| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 6 | 79925034 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | X | 123900534 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.708 | 0.360 | 13 | 30459095 | 3 prime UTR variant | C/T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 12 | 66250331 | 3 prime UTR variant | T/C | snv | 9.0E-02 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 9 | 88989662 | upstream gene variant | G/C | snv | 0.37 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 11 | 116834384 | upstream gene variant | G/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.240 | 8 | 73989727 | upstream gene variant | C/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 3 | 136392816 | intron variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 19 | 51759909 | intron variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 9557042 | upstream gene variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 2 | 9557277 | upstream gene variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 1 | 247421289 | intron variant | A/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.280 | 18 | 31592921 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |