| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.905 | 21 | 2004 | 2018 | |||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.100 | 0.545 | 11 | 2004 | 2015 | ||||||||
|
0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 |
|
0.100 | 0.909 | 11 | 2004 | 2019 | ||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.850 | 0.889 | 9 | 2010 | 2019 | ||||||||
|
0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 |
|
0.080 | 1.000 | 8 | 2010 | 2017 | ||||||||
|
0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 |
|
0.080 | 0.875 | 8 | 2009 | 2017 | ||||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.840 | 1.000 | 7 | 2008 | 2016 | |||||||||
|
0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 |
|
0.820 | 1.000 | 6 | 2014 | 2019 | ||||||||
|
0.776 | 0.320 | 2 | 203745673 | intergenic variant | C/A;T | snv |
|
0.820 | 0.833 | 6 | 2012 | 2019 | |||||||||
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.060 | 0.667 | 6 | 2008 | 2019 | |||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.060 | 0.833 | 6 | 1998 | 2017 | ||||||||
|
0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 |
|
0.060 | 0.833 | 6 | 2004 | 2013 | ||||||||
|
0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv |
|
0.820 | 1.000 | 6 | 2007 | 2018 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.050 | 1.000 | 5 | 2006 | 2019 | ||||||||
|
0.790 | 0.200 | 9 | 34710263 | intron variant | G/A;C | snv |
|
0.820 | 1.000 | 5 | 2008 | 2017 | |||||||||
|
0.827 | 0.280 | 9 | 120944104 | regulatory region variant | T/A;C | snv |
|
0.830 | 1.000 | 5 | 2007 | 2019 | |||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.040 | 1.000 | 4 | 2005 | 2018 | |||||||||
|
0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv |
|
0.040 | 0.500 | 4 | 2010 | 2018 | |||||||||
|
0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv |
|
0.730 | 1.000 | 4 | 2010 | 2012 | |||||||||
|
0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 2007 | 2018 | |||||||||
|
0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 |
|
0.030 | 0.667 | 3 | 2000 | 2018 | ||||||||
|
0.925 | 0.200 | 6 | 137684378 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 3 | 2014 | 2019 | |||||||||
|
1.000 | 0.120 | 7 | 55171181 | synonymous variant | T/A;G | snv |
|
0.030 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
0.925 | 0.120 | 1 | 17336167 | missense variant | T/C;G | snv | 0.63; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv |
|
0.030 | 0.333 | 3 | 2005 | 2014 |