| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.280 | 6 | 104960124 | intron variant | A/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 3 | 119818407 | 3 prime UTR variant | A/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 8 | 140545763 | intron variant | A/C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 47799596 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.776 | 0.160 | 6 | 8653014 | non coding transcript exon variant | A/C | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
12 | 49050951 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.090 | 1.000 | 9 | 2006 | 2013 | ||||||||
|
0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 |
|
0.040 | 1.000 | 4 | 2016 | 2019 | ||||||||
|
0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2010 | 2016 | |||||||||
|
0.925 | 0.200 | 3 | 36993548 | start lost | A/C;G | snv |
|
0.020 | 0.500 | 2 | 2009 | 2015 | |||||||||
|
0.851 | 0.360 | 19 | 544072 | start lost | A/C;G | snv |
|
0.020 | 0.500 | 2 | 2009 | 2015 | |||||||||
|
0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
7 | 55172999 | missense variant | A/C;G | snv | 4.0E-05 | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 7 | 116525306 | missense variant | A/C;G | snv | 0.86 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 11 | 119278170 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.160 | 7 | 148809304 | splice region variant | A/C;G | snv | 6.8E-02; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 11 | 27635363 | intron variant | A/C;G | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.120 | 12 | 6601978 | missense variant | A/C;G | snv | 2.0E-05; 1.2E-04; 5.2E-03 | 1.7E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
12 | 7795018 | missense variant | A/C;G | snv | 1.9E-04; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |