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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.100 | 0.833 | 18 | 2001 | 2017 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.778 | 18 | 2002 | 2013 | |||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.100 | 0.727 | 11 | 2004 | 2019 | ||||
|
14 | 0.724 | 0.160 | 2 | 48963902 | missense variant | C/G;T | snv | 4.0E-06; 0.55 | 0.100 | 0.700 | 10 | 2001 | 2017 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.090 | 0.444 | 9 | 2007 | 2017 | |||||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.080 | 0.875 | 8 | 2001 | 2016 | ||||
|
10 | 0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv | 0.060 | 1.000 | 6 | 2001 | 2016 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.060 | 1.000 | 6 | 2010 | 2019 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.050 | 0.600 | 5 | 2015 | 2019 | |||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.040 | 0.750 | 4 | 2010 | 2012 | ||||
|
7 | 0.851 | 0.200 | 19 | 7166098 | intron variant | A/G;T | snv | 0.830 | 0.500 | 4 | 2011 | 2020 | |||||
|
1 | 1.000 | 0.120 | 12 | 56769532 | intron variant | C/G;T | snv | 0.040 | 0.250 | 4 | 2006 | 2015 | |||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.030 | 0.667 | 3 | 2015 | 2019 | |||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.030 | 1.000 | 3 | 2014 | 2015 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.030 | 1.000 | 3 | 2013 | 2018 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2012 | 2019 | |||||
|
24 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.030 | 0.667 | 3 | 2000 | 2011 | ||||
|
10 | 0.752 | 0.440 | 1 | 9263851 | missense variant | G/A;C | snv | 0.28; 1.2E-04 | 0.030 | 1.000 | 3 | 2005 | 2015 | ||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 2003 | 2014 | ||||
|
1 | 1.000 | 0.120 | 11 | 102172509 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||
|
4 | 0.882 | 0.120 | 6 | 32977847 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.020 | < 0.001 | 2 | 2007 | 2008 | ||||
|
21 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2018 |