| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs16847548 | 0.807 | 0.120 | 1 | 162065484 | upstream gene variant | T/C | snv | 0.22 | 8 | ||
| rs1399804251 | 1.000 | 0.120 | 7 | 150948443 | inframe insertion | -/GTGTCC | delins | 1 | |||
| rs749697698 | 0.882 | 0.120 | 3 | 38551520 | inframe deletion | AAG/- | delins | 2.0E-05 | 3 | ||
| rs1554425226 | 1.000 | 0.120 | 7 | 150950249 | inframe deletion | ATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGC/- | delins | 1 | |||
| rs397508068 | 1.000 | 0.120 | 11 | 2583527 | inframe deletion | CTT/- | delins | 1 | |||
| rs794728442 | 1.000 | 0.120 | 7 | 150951478 | inframe deletion | TCT/- | delins | 1 | |||
| rs199473441 | 1.000 | 0.120 | 11 | 2445099 | start lost | A/G;T | snv | 1 | |||
| rs1800171 | 0.882 | 0.120 | 11 | 2583545 | splice region variant | G/A;C;T | snv | 4.0E-06 | 3 | ||
| rs397508111 | 0.882 | 0.120 | 11 | 2528023 | splice region variant | G/A;C | snv | 1.2E-05 | 3 | ||
| rs1563193513 | 1.000 | 0.120 | 7 | 150977837 | splice region variant | CT/- | delins | 1 | |||
| rs770047651 | 1.000 | 0.120 | 7 | 150957291 | splice region variant | C/T | snv | 1 | |||
| rs794728380 | 1.000 | 0.120 | 7 | 150951442 | splice region variant | A/G | snv | 1 | |||
| rs1057520598 | 1.000 | 0.120 | 7 | 150959738 | splice acceptor variant | T/C | snv | 1 | |||
| rs1554425320 | 1.000 | 0.120 | 7 | 150950421 | splice acceptor variant | CTG/TT | delins | 1 | |||
| rs1564820372 | 1.000 | 0.120 | 11 | 2571324 | splice acceptor variant | G/C | snv | 1 | |||
| rs1564820729 | 1.000 | 0.120 | 11 | 2572011 | splice acceptor variant | A/C | snv | 1 | |||
| rs1564886323 | 1.000 | 0.120 | 11 | 2768842 | splice acceptor variant | AG/- | del | 1 | |||
| rs397508133 | 1.000 | 0.120 | 11 | 2583433 | splice acceptor variant | A/C;G | snv | 1 | |||
| rs775537394 | 1.000 | 0.120 | 11 | 2661960 | splice acceptor variant | G/T | snv | 4.0E-06 | 1 | ||
| rs794728478 | 1.000 | 0.120 | 7 | 150952854 | splice acceptor variant | C/T | snv | 1 | |||
| rs794728562 | 1.000 | 0.120 | 11 | 2776985 | splice acceptor variant | G/- | delins | 1 | |||
| rs863224478 | 1.000 | 0.120 | 7 | 150958473 | splice acceptor variant | -/AGCTTCAGGCGGAAGGTCTTGGCGCGGCC | delins | 1 | |||
| rs878854348 | 1.000 | 0.120 | 11 | 2777975 | splice acceptor variant | G/C | snv | 1 | |||
| rs878854350 | 1.000 | 0.120 | 11 | 2776984 | splice acceptor variant | A/G | snv | 1 | |||
| rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 |