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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.120 | 1 | 40091398 | missense variant | T/A | snv | 7.0E-04 | 6.0E-04 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.120 | 11 | 6617040 | stop gained | G/A | snv | 2.2E-04 | 2.4E-04 | 0.700 | 1.000 | 5 | 1997 | 2013 | |||
|
2 | 0.925 | 0.120 | 13 | 76996010 | stop gained | C/T | snv | 2.0E-05 | 7.7E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.120 | 1 | 40092409 | missense variant | T/G | snv | 1.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.120 | 11 | 6616056 | missense variant | C/T | snv | 1.6E-05 | 4.9E-05 | 0.700 | 1.000 | 3 | 1998 | 2015 | |||
|
3 | 0.882 | 0.120 | 11 | 6617627 | stop gained | G/A | snv | 6.4E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 1759569 | missense variant | G/A | snv | 4.0E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 13 | 76996086 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 3 | 2009 | 2015 | |||
|
2 | 0.925 | 0.120 | 11 | 6616720 | missense variant | T/A | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 4 | 127938781 | splice donor variant | A/T | snv | 8.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 13 | 77000845 | frameshift variant | AACA/- | delins | 2.8E-05 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
2 | 0.925 | 0.120 | 16 | 28482160 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 6 | 1997 | 2013 | |||
|
2 | 0.925 | 0.120 | 15 | 68218584 | stop gained | G/C | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 6615442 | missense variant | C/G | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 6615199 | missense variant | A/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 1 | 40092462 | frameshift variant | -/T | delins | 3.2E-05; 4.0E-06; 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 16 | 28489298 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.120 | 7 | 66633302 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 11 | 6616374 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 15 | 68208280 | inframe deletion | GAG/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 1 | 40097236 | start lost | C/T | snv | 1.4E-05 | 0.700 | 1.000 | 5 | 1998 | 2007 | ||||
|
2 | 0.925 | 0.120 | 16 | 28487492 | frameshift variant | C/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 1997 | 2010 | |||
|
1 | 1.000 | 0.120 | 11 | 6618823 | missense variant | A/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 11 | 6616696 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 16 | 28486401 | frameshift variant | -/A | delins | 1.2E-05 | 7.0E-06 | 0.700 | 0 |