| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 128212497 | intron variant | G/A | snv | 0.89 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
2 | 136064309 | regulatory region variant | C/- | delins | 0.51 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||||
|
18 | 8801353 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
4 | 144549452 | intron variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 2 | 2015 | 2015 | ||||||||||
|
1.000 | 0.040 | 10 | 12235993 | intron variant | C/T | snv | 0.43 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
10 | 12236022 | intron variant | T/A | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
5 | 148476829 | intron variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||||
|
6 | 142424746 | intron variant | T/G | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
0.742 | 0.240 | 15 | 78618839 | synonymous variant | T/C | snv | 0.35 | 0.37 |
|
0.800 | 1.000 | 2 | 2012 | 2015 | |||||||
|
18 | 10078074 | regulatory region variant | G/A | snv | 0.22 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
4 | 89007052 | intron variant | T/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
4 | 88911381 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
4 | 88829210 | intron variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
4 | 88919909 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
5 | 171474459 | regulatory region variant | T/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 204457167 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 74350715 | intron variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 78675837 | intron variant | G/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
4 | 144513432 | intron variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
4 | 144513592 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
12 | 95877650 | intron variant | T/C | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 218432119 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 218432293 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
6 | 7797607 | intron variant | C/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 187825554 | intergenic variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |