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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 5 | 70946157 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 1.000 | 0.040 | 5 | 70070732 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
11 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 0.020 | 1.000 | 2 | 2002 | 2014 | |||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2002 | 2003 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2002 | 2003 | |||||
|
8 | 0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
8 | 0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.925 | 0.080 | 21 | 31663832 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2016 | |||
|
7 | 0.827 | 0.120 | 17 | 45996657 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
6 | 0.827 | 0.120 | 14 | 73186920 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
14 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.100 | 1.000 | 10 | 2006 | 2018 | |||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.030 | 1.000 | 3 | 2006 | 2016 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2006 | 2011 | |||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
2 | 1.000 | 0.080 | 19 | 53906776 | missense variant | C/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.851 | 0.200 | 14 | 92096772 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
6 | 0.882 | 0.160 | 14 | 20472447 | missense variant | G/A | snv | 0.19 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.882 | 0.080 | 14 | 89993420 | missense variant | A/G | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
7 | 0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.827 | 0.120 | 17 | 44352404 | stop gained | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 1 | 11022556 | missense variant | A/G | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.050 | 1.000 | 5 | 2010 | 2016 |