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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 |
|
0.800 | 1.000 | 11 | 2009 | 2019 | ||||||||
|
0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 |
|
0.800 | 1.000 | 11 | 2009 | 2019 | ||||||||
|
10 | 93079885 | downstream gene variant | G/A | snv | 0.42 |
|
0.800 | 1.000 | 6 | 2010 | 2019 | ||||||||||
|
0.851 | 0.200 | 19 | 44911194 | non coding transcript exon variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 |
|
0.800 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 |
|
0.800 | 1.000 | 5 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 19975135 | regulatory region variant | G/T | snv | 8.8E-02 |
|
0.800 | 1.000 | 5 | 2007 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 5 | 2017 | 2019 | ||||||||
|
0.882 | 0.040 | 11 | 116715567 | regulatory region variant | T/C | snv | 0.93 |
|
0.700 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
8 | 20054859 | intergenic variant | G/A | snv | 9.8E-02 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | ||||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
8 | 125470379 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 4 | 2017 | 2019 | |||||||||||
|
0.882 | 0.040 | 2 | 226235982 | intergenic variant | G/T | snv | 0.72 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 |
|
0.800 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
20 | 45925376 | downstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||||||
|
8 | 125483576 | intron variant | C/T | snv | 0.39 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 62726106 | regulatory region variant | C/T | snv | 0.16 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 116733008 | TF binding site variant | C/A | snv | 9.8E-02 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
8 | 18415790 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 19990569 | intergenic variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
8 | 125479491 | intron variant | G/T | snv | 0.42 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||||
|
2 | 20998163 | downstream gene variant | A/C | snv | 0.76 |
|
0.700 | 1.000 | 3 | 2015 | 2019 |