Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs796052243 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 54 | |||
rs28935468 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 14 | |||
rs61749715 | 0.851 | 0.120 | X | 154031154 | missense variant | G/A;C | snv | 8 | |||
rs28934906 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 40 | |||
rs28934907 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 29 | |||
rs869312825 | 0.827 | 0.120 | 1 | 1804548 | start lost | T/C | snv | 11 | |||
rs752746786 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 30 | ||
rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 | |
rs1057524820 | 0.776 | 0.280 | 12 | 51765746 | missense variant | G/A;T | snv | 33 | |||
rs1057516264 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 13 | |||
rs864309505 | 0.807 | 0.200 | 11 | 6615220 | missense variant | T/G | snv | 10 | |||
rs1554901898 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 12 | |||
rs553522118 | 0.882 | 0.160 | 11 | 6617338 | stop gained | G/A;T | snv | 5 | |||
rs1564855725 | 0.882 | 0.160 | 11 | 6617621 | splice region variant | C/T | snv | 5 | |||
rs387907260 | 0.776 | 0.280 | 7 | 66633410 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 22 | |
rs796052686 | 0.776 | 0.280 | 7 | 66638394 | missense variant | G/A | snv | 1.2E-05 | 22 | ||
rs1057524157 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 19 | |||
rs1057519565 | 0.851 | 0.200 | 11 | 687941 | missense variant | C/T | snv | 9 | |||
rs121907966 | 0.882 | 0.160 | 15 | 72345477 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 9 | |
rs1057519468 | 0.925 | 0.160 | 15 | 72345518 | stop gained | C/T | snv | 4.0E-06 | 6 | ||
rs1057519467 | 0.925 | 0.160 | 15 | 72345540 | missense variant | C/T | snv | 5 | |||
rs762374961 | 0.925 | 0.160 | 15 | 72346235 | stop gained | C/A;T | snv | 4 | |||
rs121907978 | 0.925 | 0.160 | 15 | 72346296 | missense variant | C/G;T | snv | 7 | |||
rs1057519466 | 0.925 | 0.160 | 15 | 72346307 | frameshift variant | G/- | del | 7 | |||
rs387906309 | 0.925 | 0.160 | 15 | 72346579 | frameshift variant | -/GATA | delins | 4.0E-06; 8.0E-04 | 4.5E-04 | 10 |