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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.040 | 0.500 | 4 | 2003 | 2014 | |||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.040 | 0.500 | 4 | 2012 | 2017 | ||||||||
|
0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv |
|
0.840 | 1.000 | 4 | 2009 | 2017 | |||||||||
|
0.925 | 0.120 | 7 | 55147325 | intron variant | A/C | snv | 0.51 |
|
0.040 | 0.750 | 4 | 2012 | 2017 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 0.667 | 3 | 2013 | 2018 | |||||||
|
1.000 | 0.040 | 2 | 55881198 | intron variant | C/T | snv | 0.36 |
|
0.030 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.882 | 0.040 | 2 | 55865477 | downstream gene variant | C/A;G;T | snv |
|
0.030 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.925 | 0.120 | 7 | 55162412 | intron variant | C/T | snv | 0.21 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 |
|
0.030 | 0.667 | 3 | 2013 | 2017 | |||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.030 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv |
|
0.030 | 1.000 | 3 | 2013 | 2014 | |||||||||
|
0.925 | 0.120 | 2 | 55869757 | intron variant | A/G | snv | 0.20 |
|
0.030 | 1.000 | 3 | 2015 | 2016 | ||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.030 | 1.000 | 3 | 2012 | 2014 | ||||||||
|
1.000 | 0.040 | 13 | 108207498 | 3 prime UTR variant | C/T | snv | 0.12 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.925 | 0.080 | 18 | 672792 | 3 prime UTR variant | C/T | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.020 | 1.000 | 2 | 2010 | 2017 | |||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.020 | 0.500 | 2 | 2012 | 2017 | |||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.720 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.020 | 1.000 | 2 | 2017 | 2017 | |||||||
|
0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.790 | 0.120 | 13 | 108211243 | missense variant | G/A | snv | 0.18 | 0.16 |
|
0.020 | 0.500 | 2 | 2013 | 2015 | |||||||
|
0.882 | 0.040 | 3 | 169862183 | intron variant | G/A | snv | 0.25 |
|
0.820 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
1.000 | 0.040 | 14 | 22788980 | intron variant | T/C;G | snv |
|
0.020 | 0.500 | 2 | 2013 | 2017 |