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 | 0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
12 | 0.807 | 0.440 | 16 | 89284635 | frameshift variant | GTTTT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.280 | 10 | 49627681 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1.000 | 0.040 | 2 | 232535143 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.040 | 2 | 232531353 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
58 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 | 0.700 | 0 | ||||||
|
13 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
59 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||
|
24 | 0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.160 | 11 | 68906074 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
16 | 0.776 | 0.240 | 15 | 89649836 | missense variant | T/G | snv | 1.3E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
26 | 0.742 | 0.280 | 7 | 23165737 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
12 | 0.851 | 0.160 | 12 | 25227349 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
17 | 0.752 | 0.320 | 12 | 25245277 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
14 | 0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
28 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
27 | 0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
48 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | |||||||
|
22 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 |