| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.877 | 81 | 2005 | 2019 | |||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 0.966 | 29 | 2007 | 2017 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.964 | 28 | 2001 | 2018 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.905 | 21 | 2004 | 2018 | |||||||||
|
0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 |
|
0.900 | 0.938 | 16 | 2007 | 2019 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.100 | 0.714 | 14 | 2010 | 2019 | |||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.100 | 0.833 | 12 | 2011 | 2019 | |||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.850 | 0.818 | 11 | 2008 | 2019 | ||||||||
|
0.827 | 0.200 | 9 | 120927961 | intron variant | G/A | snv | 0.52 |
|
0.870 | 0.909 | 11 | 2007 | 2015 | ||||||||
|
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 | ||||||||
|
0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 |
|
0.090 | 1.000 | 9 | 2008 | 2014 | ||||||||
|
0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 |
|
0.790 | 1.000 | 9 | 2007 | 2014 | ||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.850 | 0.889 | 9 | 2010 | 2019 | ||||||||
|
0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 |
|
0.880 | 1.000 | 8 | 2007 | 2016 | ||||||||
|
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 | ||||||||
|
0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 |
|
0.780 | 0.625 | 8 | 2006 | 2012 | ||||||||
|
0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 |
|
0.770 | 1.000 | 8 | 2007 | 2020 | ||||||||
|
0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 |
|
0.080 | 0.875 | 8 | 2009 | 2017 | ||||||||
|
0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 |
|
0.070 | 1.000 | 7 | 2004 | 2015 | |||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.070 | 0.714 | 7 | 2009 | 2020 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.070 | 0.857 | 7 | 2011 | 2019 | |||||||
|
0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 |
|
0.070 | 0.714 | 7 | 2007 | 2018 | |||||||
|
1.000 | 0.120 | 1 | 17336144 | intron variant | T/C | snv | 0.56 | 0.54 |
|
0.770 | 1.000 | 7 | 2008 | 2017 | |||||||
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.070 | 0.857 | 7 | 2015 | 2020 |