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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 2000 | 2010 | |||||||||
|
0.882 | 0.240 | X | 111194402 | missense variant | C/A | snv |
|
0.020 | 1.000 | 2 | 2003 | 2020 | |||||||||
|
0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2006 | 2006 | |||||||||
|
0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2008 | 2008 | |||||||||
|
0.851 | 0.200 | X | 154031329 | missense variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2001 | 2016 | |||||||||
|
0.827 | 0.240 | 1 | 11130747 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
2 | 231115305 | intron variant | C/T | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.120 | X | 48902470 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.120 | X | 53432410 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.807 | 0.200 | X | 25012937 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.827 | 0.080 | 20 | 63444747 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 1 | 39967632 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | X | 154399803 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 8 | 132174294 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | X | 111142119 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.925 | 0.200 | X | 111196570 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.080 | X | 48901944 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.200 | X | 54016662 | stop gained | T/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.827 | 0.200 | X | 54011232 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
Y | 1642868 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.925 | 0.200 | X | 119837771 | stop gained | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.200 | 10 | 3165320 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | X | 119837956 | missense variant | C/T | snv | 4.8E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 3 | 70959372 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |