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 | 0.776 | 0.240 | 1 | 53247055 | missense variant | C/T | snv | 0.29 | 0.28 | 0.030 | 1.000 | 3 | 2009 | 2014 | |||
|
6 | 0.851 | 0.120 | 1 | 53246063 | 3 prime UTR variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||
|
20 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 0.020 | 1.000 | 2 | 2003 | 2008 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
4 | 0.882 | 0.080 | 1 | 10258602 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.851 | 0.120 | 1 | 155239889 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.851 | 0.080 | 1 | 7809900 | missense variant | A/G | snv | 5.6E-03 | 5.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 1 | 7809893 | missense variant | C/G | snv | 5.6E-03 | 5.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.807 | 0.280 | 1 | 156136009 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.040 | 1 | 97699507 | missense variant | G/A;C | snv | 3.6E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.120 | 1 | 53250744 | missense variant | G/A;T | snv | 0.40; 2.4E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.040 | 1 | 20649109 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.807 | 0.120 | 1 | 11022301 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
10 | 0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
7 | 0.827 | 0.080 | 1 | 231818355 | missense variant | C/T | snv | 0.11 | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
7 | 0.790 | 0.080 | 1 | 20644639 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
13 | 0.732 | 0.200 | 1 | 182586014 | stop gained | C/A | snv | 3.6E-03; 4.0E-06 | 3.3E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
5 | 0.827 | 0.080 | 1 | 20633708 | missense variant | G/A | snv | 6.9E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 1 | 11022556 | missense variant | A/G | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
22 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 0.060 | 1.000 | 6 | 1994 | 2012 |