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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
22 | 0.724 | 0.360 | 17 | 42543840 | missense variant | A/G | snv | 5.4E-05 | 1.3E-04 | 0.700 | 0 | ||||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
13 | 0.827 | 0.160 | 17 | 44212851 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
20 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
19 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
15 | 0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
21 | 0.732 | 0.360 | 17 | 42543921 | stop gained | G/A;C;T | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
12 | 0.851 | 0.080 | 16 | 57654103 | frameshift variant | CAGGACC/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.080 | X | 48902391 | frameshift variant | AGAG/-;AG;AGAGAG | delins | 0.700 | 0 | ||||||||
|
33 | 0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.080 | 2 | 165313738 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 12 | 112489093 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
5 | 0.851 | 0.160 | 12 | 112489093 | missense variant | AG/CC | mnv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
19 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.020 | 1.000 | 2 | 2003 | 2005 | ||||
|
2 | 17 | 63496977 | missense variant | C/T | snv | 3.7E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
4 | 0.925 | 0.080 | 10 | 111078794 | missense variant | C/G;T | snv | 1.9E-03 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
11 | 0.807 | 0.160 | 13 | 46835532 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.851 | 0.080 | 19 | 53891711 | missense variant | T/A;C | snv | 4.0E-06; 0.41 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 19 | 53888383 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2008 | |||
|
3 | 18 | 11774501 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2008 | 2008 |