Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587778967 | 0.925 | 0.200 | 3 | 36993548 | start lost | A/C;G | snv | 8 | |||
rs1114167806 | 0.827 | 0.200 | 2 | 47463096 | stop gained | ATGA/-;ATGAATGA | delins | 7 | |||
rs63749843 | 0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv | 7 | |||
rs63751108 | 0.827 | 0.240 | 2 | 47429881 | stop gained | C/T | snv | 7 | |||
rs267607940 | 0.851 | 0.240 | 2 | 47416430 | splice donor variant | G/A;T | snv | 6 | |||
rs587779157 | 0.827 | 0.240 | 2 | 47408486 | inframe deletion | GAAGTT/- | delins | 6 | |||
rs63749849 | 0.851 | 0.240 | 2 | 47429812 | stop gained | C/T | snv | 6 | |||
rs63750193 | 0.851 | 0.160 | 3 | 37040276 | missense variant | T/C | snv | 6 | |||
rs63750508 | 0.851 | 0.240 | 2 | 47475126 | stop gained | C/G;T | snv | 6 | |||
rs63750610 | 0.851 | 0.240 | 3 | 37048563 | missense variant | C/G;T | snv | 6 | |||
rs63750624 | 0.925 | 0.160 | 2 | 47410211 | missense variant | G/A | snv | 6 | |||
rs63750636 | 0.851 | 0.240 | 2 | 47476492 | stop gained | C/T | snv | 7.0E-06 | 6 | ||
rs267607901 | 0.882 | 0.160 | 3 | 37050633 | frameshift variant | AA/-;A;AAAA | delins | 5 | |||
rs587779067 | 0.882 | 0.200 | 2 | 47416399 | missense variant | C/G;T | snv | 5 | |||
rs587779075 | 0.882 | 0.200 | 2 | 47429830 | stop gained | C/T | snv | 5 | |||
rs63750086 | 0.882 | 0.200 | 2 | 47429891 | frameshift variant | AG/- | del | 5 | |||
rs63750398 | 0.925 | 0.160 | 2 | 47476451 | missense variant | G/A;T | snv | 5 | |||
rs63750453 | 0.882 | 0.160 | 3 | 37001051 | missense variant | G/A | snv | 5 | |||
rs63751202 | 0.851 | 0.160 | 3 | 37048578 | missense variant | T/C;G | snv | 5 | |||
rs267607713 | 0.882 | 0.160 | 3 | 36996623 | splice acceptor variant | G/C | snv | 4 | |||
rs267607943 | 0.925 | 0.160 | 2 | 47429740 | splice acceptor variant | A/C;G;T | snv | 4 | |||
rs267607969 | 0.925 | 0.160 | 2 | 47466809 | splice donor variant | G/A;T | snv | 4 | |||
rs28929483 | 0.925 | 0.160 | 2 | 47475130 | missense variant | C/A;G;T | snv | 4 | |||
rs587779163 | 0.882 | 0.160 | 2 | 47410220 | missense variant | T/G | snv | 4 | |||
rs587779185 | 0.925 | 0.160 | 2 | 47414284 | frameshift variant | TCTG/- | delins | 4 |