| 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 | 10 | 98367794 | regulatory region variant | G/A | snv | 9.5E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
10 | 99397681 | stop gained | G/A;C | snv | 4.0E-06; 5.2E-03 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
4 | 87254878 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 232639279 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 134842306 | intron variant | T/C | snv | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 7 | 21480514 | intron variant | G/A | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
10 | 99372525 | intron variant | A/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 17933413 | intergenic variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
12 | 109631385 | intergenic variant | G/T | snv | 1.2E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 95305887 | intron variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
6 | 33108491 | upstream gene variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 32223562 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 2809077 | intron variant | C/T | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 110871498 | non coding transcript exon variant | T/C | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 11 | 3147308 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
19 | 40827379 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.120 | 12 | 112136812 | intron variant | C/T | snv | 5.9E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
12 | 129167622 | intron variant | T/C | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 107800953 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 120706484 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 94074274 | intron variant | C/T | snv | 6.8E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 61567782 | downstream gene variant | G/A | snv | 9.3E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 9 | 9797383 | intron variant | A/G | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
7 | 80545045 | intron variant | T/C | snv | 2.8E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |