| 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 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv |
|
0.060 | 1.000 | 6 | 2011 | 2017 | |||||||||
|
0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.060 | 0.833 | 6 | 2004 | 2018 | |||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.050 | 0.800 | 5 | 2014 | 2019 | ||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.050 | 1.000 | 5 | 2008 | 2019 | ||||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.050 | 1.000 | 5 | 1999 | 2014 | ||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.050 | 0.600 | 5 | 2006 | 2018 | |||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.050 | 1.000 | 5 | 1996 | 2018 | |||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
0.050 | 1.000 | 5 | 2005 | 2016 | |||||||
|
0.882 | 0.080 | 13 | 27920364 | missense variant | G/A;T | snv | 2.9E-03 |
|
0.040 | 0.750 | 4 | 1999 | 2004 | ||||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
0.040 | 1.000 | 4 | 2002 | 2008 | |||||||
|
0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 |
|
0.040 | 0.750 | 4 | 2005 | 2007 | |||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.040 | 0.750 | 4 | 2000 | 2013 | |||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.040 | 1.000 | 4 | 2013 | 2018 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2014 | 2017 | ||||||||
|
0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 |
|
0.030 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.030 | 1.000 | 3 | 2011 | 2016 | |||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.030 | 1.000 | 3 | 2013 | 2015 | ||||||||
|
0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv |
|
0.030 | 1.000 | 3 | 2003 | 2013 | |||||||||
|
0.925 | 0.080 | 13 | 27920190 | missense variant | T/C | snv | 1.1E-04 | 1.0E-04 |
|
0.030 | 1.000 | 3 | 2000 | 2019 | |||||||
|
0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2001 | 2015 | |||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2003 | 2009 | ||||||||
|
0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 |
|
0.030 | 1.000 | 3 | 1999 | 2010 | ||||||||
|
0.882 | 0.080 | 7 | 127613496 | missense variant | C/T | snv | 8.2E-03 | 2.1E-03 |
|
0.030 | 1.000 | 3 | 2007 | 2019 | |||||||
|
0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2013 | |||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.030 | 1.000 | 3 | 2008 | 2017 |