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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 7 | 44147723 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.120 | 7 | 44145560 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
16 | 0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2006 | 2009 | |||||
|
8 | 0.807 | 0.280 | 11 | 17475004 | missense variant | C/T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2009 | ||||
|
6 | 0.827 | 0.160 | 11 | 17387937 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2014 | 2017 | |||||
|
2 | 1.000 | 0.120 | 11 | 17387407 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2006 | 2006 | |||||
|
4 | 0.851 | 0.120 | 11 | 17395915 | missense variant | G/A;T | snv | 5.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 11 | 17395914 | missense variant | C/A;T | snv | 0.710 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.160 | 11 | 17394360 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.120 | 11 | 17387128 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 11 | 17387967 | missense variant | C/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.120 | 11 | 17453228 | missense variant | T/C | snv | 4.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.120 | 11 | 17474898 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 11 | 17413396 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 11 | 17404525 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.790 | 0.240 | 11 | 17387943 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.851 | 0.240 | 11 | 17387934 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
8 | 0.807 | 0.200 | 11 | 17387595 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
6 | 0.827 | 0.280 | 11 | 17387491 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 11 | 2159862 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 17461720 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
13 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 17442744 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17442734 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 |