| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 4 | 2016 | 2019 | |||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.708 | 0.520 | 14 | 35401887 | 3 prime UTR variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.440 | 6 | 31973120 | non coding transcript exon variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 |
|
0.800 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
0.807 | 0.360 | 6 | 31090563 | intergenic variant | C/A | snv | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.320 | 12 | 69350234 | missense variant | C/A | snv | 4.2E-02 | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.776 | 0.320 | 6 | 31572779 | missense variant | T/C | snv | 0.27 | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.851 | 0.240 | 11 | 61803910 | 5 prime UTR variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.776 | 0.240 | 5 | 1285859 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.160 | 6 | 32445682 | downstream gene variant | G/A | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.160 | 19 | 51224706 | upstream gene variant | C/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |