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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.240 | 1 | 196727803 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.240 | 1 | 196713817 | synonymous variant | G/A;C;T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.240 | 15 | 78618839 | synonymous variant | T/C | snv | 0.35 | 0.37 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.200 | 15 | 78615690 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.160 | 15 | 78497146 | synonymous variant | C/T | snv | 0.54 | 0.51 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.160 | 1 | 196733680 | intron variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 15 | 78615314 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 15 | 78603787 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 4 | 88948181 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 1 | 196717522 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.120 | 15 | 78796769 | missense variant | A/G | snv | 0.34 | 0.33 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 11 | 102836574 | non coding transcript exon variant | G/A;T | snv | 0.12; 6.7E-06 | 0.10 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.120 | 15 | 78571130 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 14 | 92649065 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 14 | 92636964 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 15 | 78521704 | intron variant | G/A | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.080 | 15 | 78500185 | 3 prime UTR variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |