | 0.080 | 12 | 110913316 | missense variant | G/A;C | snv | 4.0E-06 | 1 | ||
| rs104894363 | 1.000 | 0.080 | 12 | 110919160 | missense variant | C/T | snv | 3.7E-04 | 2.0E-04 | 1 | |
| rs104894370 | 1.000 | 0.080 | 12 | 110919145 | missense variant | A/G | snv | 1 |