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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.240 | 14 | 58263908 | intron variant | A/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
5 | 0.827 | 0.160 | 2 | 215325297 | missense variant | C/G | snv | 0.33 | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.763 | 0.480 | 1 | 113872746 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
25 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
43 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.320 | 7 | 128940626 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
8 | 0.790 | 0.360 | 10 | 6072697 | upstream gene variant | C/A | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.160 | 10 | 6351298 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.807 | 0.280 | 16 | 11155472 | non coding transcript exon variant | G/A | snv | 0.66 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
41 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
14 | 0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2005 | 2010 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 0.500 | 2 | 2005 | 2015 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 1.000 | 2 | 2005 | 2015 | |||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.020 | 0.500 | 2 | 2013 | 2015 |