| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.080 | 20 | 43904181 | regulatory region variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.776 | 0.080 | 6 | 55847326 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 18 | 48927678 | intron variant | A/G;T | snv |
|
0.710 | 1.000 | 2 | 2012 | 2019 | |||||||||
|
0.790 | 0.080 | 1 | 22261235 | regulatory region variant | T/C | snv | 6.2E-02 |
|
0.710 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.790 | 0.080 | 12 | 117309785 | intron variant | T/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.776 | 0.080 | 17 | 83104098 | upstream gene variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 3 | 66392011 | intron variant | C/G | snv | 0.66 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.790 | 0.080 | 16 | 86220445 | downstream gene variant | C/A | snv | 0.70 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
0.730 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.776 | 0.080 | 3 | 133982275 | intron variant | G/A | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 15 | 67884824 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 4 | 117780291 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.790 | 0.080 | 4 | 181892145 | intron variant | G/A | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 15 | 32733778 | 3 prime UTR variant | C/T | snv | 0.16 |
|
0.730 | 1.000 | 1 | 2008 | 2015 | ||||||||
|
0.790 | 0.080 | 6 | 138801103 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 |
|
0.720 | 1.000 | 1 | 2016 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 9 | 95150014 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 11 | 111318433 | upstream gene variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 8 | 127397266 | intron variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.080 | 10 | 50888694 | upstream gene variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 12 | 6297738 | regulatory region variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 12 | 6302870 | intergenic variant | T/G | snv | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |