| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 89080244 | intron variant | A/C | snv | 0.57 |
|
0.800 | 1.000 | 3 | 2009 | 2018 | ||||||||||
|
2 | 40403538 | intron variant | A/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 52652733 | intron variant | A/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 44148179 | missense variant | A/C | snv | 0.40 | 0.48 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
11 | 30889444 | intron variant | A/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
21 | 36112764 | intron variant | A/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 34250798 | intron variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 35038899 | intron variant | A/C | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 121551197 | intergenic variant | A/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 156974418 | intron variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 127147129 | intron variant | A/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
11 | 87012962 | intron variant | A/C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 121334711 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2012 | 2018 | |||||||||||
|
7 | 37898820 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
15 | 67269876 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 47190235 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 151689119 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
18 | 62387624 | 3 prime UTR variant | A/C;T | snv |
|
0.800 | 1.000 | 4 | 2009 | 2018 | |||||||||||
|
6 | 126845927 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2018 | |||||||||||
|
12 | 116117981 | intron variant | A/C;T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.160 | 1 | 22371954 | intergenic variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 4 | 2008 | 2011 | ||||||||
|
2 | 54457420 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 3 | 2008 | 2018 | ||||||||||
|
7 | 121343289 | downstream gene variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||||
|
0.882 | 0.160 | 6 | 151612040 | intron variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
7 | 121145010 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2012 | 2017 |