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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 27508873 | intron variant | T/-;TT;TTT;TTTT;TTTTTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 27518238 | intron variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 27518205 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 2 | 27503548 | stop gained | C/T | snv | 3.1E-04 | 1.0E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 2 | 27512105 | intron variant | G/A | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 27512105 | intron variant | G/A | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 2 | 27506613 | non coding transcript exon variant | G/A | snv | 0.40 | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 2 | 27520348 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 2 | 27520348 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.882 | 0.120 | 2 | 27523965 | downstream gene variant | A/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
0.882 | 0.160 | 2 | 27508345 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.882 | 0.160 | 2 | 27508345 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 2 | 27508345 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||
|
0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |