| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 6 | 159691552 | 3 prime UTR variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.807 | 0.200 | 6 | 159682052 | 3 prime UTR variant | C/T | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 11 | 35229771 | 3 prime UTR variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.807 | 0.240 | 8 | 127081052 | non coding transcript exon variant | C/T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 11 | 13388251 | 3 prime UTR variant | A/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 10 | 94308190 | intron variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 19 | 57231104 | 5 prime UTR variant | G/A;C;T | snv | 0.87; 3.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 4 | 55547664 | non coding transcript exon variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 19 | 55368504 | synonymous variant | C/G;T | snv | 4.1E-06; 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 55364706 | 3 prime UTR variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.724 | 0.280 | 17 | 72404025 | non coding transcript exon variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 10 | 29602331 | mature miRNA variant | C/T | snv | 0.22 | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.160 | 8 | 127082911 | non coding transcript exon variant | A/G | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 5 | 1268529 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.280 | 5 | 7878066 | missense variant | C/T | snv | 0.31 | 0.32 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.695 | 0.520 | 4 | 55106807 | missense variant | T/A | snv | 0.22 | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 4 | 112648384 | mature miRNA variant | ACTT/- | delins | 2.1E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |