| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs199473693 | 0.882 | 0.160 | 1 | 150553750 | frameshift variant | AGGCCTCTGGCACAGAGCCC/- | delins | 3 | |||
| rs794726688 | 0.925 | 0.160 | 1 | 150553816 | frameshift variant | CGTGCATCCCC/- | delins | 2 | |||
| rs118203985 | 0.925 | 0.080 | 1 | 150556974 | stop gained | T/A;G | snv | 4.0E-06; 2.0E-05 | 2 | ||
| rs368482584 | 1.000 | 1 | 150557296 | stop gained | C/T | snv | 4.5E-05 | 2.1E-05 | 1 | ||
| rs587776927 | 1.000 | 1 | 150552897 | splice acceptor variant | G/A | snv | 1 | ||||
| rs794726689 | 1.000 | 1 | 150553056 | frameshift variant | C/- | delins | 1 |