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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 |
|
0.730 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
16 | 2498332 | missense variant | C/G;T | snv | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
MT | 14598 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||||
|
0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 |
|
0.700 | 0 | ||||||||||
|
1 | 20638074 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||||
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
0.100 | 0.958 | 24 | 2005 | 2020 | |||||||
|
0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 |
|
0.100 | 1.000 | 10 | 2000 | 2019 | ||||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.070 | 0.857 | 7 | 2001 | 2019 | |||||||||
|
0.807 | 0.080 | 21 | 32695106 | missense variant | C/T | snv | 1.2E-05 |
|
0.050 | 1.000 | 5 | 2013 | 2016 | ||||||||
|
0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 1996 | 1999 | |||||||
|
0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 |
|
0.030 | 1.000 | 3 | 2008 | 2014 | ||||||||
|
0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 2007 | 2010 | |||||||||
|
0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 |
|
0.030 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv |
|
0.030 | 1.000 | 3 | 2002 | 2017 | |||||||||
|
0.925 | 0.040 | 1 | 20649054 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.030 | 1.000 | 3 | 2006 | 2008 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | 0.500 | 2 | 2003 | 2010 | ||||||||
|
0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv |
|
0.020 | 1.000 | 2 | 2001 | 2019 | |||||||||
|
0.827 | 0.240 | 15 | 89320883 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2007 | 2013 | |||||||||
|
0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.827 | 0.080 | 3 | 132477995 | missense variant | A/G | snv | 4.2E-06 | 3.5E-05 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.925 | 0.120 | 17 | 46010401 | missense variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2004 | 2005 | |||||||||
|
0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2003 | 2007 | |||||||||
|
0.851 | 0.040 | 3 | 45722873 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 |
|
0.020 | 1.000 | 2 | 2013 | 2016 |