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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 54002195 | intron variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||||
|
1.000 | 0.080 | 5 | 53975590 | intron variant | G/A | snv | 0.72 |
|
0.800 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 54004832 | intron variant | A/G | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
5 | 54002195 | intron variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
5 | 53999716 | intron variant | C/T | snv | 8.4E-02 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
5 | 53987800 | intron variant | T/A | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
5 | 54148668 | intron variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
5 | 54047699 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
5 | 53999716 | intron variant | C/T | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 54012825 | intron variant | TT/-;T;TTT | delins | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 54012825 | intron variant | TT/-;T;TTT | delins | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 53898797 | intron variant | C/T | snv | 8.1E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 53898797 | intron variant | C/T | snv | 8.1E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 54010860 | intron variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 54006790 | intron variant | G/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 54082620 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
5 | 54005377 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
5 | 54207072 | intron variant | C/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 54207072 | intron variant | C/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 53987800 | intron variant | T/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 53987800 | intron variant | T/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 53987800 | intron variant | T/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 54148668 | intron variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 54006524 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 54163093 | intron variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |