Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 0.500 | 2 | 2014 | 2015 | |||||
|
11 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
3 | 0.882 | 0.080 | 11 | 58709815 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
11 | 0.776 | 0.200 | 3 | 179234284 | missense variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.776 | 0.200 | 3 | 179234285 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.851 | 0.080 | 3 | 52403251 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.807 | 0.160 | 7 | 55198851 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.742 | 0.440 | 2 | 203870794 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
26 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.724 | 0.440 | 3 | 179234286 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
25 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.160 | 10 | 43100520 | synonymous variant | A/C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 18 | 75288186 | missense variant | G/A;C | snv | 1.6E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 2 | 113220126 | missense variant | G/A;C | snv | 2.0E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.790 | 0.240 | 13 | 102862735 | missense variant | G/A;C | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
31 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |