| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 63695235 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 53340210 | upstream gene variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 23264082 | intron variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 23251368 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 80940826 | TF binding site variant | T/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 49576607 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 145681495 | upstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
21 | 36159924 | intron variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 135795612 | intron variant | A/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 55393137 | intron variant | C/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 9 | 120980540 | intron variant | G/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
19 | 51122980 | upstream gene variant | A/G | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
19 | 35050344 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 4254755 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 5840915 | upstream gene variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 51000397 | non coding transcript exon variant | T/C | snv | 8.3E-02 | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
19 | 53824615 | upstream gene variant | T/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 49534760 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 43183618 | intron variant | C/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 5833268 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 11596643 | intron variant | A/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 53818679 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 186677647 | missense variant | C/A;T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 186677783 | missense variant | A/G;T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |