| 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 | 0.080 | 11 | 88232053 | regulatory region variant | C/T | snv | 0.70 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 20 | 12116249 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv |
|
0.840 | 1.000 | 2 | 2011 | 2017 | |||||||||
|
0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 2 | 71808541 | regulatory region variant | T/C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.320 | 6 | 32696681 | intergenic variant | T/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.320 | 6 | 32687441 | regulatory region variant | T/A;C;G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.360 | 6 | 32702478 | downstream gene variant | C/T | snv | 0.34 |
|
0.750 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.120 | 6 | 32699985 | intergenic variant | A/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 6 | 30233096 | downstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.776 | 0.360 | 6 | 32421871 | intergenic variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 7 | 91917013 | intergenic variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.200 | 6 | 32695787 | intergenic variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.807 | 0.360 | 6 | 32689801 | TF binding site variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.200 | 6 | 32622686 | TF binding site variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.280 | 6 | 32697951 | intergenic variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.200 | 6 | 32698518 | intergenic variant | A/G | snv | 0.15 |
|
0.850 | 0.800 | 1 | 2013 | 2018 | ||||||||
|
0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 5 | 112839461 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 5 | 112828923 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv |
|
0.700 | 0 |