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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.810 | 1.000 | 3 | 2012 | 2014 | |||||||
|
0.882 | 0.120 | 19 | 1650135 | intron variant | A/C;G | snv | 6.7E-06; 0.54 |
|
0.810 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.400 | 6 | 32460508 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 2010 | 2014 | |||||||||
|
0.925 | 0.160 | 8 | 128180025 | intron variant | T/C | snv | 0.27 |
|
0.800 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
1.000 | 0.120 | 2 | 60839531 | intron variant | G/A | snv | 0.69 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
1.000 | 0.120 | 10 | 8051071 | non coding transcript exon variant | G/T | snv | 0.87 | 0.86 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
1.000 | 0.120 | 5 | 132662721 | intron variant | G/A | snv | 7.5E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.240 | 6 | 31479019 | downstream gene variant | G/A | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 8 | 128063586 | intron variant | T/C | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.200 | 3 | 27723132 | upstream gene variant | A/G | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 3 | 140450815 | intron variant | A/C | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 6 | 135093866 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.120 | 6 | 33716536 | upstream gene variant | A/G;T | snv |
|
0.710 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.160 | 6 | 29850791 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.827 | 0.160 | 3 | 188236626 | intron variant | A/C | snv | 0.88 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 137660447 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.200 | 6 | 31635190 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.160 | 3 | 136870707 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.120 | 10 | 8050720 | non coding transcript exon variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 2 | 111098716 | non coding transcript exon variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 22 | 50511648 | intron variant | T/-;TT;TTT;TTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.200 | 6 | 32775521 | intergenic variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 8 | 128064327 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |