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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
48 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
14 | 0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.160 | 19 | 7184524 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.240 | 17 | 7222272 | missense variant | T/C | snv | 1.3E-03 | 1.1E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.851 | 0.080 | 17 | 63533914 | missense variant | C/G;T | snv | 8.0E-06; 6.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 17 | 19560030 | intron variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.080 | 17 | 42909364 | stop gained | C/T | snv | 2.8E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
8 | 0.807 | 0.240 | 17 | 42903947 | missense variant | C/T | snv | 5.7E-04 | 3.4E-04 | 0.700 | 0 | ||||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.200 | 12 | 120994265 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2011 | 2011 | |||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
4 | 0.882 | 0.160 | 12 | 120738280 | missense variant | G/A | snv | 0.26 | 0.21 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
15 | 0.763 | 0.360 | 12 | 20858546 | missense variant | T/C;G | snv | 0.81 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.040 | 0.500 | 4 | 2005 | 2019 | ||||
|
5 | 0.851 | 0.080 | 11 | 17395658 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.120 | 11 | 17395664 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.160 | 11 | 17387907 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
12 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
12 | 0.851 | 0.320 | 11 | 17453271 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.040 | 10 | 87053380 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2006 | 2014 |