Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555613206 | 0.925 | 0.200 | 17 | 31221929 | missense variant | G/A;T | snv | 3 | |||
rs199474747 | 0.925 | 0.120 | 17 | 31229155 | missense variant | T/C;G | snv | 3 | |||
rs199474750 | 1.000 | 0.120 | 17 | 31258502 | missense variant | G/A;C;T | snv | 3 | |||
rs267606604 | 0.925 | 0.120 | 17 | 31336328 | splice region variant | A/G | snv | 3 | |||
rs786202782 | 0.925 | 0.120 | 17 | 31223476 | frameshift variant | ACTA/- | delins | 3 | |||
rs1057517967 | 1.000 | 0.120 | 17 | 31181724 | stop gained | G/A | snv | 2 | |||
rs1057518792 | 1.000 | 0.080 | 17 | 31229024 | splice acceptor variant | G/A;C | snv | 2 | |||
rs1060500242 | 1.000 | 0.120 | 17 | 31260496 | stop gained | C/T | snv | 2 | |||
rs1060500296 | 1.000 | 0.120 | 17 | 31336474 | splice donor variant | G/A | snv | 2 | |||
rs1060500387 | 1.000 | 0.120 | 17 | 31358566 | frameshift variant | AG/- | delins | 2 | |||
rs1085307459 | 1.000 | 0.120 | 17 | 31325958 | frameshift variant | CTCT/- | delins | 2 | |||
rs1131691067 | 1.000 | 0.120 | 17 | 31203089 | intron variant | A/G | snv | 2 | |||
rs1131691077 | 1.000 | 0.120 | 17 | 31235916 | splice acceptor variant | A/G | snv | 2 | |||
rs1131691084 | 1.000 | 0.120 | 17 | 31337517 | frameshift variant | GAGA/-;GA | delins | 2 | |||
rs1131691089 | 1.000 | 0.120 | 17 | 31232071 | splice acceptor variant | A/G;T | snv | 2 | |||
rs1131691090 | 1.000 | 0.120 | 17 | 31356981 | stop gained | C/G | snv | 2 | |||
rs1131691092 | 1.000 | 0.120 | 17 | 31233030 | frameshift variant | AA/- | del | 2 | |||
rs1131691096 | 1.000 | 0.120 | 17 | 31221930 | splice donor variant | G/A;C;T | snv | 2 | |||
rs1131691100 | 1.000 | 0.120 | 17 | 31155981 | splice acceptor variant | A/G;T | snv | 2 | |||
rs1131691105 | 1.000 | 0.120 | 17 | 31227216 | splice acceptor variant | A/C;G | snv | 2 | |||
rs1131691106 | 1.000 | 0.120 | 17 | 31201441 | frameshift variant | T/- | delins | 2 | |||
rs1131691114 | 1.000 | 0.120 | 17 | 31343008 | splice acceptor variant | G/T | snv | 2 | |||
rs1131691117 | 1.000 | 0.120 | 17 | 31327840 | splice donor variant | G/A | snv | 2 | |||
rs1131691122 | 1.000 | 0.120 | 17 | 31229466 | splice donor variant | G/A;T | snv | 2 | |||
rs1131691127 | 1.000 | 0.120 | 17 | 31230378 | frameshift variant | T/-;TT | delins | 2 |