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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 3 | 10146624 | missense variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
3 | 0.882 | 0.080 | 1 | 161356685 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv | 0.020 | 1.000 | 2 | 1999 | 2003 | |||||
|
7 | 0.807 | 0.120 | 10 | 43114598 | missense variant | G/C;T | snv | 2.4E-05 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
27 | 0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 | 0.020 | < 0.001 | 2 | 2014 | 2017 | ||||
|
12 | 0.742 | 0.120 | 11 | 112086941 | missense variant | G/A | snv | 7.5E-03 | 7.0E-03 | 0.020 | 1.000 | 2 | 2006 | 2012 | |||
|
14 | 0.716 | 0.240 | 10 | 43120144 | missense variant | T/G | snv | 1.2E-05 | 7.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2014 | |||
|
10 | 0.763 | 0.200 | 10 | 43112173 | missense variant | G/A;T | snv | 4.4E-05 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
16 | 0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2005 | 2007 | |||||
|
9 | 0.776 | 0.120 | 10 | 43114491 | missense variant | G/A;T | snv | 4.0E-05; 4.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2017 | ||||
|
8 | 0.776 | 0.160 | 10 | 43113621 | missense variant | T/A;C;G | snv | 0.030 | 1.000 | 3 | 2005 | 2012 | |||||
|
15 | 0.724 | 0.120 | 10 | 43113622 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2005 | 2012 | ||||
|
7 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 16 | 2003 | 2016 | ||||
|
7 | 0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 | 0.700 | 1.000 | 12 | 2005 | 2015 | ||||
|
8 | 0.790 | 0.280 | 11 | 112086910 | start lost | G/A;C | snv | 0.700 | 1.000 | 11 | 2001 | 2012 | |||||
|
8 | 0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 | 0.700 | 1.000 | 10 | 2006 | 2013 | ||||
|
6 | 0.851 | 0.120 | 1 | 17033078 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 10 | 2001 | 2014 | ||||
|
5 | 0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv | 0.700 | 1.000 | 10 | 1992 | 2013 | |||||
|
2 | 1.000 | 0.040 | 1 | 17044767 | missense variant | A/G;T | snv | 0.700 | 1.000 | 10 | 2001 | 2014 | |||||
|
6 | 0.827 | 0.240 | 11 | 112094831 | missense variant | A/G | snv | 0.700 | 1.000 | 9 | 2001 | 2016 | |||||
|
5 | 0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv | 0.700 | 1.000 | 9 | 2003 | 2013 | |||||
|
6 | 0.827 | 0.240 | 11 | 112087916 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2000 | 2015 | ||||
|
5 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 2006 | 2012 | |||||
|
4 | 0.882 | 0.200 | 11 | 112087868 | stop gained | C/T | snv | 0.700 | 1.000 | 7 | 2001 | 2012 | |||||
|
5 | 0.851 | 0.200 | 11 | 112086908 | start lost | A/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 7 | 2001 | 2012 |