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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.850 | 0.800 | 5 | 1995 | 2009 | |||
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.700 | 0 | |||||||
|
14 | 0.742 | 0.240 | 8 | 19948197 | missense variant | G/A;C | snv | 1.4E-02; 2.0E-05 | 0.700 | 0 | |||||||
|
11 | 0.763 | 0.280 | 1 | 161039733 | 3 prime UTR variant | G/A | snv | 0.21 | 0.050 | 1.000 | 5 | 2005 | 2009 | ||||
|
4 | 0.882 | 0.200 | 1 | 161040972 | intron variant | C/T | snv | 0.21 | 0.030 | 1.000 | 3 | 2005 | 2012 | ||||
|
5 | 0.827 | 0.320 | 19 | 47341767 | missense variant | G/A;C;T | snv | 4.0E-06; 9.6E-05 | 0.020 | 0.500 | 2 | 2006 | 2011 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
9 | 0.807 | 0.160 | 8 | 19954279 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.882 | 0.080 | 19 | 44908786 | missense variant | A/C;G | snv | 6.5E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 19 | 11106580 | missense variant | G/A | snv | 4.4E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
11 | 0.851 | 0.200 | 7 | 73568544 | 3 prime UTR variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
4 | 0.851 | 0.120 | 2 | 21003286 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1989 | 1989 | |||
|
3 | 0.925 | 0.200 | 6 | 32221166 | missense variant | G/A | snv | 4.7E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.925 | 0.080 | 11 | 68678956 | upstream gene variant | C/T | snv | 0.84 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 1 | 231405228 | intron variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
19 | 0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 11 | 35189859 | missense variant | G/A;T | snv | 2.8E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.763 | 0.240 | 7 | 73606007 | missense variant | C/G | snv | 0.10 | 9.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.120 | 15 | 58541794 | missense variant | G/A;T | snv | 7.1E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 |