Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587782818 | 0.790 | 0.160 | 17 | 58703325 | stop gained | C/G | snv | 6.4E-05; 4.0E-06 | 1.4E-05 | 8 | |
rs730881939 | 0.851 | 0.200 | 17 | 58695008 | stop gained | -/A | delins | 5 | |||
rs1060502601 | 0.882 | 0.200 | 17 | 58709884 | frameshift variant | T/- | delins | 4 | |||
rs200293302 | 0.882 | 0.200 | 17 | 58703201 | stop gained | C/T | snv | 4.0E-05 | 4 | ||
rs387907159 | 0.882 | 0.200 | 17 | 58695182 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs587780259 | 0.882 | 0.120 | 17 | 58709857 | splice acceptor variant | A/C;G | snv | 2.0E-05 | 2.1E-05 | 4 | |
rs587782528 | 0.882 | 0.200 | 17 | 58692740 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 4 | |
rs730881942 | 0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 | 4 | ||
rs770637624 | 0.882 | 0.200 | 17 | 58709862 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 | 4 | |
rs267606999 | 0.925 | 17 | 58696702 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 | 3 | ||
rs587781287 | 0.925 | 17 | 58724090 | stop gained | C/A;T | snv | 8.0E-06 | 7.0E-06 | 3 | ||
rs587781410 | 0.925 | 17 | 58732548 | inframe deletion | GTA/- | delins | 3 | ||||
rs587781995 | 0.925 | 17 | 58724038 | splice acceptor variant | AG/- | del | 1.2E-05 | 7.0E-06 | 3 | ||
rs587782036 | 0.925 | 17 | 58696692 | splice acceptor variant | G/A;C | snv | 3 | ||||
rs587782702 | 0.925 | 17 | 58720817 | splice region variant | G/T | snv | 1.6E-05 | 1.4E-05 | 3 | ||
rs730881931 | 0.925 | 17 | 58695191 | splice donor variant | T/C | snv | 4.1E-06 | 7.0E-06 | 3 | ||
rs754367349 | 0.925 | 17 | 58709927 | frameshift variant | T/- | del | 3 | ||||
rs760235677 | 0.925 | 17 | 58709991 | splice donor variant | G/A;T | snv | 1.2E-05 | 3 | |||
rs876659874 | 0.925 | 17 | 58724049 | stop gained | G/A | snv | 7.0E-06 | 3 | |||
rs1057517641 | 0.925 | 17 | 58692790 | splice donor variant | T/G | snv | 2 |