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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
9 | 0.776 | 0.240 | 10 | 6080046 | intergenic variant | T/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.200 | 10 | 6055320 | intron variant | T/C | snv | 7.0E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
12 | 0.763 | 0.280 | 2 | 8812465 | missense variant | G/C | snv | 4.2E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
23 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
10 | 0.763 | 0.280 | X | 49246763 | missense variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
11 | 0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
13 | 0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
4 | 0.925 | 0.160 | 13 | 108308037 | 3 prime UTR variant | T/A | snv | 2.0E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.200 | 11 | 36503743 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 1 | 116766208 | intron variant | T/A | snv | 0.17 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.020 | 0.500 | 2 | 2011 | 2016 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.870 | 0.778 | 9 | 2009 | 2017 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.760 | 0.857 | 7 | 2006 | 2019 | |||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.090 | 0.889 | 9 | 2009 | 2017 | ||||
|
13 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.810 | 1.000 | 5 | 2010 | 2019 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.050 | 1.000 | 5 | 2002 | 2010 | ||||
|
5 | 0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 | 0.830 | 1.000 | 5 | 2010 | 2019 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.820 | 1.000 | 4 | 2010 | 2019 | ||||
|
6 | 0.807 | 0.160 | 3 | 58197909 | missense variant | G/A;C | snv | 4.8E-02; 4.0E-06 | 0.710 | 1.000 | 4 | 2014 | 2019 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.040 | 1.000 | 4 | 2011 | 2017 |