| 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 | |||||||||
|
0.752 | 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 | ||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2007 | ||||||||
|
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 | ||||||||||||
|
0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 |
|
0.050 | 1.000 | 5 | 2002 | 2016 | ||||||||
|
0.925 | 0.200 | 3 | 3150939 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2008 | 2015 | |||||||
|
0.882 | 0.240 | X | 111194402 | missense variant | C/A | snv |
|
0.020 | 1.000 | 2 | 2003 | 2020 | |||||||||
|
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 | |||||||||
|
1.000 | 2 | 138013874 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
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 | 0.200 | 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 |