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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 4 | 41256996 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2016 | |||
|
3 | 0.925 | 0.080 | 5 | 70946157 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
8 | 0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.080 | 14 | 89993420 | missense variant | A/G | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 1.000 | 0.080 | 1 | 27283372 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 5 | 70070732 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
14 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 1.000 | 0.080 | 7 | 76054974 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 1 | 11022556 | missense variant | A/G | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
25 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 4 | 89754087 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 0.020 | 1.000 | 2 | 2002 | 2014 | |||||
|
28 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
10 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.080 | 19 | 53906776 | missense variant | C/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 1.000 | 0.080 | 8 | 53777725 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.763 | 0.200 | 9 | 35065363 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |