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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 |
|
0.810 | 1.000 | 7 | 2013 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 142235609 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||
|
1.000 | 0.040 | 8 | 142322332 | intron variant | G/A | snv | 0.68 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.925 | 0.040 | 8 | 142230292 | intron variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 8 | 142228143 | intron variant | C/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
8 | 142302333 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 142270206 | intron variant | T/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 142235609 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 8 | 142235609 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 8 | 142244830 | intron variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
8 | 142280097 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 8 | 142275662 | intron variant | G/A | snv | 9.7E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 8 | 142389482 | intron variant | A/G | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
8 | 142218918 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 8 | 142230292 | intron variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 8 | 142230292 | intron variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 142238758 | intron variant | GCCCGCCCCTGCAC/-;GCCCGCCCCTGCACGCCCGCCCCTGCAC | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
8 | 142402242 | intron variant | T/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 8 | 142252164 | intron variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 8 | 142252164 | intron variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
8 | 142251870 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 8 | 142276955 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |