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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.030 | 1.000 | 3 | 2000 | 2016 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.240 | 12 | 6334161 | missense variant | A/C;G | snv | 1.6E-04; 4.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 12 | 109595148 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.776 | 0.280 | 19 | 41970540 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.882 | 0.120 | 19 | 38444211 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.925 | 0.120 | 3 | 89341043 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1 | 247425398 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 0.882 | 0.120 | 2 | 165308751 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
9 | 0.790 | 0.080 | 2 | 165992332 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 12 | 6330859 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 0.882 | 0.120 | 19 | 53810777 | missense variant | G/A;C | snv | 3.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 3 | 38608175 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.080 | 3 | 38597949 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
4 | 0.882 | 0.120 | 3 | 38560361 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
7 | 0.851 | 0.120 | 3 | 38560374 | missense variant | C/G;T | snv | 4.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
19 | 0.695 | 0.440 | 12 | 68161231 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.851 | 0.120 | 12 | 112961114 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1 | 159724419 | intergenic variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
17 | 0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
24 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 6 | 31271178 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |