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 | 0.120 | 16 | 28826194 | intron variant | T/C;G | snv | 0.38 |
|
0.810 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
16 | 28837347 | upstream gene variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
16 | 28837347 | upstream gene variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
16 | 28828609 | intron variant | G/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.120 | 16 | 28826194 | intron variant | T/C;G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 28826194 | intron variant | T/C;G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
16 | 28826585 | non coding transcript exon variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 28826585 | non coding transcript exon variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |