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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 12 | 63871057 | intron variant | G/A | snv | 0.15 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 10 | 36880367 | regulatory region variant | G/T | snv | 0.90 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 9 | 98998959 | intron variant | G/A;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 5 | 168286995 | upstream gene variant | C/T | snv | 2.1E-02 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 69576447 | intron variant | A/G | snv | 0.76 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 10 | 5049762 | intron variant | C/T | snv | 0.30 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 3 | 7963141 | intron variant | G/C;T | snv |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 6 | 28518321 | intron variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 1 | 37616450 | intron variant | G/A | snv | 0.24 | 0.21 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 3 | 166329716 | intergenic variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 1 | 20620263 | downstream gene variant | A/C | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 1 | 87773925 | intron variant | G/A | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 17 | 46710944 | intron variant | G/A | snv | 0.28 | 0.30 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 22141722 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 18 | 27347470 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 3 | 156689208 | intron variant | G/T | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 16 | 58942687 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 3 | 166315136 | intergenic variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |