| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.100 | 1.000 | 18 | 2004 | 2019 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.100 | 1.000 | 17 | 2004 | 2019 | ||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.100 | 1.000 | 12 | 2008 | 2018 | |||||||
|
0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 |
|
0.050 | 0.200 | 5 | 2007 | 2020 | ||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.040 | 1.000 | 4 | 2014 | 2018 | ||||||||
|
0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 4 | 2010 | 2017 | |||||||
|
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 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 |
|
0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
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 | |||||||||
|
10 | 60167108 | intron variant | C/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
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 |