| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 1.000 | 11 | 2003 | 2015 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.090 | 0.889 | 9 | 2004 | 2014 | |||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.882 | 0.120 | 1 | 159710123 | upstream gene variant | G/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 1 | 226363128 | missense variant | T/C;G | snv | 1.2E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 1 | 9151743 | mature miRNA variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 1 | 228347383 | intron variant | C/T | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.080 | 1 | 11804529 | 5 prime UTR variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 206716793 | intron variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.080 | 1 | 186674636 | missense variant | A/C;G | snv | 4.0E-06; 7.6E-03 | 1.4E-02 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.080 | 1 | 65469811 | intron variant | G/A | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 1 | 26419836 | intron variant | A/G | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 1 | 45332181 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |