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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.100 | 1.000 | 19 | 2015 | 2020 | |||
|
1 | 1.000 | 0.040 | 11 | 130196396 | missense variant | G/A | snv | 2.1E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.080 | 19 | 58513279 | upstream gene variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 22 | 43958231 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.080 | 22 | 43995806 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
15 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.040 | 4 | 23824109 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.925 | 0.040 | 3 | 12434028 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
6 | 0.807 | 0.240 | 22 | 46219983 | missense variant | T/A;C | snv | 4.0E-06; 1.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.100 | 0.944 | 89 | 2009 | 2020 | |||
|
10 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.710 | 1.000 | 2 | 2012 | 2018 | ||||
|
4 | 0.851 | 0.080 | 22 | 43940218 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 22 | 43946236 | missense variant | A/G | snv | 0.68 | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 55052343 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
12 | 0.790 | 0.360 | 19 | 19219115 | missense variant | C/A;T | snv | 2.8E-05; 5.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
25 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.851 | 0.120 | 11 | 71483513 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 |