| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 153470288 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 95826771 | upstream gene variant | G/A | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 20062570 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 206080351 | intron variant | G/C | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 24914454 | intron variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 4172971 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 56152275 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
20 | 4182655 | synonymous variant | A/G | snv | 0.61 | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
3 | 72238120 | intron variant | CT/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 164696196 | non coding transcript exon variant | -/AATAA;AGTAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 56467292 | intron variant | AAAAA/-;A;AA;AAA;AAAA;AAAAAA;AAAAAAA;AAAAAAAA | delins | 0.87 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 218273447 | intron variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
12 | 56644387 | intron variant | A/-;AA | delins | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 65706327 | regulatory region variant | C/A | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 4852599 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 8825494 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 24929314 | intron variant | G/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 8824822 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 64085244 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 183873970 | intron variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 41953503 | intron variant | G/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 134700205 | intergenic variant | T/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 70884621 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 24913109 | intron variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 95575690 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |