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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.742 | 0.280 | 18 | 63153338 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 6 | 151926017 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2006 | 2008 | |||||
|
3 | 0.882 | 0.120 | 21 | 26112051 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
33 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.020 | 0.500 | 2 | 2014 | 2015 | ||||
|
6 | 0.851 | 0.240 | 15 | 89323504 | missense variant | C/A;T | snv | 8.0E-06; 9.7E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 17 | 44352061 | missense variant | C/A;T | snv | 7.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.120 | X | 56565363 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
13 | 0.732 | 0.160 | 14 | 73219177 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 6 | 41159841 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 1.000 | 2 | 2010 | 2011 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||
|
5 | 0.827 | 0.080 | 1 | 226885546 | missense variant | C/G;T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2003 | 2005 | ||||
|
8 | 0.776 | 0.120 | 14 | 73170945 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.020 | 1.000 | 2 | 2007 | 2016 | ||||
|
10 | 0.790 | 0.320 | 17 | 63473168 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.807 | 0.200 | 19 | 44905910 | missense variant | C/G;T | snv | 0.60 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 21 | 25891761 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
13 | 0.742 | 0.280 | 21 | 25891856 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
6 | 0.807 | 0.120 | 1 | 11016874 | missense variant | C/G;T | snv | 8.0E-06; 2.2E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.080 | 8 | 27610169 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.060 | 1.000 | 6 | 2011 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.060 | 1.000 | 6 | 2011 | 2019 |