Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 0.667 | 3 | 2006 | 2011 | |||||||
|
0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2015 | 2019 | |||||||||
|
0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv |
|
0.030 | 0.667 | 3 | 1999 | 2015 | |||||||||
|
0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv |
|
0.030 | 1.000 | 3 | 2016 | 2019 | |||||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 |
|
0.020 | 1.000 | 2 | 2003 | 2005 | |||||||
|
0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2000 | 2010 | |||||||||
|
0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2015 | ||||||||
|
0.882 | 0.040 | 6 | 15656839 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 9 | 35685750 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 6 | 95606712 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.160 | 11 | 6393301 | missense variant | T/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.120 | 16 | 31191419 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 2 | 166002660 | missense variant | C/A;T | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 12 | 6869741 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 17 | 45807036 | synonymous variant | C/T | snv | 3.1E-02 | 3.0E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 7 | 82759398 | intron variant | T/G | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |