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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 15 | 89631647 | missense variant | C/T | snv | 1.2E-04 | 5.6E-04 | 0.700 | 1.000 | 3 | 2011 | 2015 | |||
|
3 | 0.882 | 0.080 | 15 | 89649809 | missense variant | C/T | snv | 1.1E-04 | 5.2E-04 | 0.700 | 1.000 | 3 | 2011 | 2015 | |||
|
2 | 0.925 | 0.120 | 15 | 89631625 | missense variant | T/C | snv | 1.6E-03 | 2.0E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 15 | 89645040 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 15 | 89646974 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 15 | 89649842 | inframe deletion | ATGTAC/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 15 | 89631689 | stop gained | G/A;C | snv | 1.2E-05; 1.1E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 15 | 89631605 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 15 | 89633269 | splice region variant | G/C | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 15 | 89631662 | stop gained | C/A | snv | 5.9E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.160 | 15 | 89652864 | stop gained | G/A | snv | 6.8E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 89649810 | stop gained | G/A;C | snv | 6.4E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 89652774 | stop gained | G/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 15 | 89631709 | frameshift variant | GC/- | del | 6.5E-06 | 6.3E-05 | 0.700 | 0 | ||||||
|
16 | 0.776 | 0.240 | 15 | 89649836 | missense variant | T/G | snv | 1.3E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 89649309 | frameshift variant | -/A | delins | 7.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 89649210 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 89629123 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 4 | 2009 | 2015 | |||||
|
1 | 1.000 | 0.080 | 15 | 89629527 | stop gained | G/A;C;T | snv | 2.0E-05; 3.2E-05; 4.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||
|
14 | 0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.280 | 15 | 89630426 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |