Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691052 | 1.000 | 0.080 | 1 | 17023972 | splice donor variant | C/G;T | snv | 2 | |||
rs570278423 | 1.000 | 0.080 | 1 | 17033077 | missense variant | C/T | snv | 8.0E-06 | 3.5E-05 | 2 | |
rs727503415 | 1.000 | 0.080 | 1 | 17033069 | missense variant | A/G | snv | 2 | |||
rs747198089 | 1.000 | 0.080 | 1 | 17044873 | frameshift variant | G/- | delins | 4.0E-06 | 2 | ||
rs786203800 | 1.000 | 0.080 | 1 | 17053994 | stop gained | A/T | snv | 2 | |||
rs794728946 | 1.000 | 0.080 | 1 | 17027763 | stop gained | C/A;G | snv | 2 | |||
rs876658540 | 1.000 | 0.080 | 1 | 17024049 | missense variant | C/A | snv | 2 | |||
rs876659329 | 1.000 | 0.040 | 1 | 17044767 | missense variant | A/G;T | snv | 2 | |||
rs878854576 | 1.000 | 0.080 | 1 | 17028727 | missense variant | C/T | snv | 2 | |||
rs587781266 | 0.925 | 0.080 | 1 | 17022654 | frameshift variant | GAGA/- | delins | 3 | |||
rs778952116 | 0.925 | 0.080 | 1 | 17028736 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 3 | |
rs1060503764 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 4 | |||
rs1131691055 | 0.925 | 0.080 | 1 | 17044889 | splice acceptor variant | C/A;T | snv | 4 | |||
rs200245469 | 0.925 | 0.080 | 1 | 17022724 | missense variant | G/A;C | snv | 4.0E-06 | 4 | ||
rs397516835 | 0.925 | 0.080 | 1 | 17024040 | missense variant | C/G;T | snv | 4 | |||
rs398123690 | 0.925 | 0.080 | 1 | 17044849 | frameshift variant | G/-;GGG | delins | 4 | |||
rs587782617 | 0.925 | 0.080 | 1 | 17023999 | frameshift variant | ATTTGTCTCC/- | del | 4 | |||
rs786201316 | 0.925 | 0.080 | 1 | 17028712 | frameshift variant | T/CC | delins | 4 | |||
rs786202100 | 0.925 | 0.080 | 1 | 17044791 | frameshift variant | GAGGT/- | delins | 4 | |||
rs786203506 | 0.925 | 0.080 | 1 | 17028649 | stop gained | G/A;C;T | snv | 4 | |||
rs794728947 | 0.925 | 0.080 | 1 | 17033135 | frameshift variant | -/G | delins | 4.0E-06 | 4 | ||
rs876658367 | 0.882 | 0.080 | 1 | 17024028 | missense variant | C/T | snv | 4 | |||
rs1060503757 | 0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins | 5 | |||
rs1131691049 | 0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv | 5 | |||
rs138996609 | 0.882 | 0.080 | 1 | 17022685 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 5 |