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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.960 | 25 | 2000 | 2019 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 0.905 | 21 | 1996 | 2018 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 1.000 | 15 | 2004 | 2018 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.100 | 0.909 | 11 | 1996 | 2009 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 1.000 | 11 | 2000 | 2019 | |||||
|
10 | 0.807 | 0.240 | 16 | 56899607 | missense variant | G/A | snv | 0.11 | 8.4E-02 | 0.070 | 1.000 | 7 | 2003 | 2019 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.070 | 0.714 | 7 | 2007 | 2017 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.060 | 0.667 | 6 | 2007 | 2012 | |||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.050 | 1.000 | 5 | 2013 | 2015 | ||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.050 | 0.800 | 5 | 1996 | 2019 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.050 | 1.000 | 5 | 2006 | 2018 | |||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.030 | 1.000 | 3 | 2013 | 2019 | |||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.030 | 1.000 | 3 | 2004 | 2007 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.030 | 1.000 | 3 | 2010 | 2015 | |||||
|
3 | 0.925 | 0.160 | 7 | 36878390 | intron variant | C/T | snv | 0.59 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.160 | 10 | 67900736 | intron variant | G/A | snv | 7.1E-02 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
7 | 0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
3 | 0.882 | 0.160 | 13 | 109599813 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
5 | 0.851 | 0.240 | 13 | 40565740 | intron variant | G/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
10 | 0.790 | 0.320 | 17 | 63473168 | upstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 0.500 | 2 | 2015 | 2019 |