| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 124779741 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
18 | 60181790 | intergenic variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 3 | 2010 | 2016 | ||||||||||
|
1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2008 | 2016 | |||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
10 | 63267850 | intron variant | A/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 37162788 | intergenic variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 198036671 | intron variant | T/C | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 57340143 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 49677038 | intergenic variant | G/A | 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 | 26958704 | intron variant | C/T | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.120 | 7 | 73497513 | intron variant | T/C | snv | 9.2E-02 |
|
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 | ||||||||
|
0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 |
|
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 | |||||||||
|
16 | 68252524 | intron variant | C/A | snv | 0.14 | 0.11 |
|
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 | ||||||||
|
6 | 127111512 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.807 | 0.240 | 7 | 73462836 | non coding transcript exon variant | T/C | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 2 | 146120964 | regulatory region variant | T/C | snv | 0.94 |
|
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 |