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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.925 | 0.080 | 11 | 13324747 | intron variant | T/C | snv | 0.62 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
6 | 0.925 | 0.080 | 11 | 13297040 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
3 | 1 | 7790021 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.925 | 0.080 | 11 | 13369313 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 1.000 | 0.040 | 11 | 13374619 | intron variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 11 | 13280374 | intron variant | G/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 11 | 13328584 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.925 | 0.080 | 11 | 13363769 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 4 | 55440643 | intron variant | A/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 1.000 | 0.080 | 7 | 22721094 | intron variant | A/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.851 | 0.120 | 22 | 41381096 | intron variant | G/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.080 | 13 | 33050369 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.925 | 0.080 | 6 | 104416939 | intergenic variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.827 | 0.240 | 1 | 183220922 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
25 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.080 | 12 | 56428321 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.925 | 0.080 | 3 | 38555664 | missense variant | G/A | snv | 5.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 |