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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
3 | 0.882 | 0.160 | 5 | 74713584 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.882 | 0.160 | 16 | 89510539 | stop gained | T/A | snv | 4.2E-04 | 1.8E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.160 | 6 | 42722199 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.160 | 16 | 89553853 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.080 | 21 | 45509554 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.080 | 12 | 88102888 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.742 | 0.320 | 11 | 31789935 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
40 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
13 | 0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
18 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
50 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.400 | 11 | 72302312 | stop gained | G/A;C;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
38 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
27 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
36 | 0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
26 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.280 | 17 | 80210679 | stop gained | GGAGGTCCTTG/- | del | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 8 | 93765413 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
8 | 0.851 | 0.120 | 16 | 1706450 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
37 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
37 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.120 | X | 154191716 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |