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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 5 | 88927603 | intron variant | G/A | snv | 0.72 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
5 | 89058858 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 88894787 | intron variant | A/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
5 | 89080244 | intron variant | A/C | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 5 | 89179048 | intron variant | T/C | snv | 5.5E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
5 | 89174513 | intron variant | T/C | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 89392546 | intron variant | C/T | snv | 3.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 88887834 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.080 | 5 | 89030013 | intron variant | C/T | snv | 4.0E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
5 | 88924623 | intron variant | AG/- | delins | 2.8E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 88895818 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 89046775 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 88919777 | intron variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 89439520 | intron variant | GTGTGTGTGTGT/-;GT;GTGT;GTGTGT;GTGTGTGT;GTGTGTGTGT;GTGTGTGTGTGTGT;GTGTGTGTGTGTGTGT;GTGTGTGTGTGTGTGTGT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
5 | 89188503 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
5 | 88979517 | intron variant | -/C | ins | 2.0E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 88885292 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
5 | 88994950 | intron variant | G/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 89453065 | intron variant | T/G | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 89003450 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 5 | 89448145 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |