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 | 6 | 162379633 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
21 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.120 | 8 | 71271753 | splice region variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
32 | 0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.020 | 1.000 | 2 | 2004 | 2017 | |||
|
8 | 0.851 | 0.120 | 10 | 129963375 | frameshift variant | TCTC/- | del | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.320 | 12 | 6944474 | splice acceptor variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.827 | 0.280 | 2 | 222623699 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.827 | 0.160 | 10 | 75024984 | frameshift variant | GGGT/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 12 | 116008442 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
17 | 0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.440 | X | 53537626 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
48 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | |||||||
|
57 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.280 | 14 | 60648629 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.080 | X | 41344278 | missense variant | G/A | snv | 0.700 | 0 |