| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 45517829 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2018 | |||||||||||
|
0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 |
|
0.800 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
1 | 182199750 | intron variant | A/G | snv | 0.34 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
0.925 | 0.080 | 8 | 20007664 | intergenic variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
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 | ||||||||||
|
8 | 19961928 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
4 | 26061368 | regulatory region variant | A/G | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
2 | 202554561 | intron variant | A/G | snv | 7.0E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 58431227 | intron variant | A/G | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
16 | 56972466 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 54607190 | upstream gene variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
0.827 | 0.200 | 16 | 3254739 | missense variant | A/G | snv | 6.6E-03 | 2.2E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 230711777 | intron variant | A/G | snv | 3.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 662135 | intron variant | A/G | snv | 8.2E-03 | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
18 | 49572816 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.120 | 7 | 73575060 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
10 | 87944637 | intron variant | A/G | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56904104 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 16 | 67674994 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2010 | 2010 |