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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 10 | 112994312 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 4 | 2014 | 2018 | ||||||||
|
1.000 | 0.080 | 3 | 186947857 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 4275678 | intron variant | T/G | snv | 1.5E-02 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.925 | 0.120 | 9 | 4291928 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 112978018 | intron variant | C/T | snv | 5.8E-03 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 37001668 | intergenic variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
1.000 | 0.080 | 15 | 77489993 | upstream gene variant | A/G | snv | 0.63 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 14751196 | missense variant | C/T | snv | 3.1E-03 | 3.3E-03 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 9 | 22301093 | intergenic variant | T/A | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 6300792 | missense variant | G/A;C;T | snv | 0.78 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 39370145 | missense variant | A/G;T | snv | 0.19; 8.0E-06 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.925 | 0.120 | 5 | 75707853 | missense variant | T/A;C | snv | 4.5E-06; 0.47 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 2 | 622827 | intergenic variant | T/A;C | snv | 0.85 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 229537208 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 39570256 | intron variant | G/T | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 113120583 | intron variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 1782676 | regulatory region variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 13 | 32980164 | intergenic variant | G/A | snv | 0.69 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 50790419 | intron variant | C/T | snv | 8.3E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 160345738 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
1.000 | 0.080 | 2 | 164694691 | missense variant | T/C | snv | 0.11 | 0.13 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||
|
1.000 | 0.080 | 13 | 91287915 | intergenic variant | T/A;C | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.882 | 0.160 | 6 | 7231610 | missense variant | G/A | snv | 0.11 | 8.9E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1.000 | 0.080 | 16 | 250642 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
1.000 | 0.080 | 4 | 152599127 | intergenic variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |