| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 46294038 | upstream gene variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 20506584 | intergenic variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 124002131 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
14 | 103824476 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 73611645 | intron variant | A/G | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 73748480 | intergenic variant | A/G | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 109223867 | missense variant | A/G | snv | 7.6E-04 | 8.4E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
14 | 51958788 | intron variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 11 | 61820833 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 11 | 61824890 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 61851136 | intron variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
5 | 88887834 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 40396586 | intron variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.040 | 6 | 140064258 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 2 | 27578892 | missense variant | A/G | snv | 0.30 | 0.24 |
|
0.800 | 1.000 | 1 | 2011 | 2012 | |||||||
|
1 | 26661155 | intergenic variant | A/G | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.080 | 8 | 20007664 | intergenic variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
8 | 9323885 | intron variant | A/G | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 66586562 | intron variant | A/G | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 65060762 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.120 | 6 | 36677919 | 5 prime UTR variant | A/G | snv | 0.43 | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
19 | 51225385 | missense variant | A/G | snv | 0.35 | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
4 | 68502154 | downstream gene variant | A/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |