Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057516523 | 0.925 | 0.080 | 1 | 179552682 | splice acceptor variant | C/T | snv | 2 | |||
rs1057516680 | 0.925 | 0.080 | 1 | 179575862 | start lost | C/A;T | snv | 2 | |||
rs1057517164 | 0.925 | 0.080 | 1 | 179552617 | stop gained | G/A | snv | 2 | |||
rs1060499703 | 0.925 | 0.080 | 1 | 179559762 | splice acceptor variant | C/T | snv | 2 | |||
rs1167223941 | 0.925 | 0.080 | 1 | 179575699 | stop gained | C/A;T | snv | 2 | |||
rs1212702104 | 0.925 | 0.080 | 1 | 179557025 | splice donor variant | A/G | snv | 2 | |||
rs12568913 | 0.925 | 0.080 | 1 | 179557179 | stop gained | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 2 | ||
rs1291398331 | 0.925 | 0.080 | 1 | 179557231 | splice acceptor variant | C/A | snv | 7.0E-06 | 2 | ||
rs1490010141 | 0.925 | 0.080 | 1 | 179552614 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs1553312833 | 0.925 | 0.080 | 1 | 179552602 | splice donor variant | C/T | snv | 2 | |||
rs1553315173 | 0.925 | 0.080 | 1 | 179564795 | splice acceptor variant | T/C | snv | 2 | |||
rs199506378 | 0.925 | 0.080 | 1 | 179551435 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
rs74315345 | 0.925 | 0.080 | 1 | 179575591 | missense variant | C/A;G;T | snv | 2 | |||
rs74315346 | 0.925 | 0.080 | 1 | 179559734 | missense variant | T/A;C | snv | 2 | |||
rs74315347 | 0.925 | 0.080 | 1 | 179557227 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 2 | |
rs74315348 | 0.925 | 0.080 | 1 | 179552605 | missense variant | G/A;C | snv | 2.0E-05; 4.0E-06 | 2 | ||
rs755972674 | 0.925 | 0.080 | 1 | 179561355 | stop gained | G/A | snv | 8.0E-06 | 2 | ||
rs762631237 | 0.925 | 0.080 | 1 | 179564689 | splice donor variant | C/T | snv | 8.0E-06 | 2 | ||
rs763818901 | 0.925 | 0.080 | 1 | 179551361 | stop gained | G/A;C | snv | 4.0E-06 | 2 | ||
rs775006954 | 0.925 | 0.080 | 1 | 179554491 | missense variant | A/T | snv | 1.6E-05 | 1.0E-04 | 2 | |
rs776016942 | 0.925 | 0.080 | 1 | 179551452 | splice acceptor variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs778055996 | 0.925 | 0.080 | 1 | 179557122 | stop gained | G/A;C | snv | 1.2E-05; 8.4E-05 | 2 | ||
rs786204583 | 0.925 | 0.080 | 1 | 179559711 | missense variant | G/A | snv | 2 | |||
rs786204708 | 0.925 | 0.080 | 1 | 179561287 | splice donor variant | A/T | snv | 2 | |||
rs869312746 | 0.925 | 0.080 | 1 | 179575750 | stop gained | G/A | snv | 2 |