Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs387906846 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 19 | |||
rs1558939623 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 19 | |||
rs139632595 | 0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 | 19 | |
rs1057518879 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 19 | |||
rs771409809 | 0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 | 19 | |
rs1564421528 | 0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv | 16 | |||
rs724159949 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 15 | |||
rs1064795760 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 14 | |||
rs75184679 | 0.776 | 0.360 | 13 | 50945445 | missense variant | G/A | snv | 1.4E-03 | 1.4E-03 | 14 | |
rs141322087 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 13 | |
rs869312824 | 0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv | 13 | |||
rs786200952 | 0.851 | 0.120 | 8 | 41934340 | frameshift variant | -/T | delins | 13 | |||
rs1344172059 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 12 | ||
rs869025195 | 0.790 | 0.280 | 1 | 155904493 | missense variant | T/G | snv | 11 | |||
rs1559662068 | 0.925 | 3 | 9741340 | frameshift variant | AG/T | delins | 10 | ||||
rs1563595095 | 0.776 | 0.320 | 8 | 60781285 | frameshift variant | AA/T | delins | 10 | |||
rs869312823 | 0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv | 9 | |||
rs1085307138 | 0.807 | 0.160 | 8 | 143817591 | splice donor variant | C/T | snv | 9 | |||
rs772037717 | 0.882 | 0.080 | 6 | 98875675 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 8 | |
rs1218912272 | 0.925 | 0.160 | 1 | 152314342 | stop gained | T/A | snv | 4.0E-06 | 8 | ||
rs724159953 | 1.000 | 21 | 37505352 | stop gained | C/T | snv | 7 | ||||
rs724159948 | 1.000 | 21 | 37490273 | stop gained | C/T | snv | 7 | ||||
rs1380822792 | 0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins | 7 | |||
rs1057518681 | 0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv | 7 | |||
rs724159951 | 21 | 37493101 | missense variant | T/C | snv | 6 |