| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.030 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
0.925 | 0.120 | 17 | 17215072 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | 0.500 | 2 | 2007 | 2011 | ||||||||
|
0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 1999 | 2003 | |||||||||
|
0.882 | 0.240 | 3 | 10142088 | missense variant | C/T | snv | 2.0E-04 | 3.8E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.120 | 12 | 26336611 | 3 prime UTR variant | G/T | snv | 0.69 |
|
0.820 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.120 | 17 | 17228023 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.240 | 3 | 10146566 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.120 | 12 | 26377610 | intron variant | T/A;C | snv | 0.40 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.020 | 1.000 | 2 | 2017 | 2017 | |||||||
|
0.882 | 0.240 | 3 | 169818849 | upstream gene variant | T/C | snv | 0.26 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.240 | 1 | 17054012 | missense variant | G/A;C | snv | 4.1E-06; 3.1E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 17 | 17228135 | frameshift variant | C/- | del |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2007 | 2011 | |||||||||
|
0.827 | 0.280 | 1 | 17054017 | start lost | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 4 | 99417185 | intron variant | A/G | snv | 0.22 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.030 | 1.000 | 3 | 2008 | 2018 |