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 | 8 | 2005 | 2019 | |||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.710 | 1.000 | 2 | 2007 | 2011 | |||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 0.966 | 3 | 2007 | 2017 | ||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.850 | 0.889 | 2 | 2010 | 2019 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.850 | 0.818 | 4 | 2008 | 2019 | ||||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.800 | 1.000 | 2 | 2007 | 2019 | ||||||||
|
0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 |
|
0.830 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 |
|
0.830 | 0.857 | 2 | 2012 | 2019 | |||||||
|
0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 |
|
0.830 | 1.000 | 1 | 2009 | 2017 | ||||||||
|
0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 |
|
0.770 | 1.000 | 1 | 2007 | 2020 | ||||||||
|
0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.695 | 0.360 | 6 | 90267049 | intron variant | G/A | snv | 0.11 |
|
0.810 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.701 | 0.480 | 6 | 31574699 | upstream gene variant | C/A | snv | 0.14 |
|
0.720 | 0.667 | 1 | 2011 | 2019 | ||||||||
|
0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
0.716 | 0.240 | 5 | 56148856 | intron variant | G/A | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.710 | 1.000 | 3 | 2005 | 2011 | |||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2007 | 2011 | |||||||||
|
0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.710 | 1.000 | 2 | 2007 | 2018 | ||||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.840 | 1.000 | 3 | 2008 | 2016 | |||||||||
|
0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 |
|
0.900 | 0.938 | 5 | 2007 | 2019 |