| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 54566349 | intron variant | -/CT | delins | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 999367 | intron variant | A/C | snv | 0.62 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
7 | 134565570 | intron variant | A/C | snv | 0.51 | 0.52 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
13 | 98474049 | intron variant | A/C | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
10 | 87578876 | intergenic variant | A/C | snv | 0.84 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | |||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
10 | 4007811 | intergenic variant | A/G | snv | 0.53 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
7 | 92134309 | missense variant | A/G | snv | 4.3E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
7 | 1872586 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
22 | 47136753 | intron variant | A/G | snv | 0.73 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
6 | 126665850 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 166292681 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
9 | 22056214 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
3 | 48445934 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
3 | 85482049 | intron variant | A/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
2 | 70537556 | intron variant | C/A | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
15 | 53513628 | downstream gene variant | C/A | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
13 | 18865983 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 133370917 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
13 | 89970201 | intergenic variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
17 | 81288009 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
12 | 131040508 | intron variant | C/A;T | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2010 | 2010 |