| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 7 | 87595783 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 21 | 45468531 | synonymous variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.160 | 2 | 48963902 | missense variant | C/G;T | snv | 4.0E-06; 0.55 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | 2 | 201241309 | non coding transcript exon variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.120 | 20 | 4787830 | intron variant | -/AGGGACT | ins |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.807 | 0.120 | 17 | 37733029 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.120 | 2 | 238022053 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 7 | 1898249 | missense variant | C/A;G;T | snv | 4.0E-06; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.120 | 17 | 6694197 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 11 | 96097550 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.120 | 3 | 7963141 | intron variant | G/C;T | snv |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.200 | 12 | 53963768 | non coding transcript exon variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.320 | 12 | 122172836 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.763 | 0.200 | 17 | 43094776 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 19 | 45365131 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 3 | 128084115 | non coding transcript exon variant | A/G | snv | 1.3E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 7 | 55020815 | intron variant | T/C | snv | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 4 | 79376097 | intergenic variant | T/C | snv | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 5 | 168286995 | upstream gene variant | C/T | snv | 2.1E-02 |
|
0.710 | 1.000 | 1 | 2019 | 2019 |