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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 |
|
0.900 | 1.000 | 16 | 1997 | 2019 | ||||||||
|
0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 |
|
0.860 | 0.900 | 10 | 2011 | 2019 | ||||||||
|
0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 |
|
0.830 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
0.925 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 |
|
0.830 | 1.000 | 3 | 2012 | 2019 | |||||||
|
0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv |
|
0.820 | 1.000 | 4 | 2011 | 2019 | |||||||||
|
4 | 186264231 | upstream gene variant | A/T | snv | 0.36 |
|
0.810 | 1.000 | 3 | 2011 | 2014 | ||||||||||
|
0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv |
|
0.800 | 1.000 | 4 | 2011 | 2016 | |||||||||
|
4 | 186277851 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 3 | 2011 | 2019 | |||||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2012 | |||||||||
|
0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 169511985 | 3 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2011 | 2013 | |||||||||
|
1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv |
|
0.800 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2011 | 2013 | |||||||||
|
1 | 169544768 | intron variant | A/G | snv | 0.92 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169165889 | intron variant | A/C | snv | 5.5E-02 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
4 | 154604543 | 3 prime UTR variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
4 | 186266940 | intron variant | T/G | snv | 0.30 |
|
0.800 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.882 | 0.120 | 4 | 154623920 | upstream gene variant | A/T | snv | 0.27 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
4 | 154622217 | upstream gene variant | T/C | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 154599778 | downstream gene variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.040 | 4 | 186286227 | non coding transcript exon variant | C/T | snv | 0.35 |
|
0.740 | 1.000 | 5 | 2013 | 2019 | ||||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
0.730 | 1.000 | 8 | 2012 | 2019 | ||||||||
|
0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 |
|
0.720 | 0.750 | 4 | 2015 | 2020 | |||||||
|
1.000 | 0.120 | 10 | 69485520 | intron variant | T/C | snv | 8.5E-02 |
|
0.710 | 0.800 | 5 | 2015 | 2020 |