Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs376526037 | 0.776 | 0.440 | 10 | 49483504 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 | 8 | |
rs121917901 | 0.790 | 0.440 | 10 | 49478437 | stop gained | G/A | snv | 7.2E-05 | 4.9E-05 | 7 | |
rs373227647 | 0.790 | 0.440 | 10 | 49472472 | splice acceptor variant | T/C | snv | 8.0E-06 | 7.0E-06 | 7 | |
rs121917902 | 0.790 | 0.440 | 10 | 49524073 | stop gained | G/A | snv | 7 | |||
rs185142838 | 0.851 | 0.400 | 10 | 49461473 | stop gained | G/A | snv | 1.4E-04 | 9.1E-05 | 5 | |
rs202080674 | 0.851 | 0.160 | 10 | 49482848 | missense variant | G/A | snv | 8.0E-06 | 4 | ||
rs875989810 | 0.851 | 0.400 | 10 | 49528426 | stop gained | C/A | snv | 4 | |||
rs1198472093 | 0.882 | 0.400 | 10 | 49532542 | splice donor variant | C/G;T | snv | 8.0E-06 | 2.1E-05 | 3 | |
rs1228919836 | 0.882 | 0.400 | 10 | 49493116 | splice donor variant | C/T | snv | 4.0E-06 | 1.4E-05 | 3 | |
rs1287286877 | 0.882 | 0.400 | 10 | 49470367 | frameshift variant | -/TC | delins | 4.0E-06 | 3 | ||
rs1317145066 | 0.882 | 0.400 | 10 | 49506014 | splice acceptor variant | T/C | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs1362935450 | 0.882 | 0.400 | 10 | 49478353 | splice donor variant | C/T | snv | 3 | |||
rs1386369933 | 0.882 | 0.400 | 10 | 49461463 | frameshift variant | -/G | delins | 7.0E-06 | 3 | ||
rs1441655600 | 0.882 | 0.400 | 10 | 49482686 | splice donor variant | C/T | snv | 3 | |||
rs1554787509 | 0.882 | 0.400 | 10 | 49474065 | stop gained | G/A | snv | 3 | |||
rs1554787554 | 0.882 | 0.400 | 10 | 49474243 | splice acceptor variant | C/T | snv | 3 | |||
rs1554788393 | 0.882 | 0.240 | 10 | 49482818 | missense variant | T/C | snv | 3 | |||
rs1554789393 | 0.882 | 0.400 | 10 | 49493117 | frameshift variant | C/TT | delins | 3 | |||
rs1554794073 | 0.882 | 0.400 | 10 | 49528527 | splice acceptor variant | T/C | snv | 3 | |||
rs1554794360 | 0.882 | 0.400 | 10 | 49530824 | frameshift variant | G/- | delins | 3 | |||
rs1554794620 | 0.882 | 0.400 | 10 | 49532705 | frameshift variant | GC/- | delins | 3 | |||
rs1554794640 | 0.882 | 0.400 | 10 | 49532751 | frameshift variant | G/- | delins | 3 | |||
rs1554794641 | 0.882 | 0.400 | 10 | 49532757 | frameshift variant | -/C | delins | 3 | |||
rs1554873950 | 0.882 | 0.400 | 10 | 49460371 | splice donor variant | A/T | snv | 3 | |||
rs1554873973 | 0.882 | 0.400 | 10 | 49460453 | splice acceptor variant | T/C | snv | 3 |