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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
22 | 0.683 | 0.520 | 16 | 27362859 | missense variant | T/C | snv | 0.16 | 0.22 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
36 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
32 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
30 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
25 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
35 | 0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.732 | 0.320 | 14 | 55138217 | missense variant | C/A;G | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
42 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 0.050 | 0.800 | 5 | 2013 | 2017 | |||
|
7 | 0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.776 | 0.280 | 13 | 51944145 | missense variant | G/A;T | snv | 4.0E-06; 9.2E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
26 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
14 | 0.742 | 0.240 | 1 | 53909897 | intron variant | C/A;T | snv | 0.53; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
19 | 0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
23 | 0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.752 | 0.200 | 14 | 55138318 | missense variant | A/C | snv | 4.1E-06; 0.45 | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 |