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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||||
|
16 | 0.776 | 0.360 | 13 | 50945445 | missense variant | G/A | snv | 1.4E-03 | 1.4E-03 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.280 | 6 | 135404951 | frameshift variant | T/- | delins | 5.9E-04 | 4.9E-05 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.200 | 17 | 61966645 | stop gained | G/A;C;T | snv | 4.3E-06; 4.3E-05 | 0.700 | 0 | |||||||
|
34 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.240 | 15 | 42399616 | missense variant | C/T | snv | 4.0E-06; 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
54 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | X | 123428020 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
20 | 0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
14 | 0.851 | 0.240 | 11 | 686925 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
58 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.827 | 0.160 | 20 | 63490712 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
46 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.925 | 0.080 | 11 | 13297040 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
3 | 1 | 7790021 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.925 | 0.080 | 11 | 13369313 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 1.000 | 0.040 | 11 | 13374619 | intron variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.851 | 0.120 | 9 | 84667612 | upstream gene variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 12 | 56428321 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 11 | 13280374 | intron variant | G/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 |