Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs754279998 | 0.776 | 0.360 | 17 | 58208153 | inframe deletion | GAG/- | delins | 2.0E-05 | 1.4E-05 | 10 | |
rs1555599412 | 0.827 | 0.320 | 17 | 58213011 | stop gained | C/A | snv | 5 | |||
rs375170572 | 0.827 | 0.320 | 17 | 58218618 | splice donor variant | A/G | snv | 3.2E-05 | 3.5E-05 | 5 | |
rs386834048 | 0.827 | 0.320 | 17 | 58216088 | splice region variant | C/T | snv | 1.3E-04 | 1.3E-04 | 5 | |
rs386834043 | 0.851 | 0.320 | 17 | 58206553 | splice region variant | ATGCCATTGGGACAGCCTCAGGTTTCTGC/- | delins | 1.3E-03 | 4 | ||
rs762668200 | 0.882 | 0.320 | 17 | 58206543 | splice acceptor variant | -/C | delins | 6.5E-05 | 7.0E-06 | 3 |