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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 10 | 99851537 | missense variant | G/A | snv | 5.3E-02 | 8.5E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 4 | 88104957 | intron variant | C/T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 88141133 | intron variant | T/G | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.020 | 1.000 | 2 | 2012 | 2017 | |||||||
|
0.925 | 0.200 | 1 | 230710637 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 20 | 34260386 | synonymous variant | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.280 | 10 | 5094459 | missense variant | C/G | snv | 0.50 | 0.45 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 14 | 104770839 | synonymous variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 12 | 111790494 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv |
|
0.040 | 1.000 | 4 | 2014 | 2019 | |||||||||
|
0.827 | 0.120 | 2 | 29222347 | missense variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2014 | 2016 | |||||||||
|
0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 2 | 29222584 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.160 | 2 | 29222407 | missense variant | G/A;C | snv | 3.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 29717646 | missense variant | T/C | snv | 5.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 2 | 29220759 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 29213993 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |