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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.080 | 1 | 221872104 | intergenic variant | G/T | snv | 0.34 |
|
0.830 | 0.667 | 3 | 2010 | 2013 | ||||||||
|
0.790 | 0.080 | 1 | 183112059 | intron variant | A/C | snv | 0.37 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 221724004 | intron variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.827 | 0.160 | 1 | 155134221 | 3 prime UTR variant | G/A | snv | 0.40 |
|
0.020 | 0.500 | 2 | 2013 | 2019 | ||||||||
|
0.732 | 0.360 | 1 | 236838504 | synonymous variant | C/T | snv | 1.6E-05 | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | |||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 |
|
0.020 | 0.500 | 2 | 2008 | 2013 | |||||||
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.020 | 0.500 | 2 | 2012 | 2015 | ||||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.020 | 1.000 | 2 | 2005 | 2007 | |||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2013 | |||||||||
|
0.827 | 0.120 | 1 | 24964519 | missense variant | A/T | snv | 0.56 | 0.50 |
|
0.020 | 0.500 | 2 | 2015 | 2017 | |||||||
|
0.851 | 0.200 | 1 | 99580690 | intron variant | T/G | snv | 0.35 |
|
0.710 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.020 | 1.000 | 2 | 2012 | 2020 | |||||||
|
0.790 | 0.080 | 1 | 22261235 | regulatory region variant | T/C | snv | 6.2E-02 |
|
0.710 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.790 | 0.200 | 1 | 226360853 | 3 prime UTR variant | A/G | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 221709883 | intron variant | C/T | snv | 0.58 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 70439117 | missense variant | G/T | snv | 0.28 | 0.24 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 1 | 112913924 | missense variant | A/T | snv | 0.59 | 0.66 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 183143277 | 3 prime UTR variant | A/G | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 109690516 | missense variant | G/A;C;T | snv | 0.36; 6.9E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |