| 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 |
|
0.080 | 1.000 | 8 | 2004 | 2017 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.070 | 1.000 | 7 | 2006 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.070 | 1.000 | 7 | 2006 | 2018 | |||||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.070 | 1.000 | 7 | 2008 | 2013 | |||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 7 | 1998 | 2010 | |||||||||
|
0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 7 | 2002 | 2010 | |||||||||
|
0.925 | 0.080 | 1 | 22912497 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.070 | 1.000 | 7 | 2012 | 2020 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.070 | 0.857 | 7 | 2011 | 2015 | |||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.070 | 1.000 | 7 | 2006 | 2018 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.060 | 1.000 | 6 | 2004 | 2014 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.060 | 1.000 | 6 | 2009 | 2016 | ||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.060 | 1.000 | 6 | 2012 | 2019 | ||||||||
|
0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 |
|
0.700 | 1.000 | 6 | 2009 | 2012 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.050 | 1.000 | 5 | 2006 | 2019 | |||||||
|
0.882 | 0.160 | 7 | 55174818 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 5 | 2006 | 2014 | |||||||||
|
0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.720 | 1.000 | 5 | 2002 | 2018 | ||||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.050 | 0.800 | 5 | 2010 | 2019 | |||||||
|
0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 |
|
0.050 | 1.000 | 5 | 2007 | 2011 | ||||||||
|
1.000 | 0.080 | 17 | 39724748 | inframe insertion | -/GGGCTCCCC | delins |
|
0.700 | 1.000 | 5 | 2005 | 2012 | |||||||||
|
0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 |
|
0.050 | 1.000 | 5 | 2004 | 2013 | ||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.040 | 1.000 | 4 | 2005 | 2014 | |||||||
|
0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv |
|
0.720 | 1.000 | 4 | 1995 | 2016 | |||||||||
|
0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv |
|
0.040 | 1.000 | 4 | 2014 | 2019 | |||||||||
|
0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 4 | 2002 | 2008 | |||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 4 | 2002 | 2013 |