Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11053646 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 18 | |
rs1057519647 | 1.000 | 0.080 | 19 | 11089381 | upstream gene variant | A/G | snv | 1 | |||
rs1057519648 | 1.000 | 0.080 | 19 | 11089394 | upstream gene variant | ACCCCA/- | del | 1 | |||
rs879254366 | 1.000 | 0.080 | 19 | 11089396 | upstream gene variant | C/T | snv | 2.1E-05 | 2 | ||
rs879254368 | 1.000 | 0.080 | 19 | 11089400 | upstream gene variant | C/A | snv | 2 | |||
rs875989887 | 0.925 | 0.080 | 19 | 11089409 | upstream gene variant | C/A;G;T | snv | 3 | |||
rs387906307 | 0.925 | 0.080 | 19 | 11089411 | upstream gene variant | T/- | del | 2 | |||
rs879254375 | 0.925 | 0.080 | 19 | 11089414 | upstream gene variant | C/A;G | snv | 7.0E-06 | 4 | ||
rs1057519649 | 1.000 | 0.080 | 19 | 11089422 | upstream gene variant | -/A | delins | 1 | |||
rs1057519650 | 1.000 | 0.080 | 19 | 11089450 | upstream gene variant | A/G | snv | 1 | |||
rs879254383 | 0.882 | 0.160 | 19 | 11089551 | start lost | G/A;T | snv | 4 | |||
rs201016593 | 0.925 | 0.080 | 19 | 11089559 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
rs756039188 | 0.925 | 0.080 | 19 | 11089560 | stop gained | G/A | snv | 4.0E-06 | 4 | ||
rs774615547 | 1.000 | 0.080 | 19 | 11089562 | frameshift variant | -/TTCCT | delins | 4.0E-06 | 1 | ||
rs879254386 | 0.925 | 0.080 | 19 | 11089576 | missense variant | T/A;C | snv | 4 | |||
rs879254388 | 0.925 | 0.080 | 19 | 11089588 | frameshift variant | T/-;TT | delins | 4 | |||
rs879254390 | 0.925 | 0.080 | 19 | 11089592 | missense variant | T/A;C | snv | 2 | |||
rs879254394 | 0.925 | 0.080 | 19 | 11089617 | splice donor variant | T/A | snv | 4 | |||
rs879254396 | 0.925 | 0.080 | 19 | 11100221 | splice acceptor variant | A/G;T | snv | 3 | |||
rs879254397 | 0.925 | 0.080 | 19 | 11100222 | splice acceptor variant | G/A;C | snv | 2 | |||
rs2228671 | 0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 | 14 | ||
rs776421777 | 0.882 | 0.160 | 19 | 11100246 | stop gained | G/A;T | snv | 2.4E-05 | 5 | ||
rs121908024 | 0.925 | 0.080 | 19 | 11100252 | stop gained | C/T | snv | 8.0E-06 | 4 | ||
rs879254405 | 0.882 | 0.160 | 19 | 11100255 | missense variant | T/G | snv | 5 | |||
rs751317621 | 0.925 | 0.080 | 19 | 11100281 | stop gained | C/A;G;T | snv | 4.0E-06 | 2 |