| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 1 | 959193 | intron variant | G/A | snv | 0.82 | 0.69 |
|
0.710 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 8 | 125436547 | 3 prime UTR variant | G/A | snv | 0.25 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.240 | 8 | 75558169 | intron variant | G/A | snv | 0.65 |
|
0.710 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 8 | 125432546 | intron variant | G/A | snv | 0.30 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 8 | 125469233 | intron variant | A/T | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 17 | 37718512 | intron variant | A/G | snv | 0.82 |
|
0.710 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 1 | 156670593 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-03 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 7 | 47449305 | intron variant | G/C | snv | 0.15 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2011 | 2011 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 0.500 | 2 | 2011 | 2011 | |||||||||
|
0.882 | 0.120 | 18 | 59211042 | intergenic variant | C/T | snv | 0.23 |
|
0.710 | 0.500 | 1 | 2015 | 2018 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.050 | 0.600 | 5 | 2005 | 2020 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2010 | 2011 | ||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.030 | 0.667 | 3 | 2012 | 2017 | ||||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
0.040 | 0.750 | 4 | 2003 | 2007 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.060 | 0.833 | 6 | 2007 | 2019 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.060 | 0.833 | 6 | 2006 | 2019 |