Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587784384 | 0.925 | 0.120 | X | 74525834 | missense variant | C/T | snv | 3 | |||
rs122455132 | 0.925 | 0.200 | X | 74529232 | missense variant | T/C | snv | 2 | |||
rs587784383 | 1.000 | 0.120 | X | 74524762 | missense variant | G/A | snv | 2 | |||
rs113994162 | 1.000 | 0.120 | X | 74421996 | missense variant | C/T | snv | 1 | |||
rs797045965 | 1.000 | 0.120 | X | 74421891 | frameshift variant | C/- | delins | 1 | |||
rs797045966 | 1.000 | 0.120 | X | 74422011 | frameshift variant | A/- | del | 1 | |||
rs104894931 | 1.000 | 0.120 | X | 74529355 | missense variant | T/C | snv | 1 | |||
rs104894936 | 1.000 | 0.120 | X | 74521008 | missense variant | C/A;T | snv | 1 | |||
rs104894938 | 1.000 | 0.120 | X | 74531414 | missense variant | T/C;G | snv | 1 | |||
rs104894939 | 1.000 | 0.120 | X | 74525802 | missense variant | T/G | snv | 1 | |||
rs104894940 | 1.000 | 0.120 | X | 74525844 | stop gained | C/A | snv | 1 | |||
rs113994164 | 1.000 | 0.120 | X | 74529317 | inframe deletion | TTC/- | delins | 1 | |||
rs113994166 | 1.000 | 0.120 | X | 74531545 | frameshift variant | C/- | delins | 1 | |||
rs1363308293 | 1.000 | 0.120 | X | 74529432 | missense variant | C/T | snv | 1 | |||
rs1555989364 | 1.000 | 0.120 | X | 74520993 | stop gained | G/A | snv | 1 | |||
rs1555989375 | 1.000 | 0.120 | X | 74521087 | frameshift variant | G/- | delins | 1 | |||
rs1555989729 | 1.000 | 0.120 | X | 74524810 | splice donor variant | G/T | snv | 1 | |||
rs1555989846 | 1.000 | 0.120 | X | 74525894 | splice region variant | AGTG/- | delins | 1 | |||
rs367543059 | 1.000 | 0.120 | X | 74529295 | missense variant | T/C | snv | 1 | |||
rs373279555 | 1.000 | 0.120 | X | 74521007 | missense variant | G/A | snv | 5.5E-06 | 1 | ||
rs387906501 | 1.000 | 0.120 | X | 74521020 | inframe deletion | TCT/- | delins | 1 | |||
rs398124232 | 1.000 | 0.120 | X | 74524430 | missense variant | C/T | snv | 1 | |||
rs587784382 | 1.000 | 0.120 | X | 74524699 | stop gained | C/T | snv | 1 | |||
rs727504155 | 1.000 | 0.120 | X | 74524373 | missense variant | G/A | snv | 1 | |||
rs766773277 | 1.000 | 0.120 | X | 74524723 | stop gained | C/A;T | snv | 1.6E-05 | 1 |