Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs63750875 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 15 | ||
rs121434629 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 13 | ||
rs587779333 | 0.851 | 0.200 | 7 | 6009019 | start lost | T/A;C;G | snv | 4.0E-06; 2.8E-05 | 10 | ||
rs63750217 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 10 | |||
rs200640585 | 0.790 | 0.280 | 7 | 5992018 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 9 | |
rs63750206 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 9 | |||
rs63750250 | 0.807 | 0.280 | 7 | 5986933 | frameshift variant | -/T | delins | 1.6E-05 | 4.2E-05 | 9 | |
rs587778617 | 0.807 | 0.240 | 7 | 5987504 | stop gained | G/A | snv | 7.0E-06 | 8 | ||
rs63749795 | 0.807 | 0.240 | 3 | 37028833 | stop gained | C/T | snv | 8 | |||
rs63749993 | 0.882 | 0.200 | 2 | 47476424 | missense variant | T/G | snv | 8 | |||
rs63750741 | 0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 | 8 | ||
rs267608150 | 0.851 | 0.320 | 7 | 5997388 | stop gained | AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN | delins | 7 | |||
rs587779338 | 0.851 | 0.200 | 7 | 5977589 | missense variant | G/A | snv | 1.0E-05 | 2.1E-05 | 7 | |
rs587779340 | 0.882 | 0.200 | 7 | 6003794 | splice acceptor variant | T/A;C;G | snv | 4.1E-06 | 7 | ||
rs63749843 | 0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv | 7 | |||
rs63750451 | 0.827 | 0.160 | 7 | 5986883 | stop gained | G/A;C | snv | 1.6E-05 | 7 | ||
rs63751108 | 0.827 | 0.240 | 2 | 47429881 | stop gained | C/T | snv | 7 | |||
rs63751194 | 0.851 | 0.160 | 3 | 37017508 | missense variant | C/A;T | snv | 4.0E-06 | 7 | ||
rs63751422 | 0.882 | 0.280 | 7 | 5986838 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs786201042 | 0.827 | 0.240 | 2 | 47783243 | stop gained | C/G;T | snv | 2.5E-05 | 7 | ||
rs143277125 | 0.851 | 0.160 | 7 | 5992012 | stop gained | G/A;T | snv | 4.0E-06 | 6 | ||
rs267607720 | 0.851 | 0.240 | 3 | 37000952 | splice region variant | C/G;T | snv | 6 | |||
rs267607768 | 0.851 | 0.240 | 3 | 37011867 | splice region variant | G/A;C | snv | 6 | |||
rs267607871 | 0.851 | 0.240 | 3 | 37048515 | splice acceptor variant | A/G | snv | 4.0E-06 | 6 | ||
rs267607940 | 0.851 | 0.240 | 2 | 47416430 | splice donor variant | G/A;T | snv | 6 |