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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.240 | 14 | 102229508 | missense variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||||
|
0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.060 | 1.000 | 6 | 2001 | 2016 | |||||||
|
0.925 | 0.120 | 7 | 102273394 | missense variant | C/G;T | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 5 | 102284470 | intron variant | T/C | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.732 | 0.440 | 12 | 102399855 | 3 prime UTR variant | A/G | snv | 2.1E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.200 | 12 | 102431143 | intron variant | T/C | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.120 | 12 | 102462696 | intron variant | A/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.752 | 0.440 | 12 | 102481086 | intron variant | A/G | snv | 5.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv |
|
0.050 | 0.800 | 5 | 2012 | 2018 | |||||||||
|
0.790 | 0.240 | 20 | 10253609 | intron variant | G/A | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 4 | 102579012 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 4 | 102588298 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 2 | 102733348 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.080 | 7 | 102743216 | intron variant | T/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 102764872 | intron variant | C/T | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 8 | 102777227 | regulatory region variant | T/C | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.240 | 14 | 102799329 | intron variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.160 | 10 | 102837961 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.090 | 0.778 | 9 | 2005 | 2019 | |||||||
|
1.000 | 0.080 | 14 | 102865271 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |