| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 111158319 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 136131638 | intergenic variant | A/G | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 249924 | intron variant | A/G | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 46313128 | upstream gene variant | A/G | snv | 2.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 34886094 | intergenic variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 78232042 | regulatory region variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 41942834 | non coding transcript exon variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 141484141 | upstream gene variant | A/G | snv | 2.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
19 | 42248882 | synonymous variant | A/G | snv | 9.7E-02 | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
19 | 18005335 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 173780350 | non coding transcript exon variant | A/G | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 168864871 | synonymous variant | A/G | snv | 4.0E-06; 0.27 | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
19 | 6675978 | downstream gene variant | A/G | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 44210980 | non coding transcript exon variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 50267738 | upstream gene variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 30207976 | regulatory region variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 40643980 | regulatory region variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 59857293 | downstream gene variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 151187456 | missense variant | A/G | snv | 3.7E-02 | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
6 | 41200025 | intron variant | A/G | snv | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 135934983 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
15 | 64337674 | intron variant | A/G | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 6 | 44264337 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |