| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 123771169 | intergenic variant | A/C | snv | 6.5E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
12 | 54342686 | intron variant | A/C;G | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
1.000 | 0.120 | 6 | 33572432 | intron variant | A/G | snv | 0.72 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
15 | 64891602 | intron variant | A/G | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
15 | 63041525 | upstream gene variant | A/G | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
13 | 95245953 | intron variant | A/G | snv | 0.91 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 33573942 | intron variant | A/G | snv | 0.51 | 0.51 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||
|
2 | 31259434 | intron variant | A/G | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 12226148 | intergenic variant | A/G | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
14 | 93034681 | intron variant | A/G | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 4834394 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
10 | 63267850 | intron variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
0.925 | 0.080 | 8 | 105569300 | intron variant | A/T | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
12 | 112663189 | intron variant | C/A | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 4792339 | upstream gene variant | C/A;G;T | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
5 | 132484229 | non coding transcript exon variant | C/A;T | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
5 | 88856300 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
12 | 56629500 | intron variant | C/G | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
22 | 19996754 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.925 | 0.080 | 3 | 184372478 | 3 prime UTR variant | C/G;T | snv | 4.0E-06; 0.56 |
|
0.800 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
16 | 215160 | intron variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 43460740 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
19 | 45237513 | intron variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.080 | 14 | 103100448 | missense variant | C/T | snv | 0.22 | 0.20 |
|
0.800 | 1.000 | 1 | 2011 | 2011 |