Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 1 | 17023994 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027790 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17024013 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17044820 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027848 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018936 | frameshift variant | -/AGCT | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018938 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17024007 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027784 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17044756 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018943 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17028623 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 17023999 | frameshift variant | ATTTGTCTCC/- | del | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 1 | 17024025 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.080 | 1 | 17044882 | stop gained | G/A;C | snv | 8.0E-06; 4.4E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 1 | 17022723 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 17028649 | stop gained | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 17033135 | frameshift variant | -/G | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 1 | 17033125 | missense variant | T/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 1 | 17044835 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 | 0.700 | 1.000 | 17 | 2005 | 2018 | ||||
|
7 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 16 | 2003 | 2016 | ||||
|
6 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 2003 | 2016 |