| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 8 | 132869781 | missense variant | G/A | snv | 7.6E-04 | 7.0E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 5 | 37048547 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
2 | 231115305 | intron variant | C/T | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.200 | 19 | 13919876 | synonymous variant | T/C | snv | 0.27 | 0.38 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
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 | |||||||||
|
6 | 31165217 | missense variant | C/T | snv | 4.1E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
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 | |||||||||
|
0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 160042480 | missense variant | C/T | snv | 1.2E-02 | 1.1E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.080 | 8 | 132174294 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
2 | 26273656 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
8 | 103766303 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.360 | 8 | 85473779 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 1992 | 1992 | ||||||||
|
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 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | X | 48901944 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | X | 100662227 | missense variant | A/C | snv | 3.3E-05 | 2.9E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
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 |