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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 1.000 | 20 | 2005 | 2019 | ||||
|
4 | 0.882 | 0.120 | 12 | 674318 | downstream gene variant | G/A;C | snv | 0.100 | 0.857 | 14 | 2009 | 2019 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.909 | 11 | 2006 | 2018 | |||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.090 | 0.778 | 9 | 2001 | 2013 | ||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.060 | 0.833 | 6 | 2006 | 2018 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.060 | 0.833 | 6 | 2007 | 2019 | ||||
|
2 | 1.000 | 0.080 | 13 | 30734192 | intron variant | T/A;G | snv | 0.040 | 0.750 | 4 | 2011 | 2019 | |||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.040 | 1.000 | 4 | 2006 | 2019 | ||||
|
2 | 1.000 | 0.080 | 6 | 39302834 | intron variant | C/A | snv | 0.030 | 1.000 | 3 | 2010 | 2014 | |||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2014 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.030 | < 0.001 | 3 | 2006 | 2015 | |||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2006 | 2019 | |||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.030 | 0.667 | 3 | 2006 | 2015 | |||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.030 | 1.000 | 3 | 2008 | 2017 | ||||
|
3 | 0.925 | 0.080 | 22 | 46390418 | missense variant | T/A;C | snv | 4.0E-06; 0.17 | 0.030 | 1.000 | 3 | 2009 | 2015 | ||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.720 | 1.000 | 3 | 2013 | 2018 | |||||
|
13 | 0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv | 0.720 | 0.667 | 3 | 2016 | 2018 | |||||
|
20 | 0.724 | 0.280 | 6 | 6318562 | missense variant | C/A;T | snv | 0.20; 2.4E-05 | 0.030 | 1.000 | 3 | 2002 | 2016 | ||||
|
10 | 0.827 | 0.120 | 4 | 154586438 | missense variant | T/A;C | snv | 0.29 | 0.030 | 0.667 | 3 | 2013 | 2016 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.030 | 0.667 | 3 | 1999 | 2005 | |||||
|
6 | 0.851 | 0.160 | 13 | 30736442 | intron variant | G/A;T | snv | 0.030 | 1.000 | 3 | 2007 | 2016 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
8 | 0.790 | 0.280 | 14 | 35292469 | 5 prime UTR variant | C/G;T | snv | 0.19; 4.0E-06 | 0.020 | 0.500 | 2 | 2009 | 2013 | ||||
|
11 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.020 | 1.000 | 2 | 2017 | 2019 |