Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1114167806 | 0.827 | 0.200 | 2 | 47463096 | stop gained | ATGA/-;ATGAATGA | delins | 7 | |||
rs63751108 | 0.827 | 0.240 | 2 | 47429881 | stop gained | C/T | snv | 7 | |||
rs587779157 | 0.827 | 0.240 | 2 | 47408486 | inframe deletion | GAAGTT/- | delins | 6 | |||
rs63750508 | 0.851 | 0.240 | 2 | 47475126 | stop gained | C/G;T | snv | 6 | |||
rs63750875 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 6 | ||
rs63749849 | 0.851 | 0.240 | 2 | 47429812 | stop gained | C/T | snv | 6 | |||
rs267607940 | 0.851 | 0.240 | 2 | 47416430 | splice donor variant | G/A;T | snv | 6 | |||
rs63750636 | 0.851 | 0.240 | 2 | 47476492 | stop gained | C/T | snv | 7.0E-06 | 6 | ||
rs63751207 | 0.851 | 0.240 | 2 | 47466718 | missense variant | G/A;C;T | snv | 8.0E-06 | 5 | ||
rs63749932 | 0.882 | 0.160 | 2 | 47476399 | stop gained | C/G;T | snv | 1.6E-05; 4.0E-06 | 5 | ||
rs63750086 | 0.882 | 0.200 | 2 | 47429891 | frameshift variant | AG/- | del | 5 | |||
rs587779190 | 0.851 | 0.240 | 2 | 47414344 | stop gained | G/C;T | snv | 4.0E-06 | 5 | ||
rs193922376 | 0.925 | 0.160 | 2 | 47414421 | splice region variant | A/G;T | snv | 3.3E-05 | 4 | ||
rs267607943 | 0.925 | 0.160 | 2 | 47429740 | splice acceptor variant | A/C;G;T | snv | 4 | |||
rs63751155 | 0.925 | 0.160 | 2 | 47478289 | stop gained | C/A;G;T | snv | 4 | |||
rs587779067 | 0.882 | 0.200 | 2 | 47416399 | missense variant | C/G;T | snv | 4 | |||
rs63749811 | 0.925 | 0.160 | 2 | 47476474 | frameshift variant | G/- | del | 4 | |||
rs63749831 | 0.925 | 0.160 | 2 | 47475051 | inframe deletion | AAT/- | del | 4.0E-06 | 4 | ||
rs63750843 | 0.925 | 0.240 | 2 | 47410235 | stop gained | C/G;T | snv | 1.6E-05 | 4 | ||
rs63750828 | 0.925 | 0.160 | 2 | 47416351 | missense variant | G/A | snv | 4 | |||
rs63751618 | 0.925 | 0.160 | 2 | 47480866 | frameshift variant | AG/- | delins | 4 | |||
rs63750398 | 0.925 | 0.160 | 2 | 47476451 | missense variant | G/A;T | snv | 4 | |||
rs63750934 | 0.882 | 0.160 | 2 | 47414368 | stop gained | C/T | snv | 4 | |||
rs587779198 | 0.925 | 0.160 | 2 | 47416294 | splice acceptor variant | A/G | snv | 4 | |||
rs587779075 | 0.882 | 0.200 | 2 | 47429830 | stop gained | C/T | snv | 4 |