| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.200 | 9 | 136364897 | non coding transcript exon variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.200 | 12 | 102431143 | intron variant | T/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 2 | 55869757 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 8 | 144280310 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 155179017 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 7127843 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.120 | 2 | 88595833 | non coding transcript exon variant | T/C | snv | 0.70 | 0.77 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 6 | 7562999 | intron variant | T/G | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 2 | 217818431 | missense variant | A/G;T | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 10 | 21541175 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 126470949 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 140914412 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 17 | 46770468 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 15 | 39588621 | missense variant | A/C;G | snv | 4.0E-06; 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 108224853 | missense variant | C/T | snv | 0.27 | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 3 | 12800724 | intron variant | T/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 9 | 133271182 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 3 | 141435700 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 18872166 | intron variant | C/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 4 | 144700176 | intron variant | G/A | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 1 | 91611540 | TF binding site variant | G/A | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2019 | 2019 |