| 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 | 2 | 226115660 | intergenic variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 165633833 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 20 | 38922292 | 3 prime UTR variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 53786154 | intron variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 9 | 104376689 | intergenic variant | A/G | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 99332551 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 4 | 161890417 | intron variant | C/T | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 49957256 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 11 | 133925624 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 6 | 91209048 | intergenic variant | C/T | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 8 | 101819970 | intron variant | G/A | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 4 | 99346215 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 15 | 77516256 | intergenic variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
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 | ||||||||
|
1.000 | 0.080 | 10 | 119445148 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 115311376 | intergenic variant | -/CAA | ins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 55278320 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 4 | 99336850 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 129236759 | intergenic variant | A/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 99315605 | non coding transcript exon variant | C/T | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 99150767 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 10 | 109063325 | intergenic variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |