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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 8 | 123753462 | intergenic variant | A/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 4 | 125491736 | missense variant | C/T | snv | 4.9E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.807 | 0.200 | 2 | 201288355 | 3 prime UTR variant | T/C;G | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 4 | 125318831 | missense variant | C/G;T | snv | 4.0E-06; 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.080 | 0.875 | 8 | 2009 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 17356224 | intron variant | A/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
19 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 2008 | 2016 | ||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2011 | 2016 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.080 | 10 | 94308190 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.050 | 0.600 | 5 | 2013 | 2015 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.030 | 0.667 | 3 | 2001 | 2019 | |||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.752 | 0.240 | 3 | 41224609 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.200 | 22 | 41169525 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.742 | 0.320 | 4 | 152326136 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 10 | 121515259 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.200 | 8 | 127738390 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |