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 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
2 | 236581132 | missense variant | G/A;C | snv | 1.6E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 190881277 | missense variant | G/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.742 | 0.240 | 1 | 241885372 | missense variant | C/T | snv | 0.21 | 0.19 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.200 | 2 | 238246412 | missense variant | C/T | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 1 | 169570045 | intron variant | G/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.160 | 11 | 65637829 | upstream gene variant | G/A | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 21 | 43687681 | missense variant | T/C | snv | 0.69 | 0.73 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.120 | 2 | 216188541 | intron variant | T/A | snv | 5.0E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2004 | 2004 | |||||||||
|
0.716 | 0.320 | 2 | 31580756 | missense variant | C/T | snv | 1.8E-02 | 2.1E-02 |
|
0.030 | 0.667 | 3 | 2000 | 2008 | |||||||
|
0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.040 | 1.000 | 4 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 41142504 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.360 | 19 | 547342 | start lost | A/G | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.360 | 19 | 544072 | start lost | A/C;G | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.080 | 6 | 43770762 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.882 | 0.080 | 2 | 136115453 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.120 | 7 | 55191837 | missense variant | G/A | snv |
|
0.080 | 0.875 | 8 | 2010 | 2019 | |||||||||
|
1.000 | 0.080 | 19 | 41009317 | missense variant | T/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2011 | 2019 |