| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 5 | 39394887 | intron variant | C/A | snv | 0.98 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 10 | 17146475 | 3 prime UTR variant | C/T | snv | 0.95 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 6 | 3010156 | missense variant | C/T | snv | 0.79 | 0.84 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 17 | 37718512 | intron variant | A/G | snv | 0.82 |
|
0.710 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 17 | 37717865 | intron variant | C/A | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 9 | 133474633 | intron variant | T/C | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 3 | 13029299 | intron variant | A/G | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.040 | 1.000 | 4 | 2006 | 2016 | |||||||
|
0.925 | 0.120 | 3 | 196024759 | intron variant | T/C | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 1 | 959193 | intron variant | G/A | snv | 0.82 | 0.69 |
|
0.710 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 8 | 125469233 | intron variant | A/T | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 21 | 34085692 | intron variant | C/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 11 | 27501639 | intron variant | G/T | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 13 | 28308924 | synonymous variant | G/A | snv | 0.80 | 0.67 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 2 | 67366671 | intron variant | C/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.240 | 8 | 75558169 | intron variant | G/A | snv | 0.65 |
|
0.710 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.280 | 8 | 128555832 | intron variant | C/T | snv | 0.65 |
|
0.710 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.925 | 0.120 | 9 | 22103342 | intron variant | T/G | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 160413796 | intron variant | T/C | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 9 | 104103411 | intron variant | G/T | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |