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 | 1.000 | 0.040 | 5 | 70070732 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.925 | 0.080 | 1 | 226881960 | missense variant | C/T | snv | 1.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.030 | 0.667 | 3 | 2012 | 2019 | ||||
|
2 | 1.000 | 0.080 | 8 | 53777725 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 20 | 58444203 | missense variant | G/A | snv | 5.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
25 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
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 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.100 | 1.000 | 10 | 2006 | 2018 | |||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2006 | 2011 | |||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.160 | 4 | 169585374 | missense variant | C/A;T | snv | 6.0E-05; 2.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 20 | 63962894 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.925 | 0.080 | 17 | 45994485 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 17 | 45985878 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 10 | 30313926 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.030 | 1.000 | 3 | 2006 | 2016 | ||||
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 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 | 2006 | 2014 | |||
|
7 | 0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.040 | 5 | 150733475 | start lost | T/C;G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 4 | 89754087 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 20 | 63930873 | missense variant | T/A;G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
3 | 0.925 | 0.040 | 4 | 41256996 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |