| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.786 | 14 | 2004 | 2019 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.060 | 0.833 | 6 | 2012 | 2018 | |||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.020 | 0.500 | 2 | 2005 | 2013 | |||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 1 | 160025108 | 3 prime UTR variant | G/A;T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 1 | 241847325 | upstream gene variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.882 | 0.080 | 1 | 209615169 | 3 prime UTR variant | G/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.752 | 0.280 | 1 | 11786195 | 3 prime UTR variant | G/A | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.827 | 0.120 | 1 | 11790377 | 3 prime UTR variant | C/T | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.653 | 0.560 | 1 | 172658358 | upstream gene variant | C/T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.160 | 1 | 11794822 | missense variant | C/G;T | snv | 8.0E-06; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.882 | 0.080 | 2 | 48981895 | intron variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.120 | 2 | 113236840 | non coding transcript exon variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |