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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
26 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
23 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
25 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2009 | 2010 | |||||
|
23 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
23 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
25 | 0.677 | 0.480 | 5 | 160467840 | intron variant | A/G | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
23 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2009 | 2012 | |||||
|
21 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
20 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
20 | 0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
18 | 0.708 | 0.360 | 8 | 89935041 | 3 prime UTR variant | C/G | snv | 0.31 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
18 | 0.716 | 0.360 | 9 | 22029548 | 3 prime UTR variant | T/C | snv | 0.31 | 0.28 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
16 | 0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.732 | 0.360 | 1 | 236838504 | synonymous variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2002 | 2012 | |||
|
15 | 0.732 | 0.240 | 11 | 32396399 | synonymous variant | T/C | snv | 0.24; 4.0E-06 | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
12 | 0.732 | 0.360 | 6 | 26094205 | stop gained | C/A;T | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
14 | 0.732 | 0.200 | 11 | 102718452 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
12 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |