Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs587776660 | 1.000 | 0.160 | 19 | 1221994 | inframe deletion | TCCGGCAGC/- | del | 1 | |||
| rs876658584 | 1.000 | 0.160 | 19 | 1218415 | splice acceptor variant | A/G | snv | 2 | |||
| rs112675807 | 1.000 | 0.160 | 19 | 1218416 | splice acceptor variant | G/A;C;T | snv | 1 | |||
| rs1555738319 | 1.000 | 0.160 | 19 | 1220580 | splice acceptor variant | G/A | snv | 1 | |||
| rs587776658 | 1.000 | 0.160 | 19 | 1220372 | splice acceptor variant | G/A | snv | 1 | |||
| rs727504172 | 1.000 | 0.160 | 19 | 1222983 | splice acceptor variant | A/C;T | snv | 1 | |||
| rs863224448 | 1.000 | 0.160 | 19 | 1221948 | splice acceptor variant | G/A | snv | 1 | |||
| rs1555738475 | 0.776 | 0.400 | 19 | 1220707 | frameshift variant | G/- | delins | 12 | |||
| rs1131690917 | 1.000 | 0.160 | 19 | 1207066 | frameshift variant | GGG/-;G;GGGG | delins | 2 | |||
| rs1131690949 | 1.000 | 0.160 | 19 | 1221320 | frameshift variant | -/G | delins | 2 | |||
| rs121913320 | 1.000 | 0.160 | 19 | 1221265 | frameshift variant | TTTG/- | delins | 2 | |||
| rs121913321 | 1.000 | 0.160 | 19 | 1221315 | frameshift variant | CC/-;C;CCC | delins | 2 | |||
| rs397518440 | 1.000 | 0.160 | 19 | 1219367 | frameshift variant | C/- | del | 2 | |||
| rs397518443 | 0.925 | 0.200 | 19 | 1222998 | frameshift variant | AA/-;A | delins | 2 | |||
| rs587782424 | 1.000 | 0.160 | 19 | 1219346 | frameshift variant | TG/- | delins | 2 | |||
| rs1060499960 | 1.000 | 0.160 | 19 | 1223051 | frameshift variant | ACCGGTGG/- | delins | 1 | |||
| rs1060499961 | 1.000 | 0.160 | 19 | 1207041 | frameshift variant | C/- | delins | 1 | |||
| rs1555735001 | 1.000 | 0.160 | 19 | 1207091 | frameshift variant | -/AC | delins | 1 | |||
| rs1555735008 | 1.000 | 0.160 | 19 | 1207093 | frameshift variant | C/- | del | 1 | |||
| rs1555735014 | 1.000 | 0.160 | 19 | 1207112 | frameshift variant | C/- | del | 1 | |||
| rs1555737814 | 1.000 | 0.160 | 19 | 1219389 | frameshift variant | GT/- | del | 1 | |||
| rs1555738219 | 1.000 | 0.160 | 19 | 1220431 | frameshift variant | -/GGACATCA | delins | 1 | |||
| rs1555738656 | 1.000 | 0.160 | 19 | 1221270 | frameshift variant | -/GA | delins | 1 | |||
| rs1555738667 | 1.000 | 0.160 | 19 | 1221294 | frameshift variant | C/- | del | 1 | |||
| rs1555738683 | 1.000 | 0.160 | 19 | 1221299 | frameshift variant | T/AC | delins | 1 |