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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.200 | 4 | 186073024 | intron variant | G/A | snv | 0.21 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | < 0.001 | 2 | 2013 | 2019 | |||||
|
6 | 0.827 | 0.280 | 4 | 122408207 | intron variant | G/A | snv | 0.20 | 0.020 | 0.500 | 2 | 2010 | 2019 | ||||
|
6 | 0.851 | 0.240 | 6 | 53545239 | intron variant | G/A;T | snv | 6.2E-02 | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
10 | 0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 | 0.800 | 1.000 | 2 | 2007 | 2015 | ||||
|
9 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.810 | 1.000 | 2 | 2009 | 2016 | ||||
|
17 | 0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 | 0.710 | 1.000 | 2 | 2007 | 2010 | ||||
|
6 | 0.827 | 0.360 | 15 | 78943104 | intron variant | T/C | snv | 0.50 | 0.800 | 1.000 | 2 | 2008 | 2009 | ||||
|
9 | 0.776 | 0.280 | 10 | 6052734 | intron variant | C/T | snv | 5.7E-02 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
41 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 0.710 | 1.000 | 2 | 2011 | 2015 | ||||
|
4 | 0.882 | 0.200 | 9 | 4291747 | intron variant | C/A;G | snv | 0.810 | 0.500 | 2 | 2009 | 2017 | |||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.020 | 0.500 | 2 | 2012 | 2019 | |||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.020 | 0.500 | 2 | 2006 | 2019 | |||||
|
1 | 1.000 | 0.120 | 14 | 100839708 | intron variant | A/G | snv | 0.45 | 0.820 | 1.000 | 2 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.120 | 4 | 174733072 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 7 | 94402493 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 7 | 50961290 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 4 | 26083889 | intron variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 10 | 98540425 | intron variant | C/T | snv | 0.40 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 9 | 16789026 | intron variant | C/T | snv | 0.85 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 1 | 32262639 | intron variant | C/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 |