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 | 0.870 | 23 | 2005 | 2018 | |||||||
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.800 | 1.000 | 20 | 2010 | 2018 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.833 | 12 | 2005 | 2014 | |||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.050 | 0.800 | 5 | 2009 | 2014 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.040 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 45331530 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2004 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 45331502 | missense variant | T/C | snv |
|
0.700 | 1.000 | 3 | 2004 | 2015 | |||||||||
|
0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 |
|
0.030 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.763 | 0.240 | 1 | 204519150 | intron variant | G/C | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.020 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.882 | 0.080 | 1 | 155162859 | intergenic variant | T/C | snv | 0.56 |
|
0.020 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | |||||||
|
0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.925 | 0.080 | 1 | 46177421 | intron variant | A/G | snv | 0.22 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 155208991 | missense variant | T/A | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2015 | 2020 | ||||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |