| 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 | 0.120 | 22 | 19750832 | intergenic variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 8 | 14611016 | intron variant | C/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 8 | 21125392 | intron variant | G/A | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 2 | 30226728 | upstream gene variant | G/A | snv | 0.51 |
|
0.800 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 |
|
0.820 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.200 | 2 | 60877850 | intron variant | A/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 2 | 100056230 | intron variant | C/T | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 7 | 101299780 | non coding transcript exon variant | G/A | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 22 | 30285268 | 3 prime UTR variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.200 | 6 | 32827255 | 3 prime UTR variant | G/A | snv | 6.1E-02 |
|
0.800 | 1.000 | 1 | 2007 | 2016 | ||||||||
|
0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 |
|
0.820 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
1.000 | 0.120 | 1 | 161505960 | non coding transcript exon variant | G/A | snv | 0.10 | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 |
|
0.880 | 1.000 | 1 | 2007 | 2016 | ||||||||
|
1.000 | 0.120 | 15 | 95598638 | regulatory region variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 12 | 57698305 | intron variant | -/ACTT | delins | 0.61 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 9 | 119426326 | intergenic variant | G/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 9 | 120900340 | downstream gene variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.160 | 12 | 111395984 | intron variant | G/A | snv | 0.67 |
|
0.810 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 11 | 118858682 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.925 | 0.200 | 10 | 6066377 | upstream gene variant | A/G | snv | 0.40 |
|
0.800 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
1.000 | 0.120 | 10 | 62025330 | 3 prime UTR variant | G/T | snv | 0.66 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 11 | 118741072 | intron variant | G/A;T | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.160 | 7 | 128949579 | 3 prime UTR variant | C/T | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 9 | 120873843 | intron variant | C/A | snv | 0.47 |
|
0.800 | 1.000 | 2 | 2014 | 2019 |