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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.030 | 1.000 | 3 | 2007 | 2013 | |||||
|
20 | 0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.080 | 15 | 78565597 | 5 prime UTR variant | T/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.763 | 0.280 | 15 | 44711548 | start lost | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.708 | 0.280 | 17 | 7673782 | missense variant | T/C;G | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 2 | 201287058 | 3 prime UTR variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 31093784 | regulatory region variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 11 | 8465623 | non coding transcript exon variant | T/C | snv | 7.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 7770278 | intron variant | T/C | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.724 | 0.360 | 17 | 7675124 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 10 | 22643219 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 122838470 | intron variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.080 | 22 | 29941597 | intron variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.080 | 21 | 36071595 | intron variant | T/C | snv | 0.74 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.080 | 7 | 55174777 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.807 | 0.160 | 10 | 113729830 | 3 prime UTR variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
24 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 14 | 89956320 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.030 | 1.000 | 3 | 2007 | 2013 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 |