| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 5 | 102458457 | synonymous variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.882 | 0.080 | 4 | 102466262 | downstream gene variant | G/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2010 | 2018 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.030 | 1.000 | 3 | 2013 | 2017 | |||||||||
|
1.000 | 0.080 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 4 | 102555009 | intron variant | T/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 102587667 | intron variant | A/G | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 4 | 102589957 | intron variant | G/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 4 | 102598330 | intron variant | A/G | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 4 | 102620848 | downstream gene variant | G/T | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.080 | 11 | 10265208 | intron variant | A/C;T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 10271190 | missense variant | C/G;T | snv | 8.1E-06; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.732 | 0.200 | 11 | 102718452 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 10 | 102824175 | intron variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.742 | 0.160 | 10 | 102835491 | non coding transcript exon variant | G/A | snv | 0.25 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
0.020 | 1.000 | 2 | 2006 | 2009 | |||||||
|
0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 10 | 102845764 | non coding transcript exon variant | C/T | snv | 9.1E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.030 | 1.000 | 3 | 2006 | 2017 | |||||||
|
0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.080 | 0.875 | 8 | 2011 | 2019 | |||||||
|
0.677 | 0.360 | 13 | 102875987 | 3 prime UTR variant | G/A | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 3 | 10290681 | intron variant | T/G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |