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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 0.967 | 7 | 2007 | 2017 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.900 | 0.972 | 6 | 2004 | 2019 | |||||||
|
0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 |
|
0.870 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 |
|
0.900 | 0.867 | 4 | 2008 | 2019 | ||||||||
|
0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv |
|
0.880 | 1.000 | 4 | 2009 | 2019 | |||||||||
|
0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 |
|
0.830 | 1.000 | 4 | 2008 | 2016 | ||||||||
|
0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 |
|
0.800 | 1.000 | 4 | 2008 | 2017 | ||||||||
|
0.925 | 0.120 | 10 | 48817351 | missense variant | G/A | snv | 0.38 | 0.31 |
|
0.800 | 1.000 | 4 | 2010 | 2016 | |||||||
|
0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 |
|
0.710 | 1.000 | 4 | 2015 | 2018 | ||||||||
|
0.827 | 0.240 | 5 | 160460329 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 4 | 2015 | 2019 | |||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | ||||||||
|
0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 |
|
0.900 | 1.000 | 3 | 2009 | 2019 | |||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.830 | 1.000 | 3 | 2009 | 2017 | |||||||||
|
0.807 | 0.360 | 7 | 50266267 | upstream gene variant | T/G | snv | 0.26 |
|
0.830 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.882 | 0.200 | 2 | 33476823 | intron variant | T/C | snv | 6.3E-02 |
|
0.810 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.810 | 1.000 | 3 | 2008 | 2017 | ||||||||
|
0.925 | 0.120 | 10 | 62045858 | intron variant | T/C | snv | 0.55 |
|
0.810 | 1.000 | 3 | 2013 | 2016 | ||||||||
|
0.882 | 0.120 | 16 | 31301932 | intron variant | C/T | snv | 0.26 |
|
0.810 | 1.000 | 3 | 2008 | 2014 | ||||||||
|
0.827 | 0.200 | 7 | 128977412 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 3 | 2011 | 2017 | |||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.800 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 |
|
0.800 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
0.732 | 0.400 | 5 | 151077924 | intron variant | G/C | snv | 0.44 |
|
0.730 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 128945562 | intron variant | C/T | snv | 9.0E-02 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 22 | 21622645 | 3 prime UTR variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.882 | 0.160 | 11 | 128629105 | intron variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 3 | 2015 | 2019 |