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 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2007 | 2008 | |||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.050 | 1.000 | 5 | 2008 | 2019 | |||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
30 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
17 | 0.708 | 0.120 | 17 | 44352876 | 3 prime UTR variant | C/T | snv | 0.41 | 0.040 | 0.750 | 4 | 2009 | 2015 | ||||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.040 | 1.000 | 4 | 2011 | 2015 | ||||
|
25 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.763 | 0.280 | 12 | 117330794 | synonymous variant | G/A | snv | 2.8E-05 | 4.2E-05 | 0.020 | 1.000 | 2 | 2008 | 2009 | |||
|
14 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
12 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.776 | 0.200 | 9 | 35065351 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
7 | 0.807 | 0.200 | 17 | 30237299 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
6 | 0.807 | 0.360 | 12 | 117268082 | synonymous variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.120 | 6 | 41161367 | missense variant | G/A;C;T | snv | 1.9E-04; 1.0E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.160 | 3 | 87253472 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
6 | 0.827 | 0.120 | 17 | 44352404 | stop gained | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.120 | 17 | 44350293 | missense variant | T/C | snv | 1.8E-04 | 1.1E-04 | 0.020 | 1.000 | 2 | 2014 | 2018 | |||
|
5 | 0.851 | 0.120 | 1 | 11022196 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |