Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518636 | 1.000 | 17 | 43047646 | frameshift variant | -/A | ins | 3 | ||||
rs1057518637 | 1.000 | 13 | 32336621 | stop gained | C/G;T | snv | 3 | ||||
rs397507828 | 1.000 | 13 | 32340440 | stop gained | G/T | snv | 3 | ||||
rs483353077 | 1.000 | 13 | 32370470 | frameshift variant | TTT/AAAA;NNNN | delins | 3 | ||||
rs80359706 | 1.000 | 13 | 32363522 | frameshift variant | -/T | delins | 3 | ||||
rs1057517590 | 1.000 | 17 | 43063370 | frameshift variant | A/- | del | 2 | ||||
rs1057518635 | 1.000 | 13 | 32340367 | frameshift variant | ATAG/- | delins | 2 | ||||
rs1057518638 | 1.000 | 13 | 32339317 | stop gained | T/A | snv | 2 | ||||
rs1057519699 | 3 | 179218315 | missense variant | G/A | snv | 2 | |||||
rs1060505051 | 1.000 | 17 | 43091883 | frameshift variant | AAGTT/- | delins | 2 | ||||
rs1131692035 | 1.000 | 13 | 32332335 | stop gained | C/G | snv | 2 | ||||
rs1555281594 | 1.000 | 13 | 32332276 | frameshift variant | -/G | delins | 2 | ||||
rs1555282830 | 1.000 | 13 | 32337109 | frameshift variant | C/- | del | 2 | ||||
rs1555283169 | 1.000 | 13 | 32337677 | stop gained | A/T | snv | 2 | ||||
rs1555581104 | 1.000 | 17 | 43071235 | frameshift variant | CC/- | delins | 2 | ||||
rs1555599208 | 1.000 | 17 | 43115726 | stop gained | TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- | del | 2 | ||||
rs397507643 | 1.000 | 13 | 32337181 | frameshift variant | TTAA/- | delins | 2 | ||||
rs397507644 | 1.000 | 13 | 32337198 | frameshift variant | T/- | delins | 2 | ||||
rs397507649 | 1.000 | 13 | 32337345 | stop gained | T/A;G | snv | 2 | ||||
rs397507710 | 1.000 | 13 | 32338504 | frameshift variant | T/- | delins | 2 | ||||
rs397507967 | 1.000 | 13 | 32363397 | stop gained | T/A;G | snv | 2 | ||||
rs397508940 | 1.000 | 17 | 43104958 | splice acceptor variant | T/C;G | snv | 2 | ||||
rs397508983 | 1.000 | 17 | 43092959 | stop gained | G/A;C | snv | 4.0E-06 | 2 | |||
rs397509160 | 1.000 | 17 | 43082474 | stop gained | G/A;T | snv | 2 | ||||
rs80357167 | 1.000 | 17 | 43094066 | stop gained | C/A;T | snv | 2 |