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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 1 | 117147650 | 3 prime UTR variant | G/A | snv | 0.88 | 0.76 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 39862786 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.160 | 1 | 200041696 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 1 | 214657274 | stop gained | A/G;T | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | 1 | 203187994 | upstream gene variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.653 | 0.560 | 1 | 172658358 | upstream gene variant | C/T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.827 | 0.160 | 2 | 112834078 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 203934671 | upstream gene variant | C/T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.732 | 0.320 | 2 | 136115226 | synonymous variant | C/T | snv | 4.0E-06 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 2 | 112834786 | intron variant | C/T | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 2 | 237401239 | intron variant | G/A | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |