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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 63104668 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
11 | 10367235 | intron variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
0.882 | 0.040 | 2 | 226235982 | intergenic variant | G/T | snv | 0.72 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
11 | 46721697 | intron variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
0.882 | 0.200 | 7 | 80671133 | stop gained | T/G | snv | 6.2E-03 | 2.6E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
8 | 19961928 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||
|
19 | 54288907 | intergenic variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||||
|
17 | 78407903 | intron variant | G/A | snv | 0.46 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
17 | 68879153 | non coding transcript exon variant | C/G | snv | 0.40 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
1 | 39562508 | non coding transcript exon variant | A/C;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||||||
|
0.925 | 0.120 | 7 | 130748625 | intergenic variant | C/T | snv | 0.40 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
12 | 123311691 | intron variant | C/T | snv | 7.8E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
12 | 123975620 | intron variant | G/T | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
1.000 | 0.040 | 20 | 45916409 | upstream gene variant | C/T | snv | 0.68 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 49640844 | TF binding site variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||||
|
9 | 15305380 | intron variant | G/C | snv | 0.72 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
1.000 | 0.040 | 16 | 56973441 | synonymous variant | C/T | snv | 5.1E-02 | 6.6E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||||
|
6 | 139508529 | intron variant | C/T | snv | 0.53 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
20 | 45925376 | downstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||||
|
5 | 54002195 | intron variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 2 | 2010 | 2018 |