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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.100 | 1.000 | 35 | 2006 | 2020 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.813 | 32 | 2000 | 2019 | |||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.100 | 0.882 | 17 | 2003 | 2019 | ||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.100 | 1.000 | 11 | 2009 | 2020 | ||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.090 | 1.000 | 9 | 2006 | 2016 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.090 | 0.889 | 9 | 2006 | 2016 | ||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.070 | 0.571 | 7 | 2001 | 2012 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.070 | 0.714 | 7 | 1999 | 2014 | ||||
|
12 | 0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv | 0.060 | 1.000 | 6 | 2011 | 2017 | |||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.050 | 1.000 | 5 | 2008 | 2019 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.050 | 1.000 | 5 | 1999 | 2014 | ||||
|
4 | 0.882 | 0.080 | 13 | 27920364 | missense variant | G/A;T | snv | 2.9E-03 | 0.040 | 0.750 | 4 | 1999 | 2004 | ||||
|
10 | 0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2003 | 2013 | |||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.030 | 1.000 | 3 | 1999 | 2010 | ||||
|
10 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 0.030 | 1.000 | 3 | 2011 | 2013 | |||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.030 | 1.000 | 3 | 2008 | 2017 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 0.667 | 3 | 2012 | 2017 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 1.000 | 3 | 2004 | 2018 | ||||
|
4 | 0.925 | 0.080 | 7 | 44151050 | missense variant | A/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 0.500 | 2 | 2016 | 2017 | ||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2000 | 2015 | |||||
|
5 | 0.851 | 0.080 | 20 | 44413714 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
7 | 0.807 | 0.240 | 4 | 15824935 | missense variant | C/A;T | snv | 8.0E-06; 4.4E-04 | 0.020 | 0.500 | 2 | 2001 | 2015 | ||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.020 | 1.000 | 2 | 2008 | 2014 |