| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 65705318 | intron variant | C/A | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 154584187 | 3 prime UTR variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 56965416 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.851 | 0.120 | 12 | 3060327 | intergenic variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 11 | 123009573 | intergenic variant | G/A | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1 | 159700546 | downstream gene variant | C/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
2 | 113080525 | downstream gene variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 3 | 102036894 | TF binding site variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
8 | 20008052 | intergenic variant | G/C | snv | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 35062437 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.851 | 0.120 | 7 | 19177581 | regulatory region variant | G/A | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 2 | 27412596 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.120 | 4 | 139829967 | intron variant | G/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 121824730 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.240 | 7 | 73462836 | non coding transcript exon variant | T/C | snv | 9.2E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.851 | 0.120 | 2 | 146120964 | regulatory region variant | T/C | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
22 | 38181508 | intron variant | G/A | snv | 0.53 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
0.925 | 0.160 | 6 | 31291802 | intron variant | C/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
12 | 120657369 | intron variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.851 | 0.120 | 20 | 41322165 | upstream gene variant | A/T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |