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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.100 | 0.968 | 31 | 2006 | 2019 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.100 | 0.968 | 31 | 2006 | 2019 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.100 | 0.968 | 31 | 2006 | 2019 | |||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.100 | 1.000 | 18 | 2010 | 2015 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.875 | 16 | 2000 | 2018 | |||||||||
|
0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 |
|
0.100 | 0.813 | 16 | 2008 | 2017 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.875 | 16 | 2000 | 2018 | |||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.100 | 1.000 | 15 | 2009 | 2018 | ||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.090 | 1.000 | 9 | 2005 | 2016 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.090 | 0.667 | 9 | 2001 | 2018 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.070 | 1.000 | 7 | 2011 | 2019 | |||||||||
|
0.851 | 0.120 | 19 | 45387615 | intron variant | T/C | snv | 0.27 |
|
0.070 | 1.000 | 7 | 2012 | 2019 | ||||||||
|
0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 |
|
0.060 | 1.000 | 6 | 2012 | 2019 | ||||||||
|
0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 |
|
0.060 | 1.000 | 6 | 2009 | 2017 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.050 | 1.000 | 5 | 2006 | 2018 | |||||||||
|
0.763 | 0.320 | 5 | 1342599 | intron variant | C/A | snv | 0.41 |
|
0.050 | 1.000 | 5 | 2010 | 2014 | ||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 2006 | 2018 | |||||||||
|
0.827 | 0.080 | 3 | 189638472 | intron variant | T/C | snv | 0.45 |
|
0.050 | 1.000 | 5 | 2011 | 2015 | ||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv |
|
0.050 | 0.800 | 5 | 2004 | 2017 | |||||||||
|
0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 |
|
0.040 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 |
|
0.040 | 1.000 | 4 | 2011 | 2017 | ||||||||
|
0.724 | 0.240 | 5 | 1287079 | 3 prime UTR variant | G/A | snv | 0.63 |
|
0.040 | 1.000 | 4 | 2016 | 2019 | ||||||||
|
0.790 | 0.240 | 6 | 28808340 | intergenic variant | G/A | snv | 7.2E-02 |
|
0.040 | 1.000 | 4 | 2010 | 2017 | ||||||||
|
0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 |
|
0.040 | 0.750 | 4 | 2010 | 2016 | ||||||||
|
0.742 | 0.240 | 15 | 78596058 | 3 prime UTR variant | G/A | snv | 0.39 |
|
0.040 | 1.000 | 4 | 2010 | 2020 |