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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 9 | 14190288 | intron variant | A/T | snv | 0.81 |
|
0.720 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.080 | 19 | 45361744 | non coding transcript exon variant | C/A | snv | 0.58 | 0.64 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.882 | 0.040 | 17 | 59832902 | intron variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.240 | 19 | 43575535 | 5 prime UTR variant | G/A | snv | 0.65 | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 2 | 6321289 | intron variant | A/C | snv | 0.57 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.100 | 0.818 | 11 | 2012 | 2018 | |||||||
|
0.882 | 0.040 | 6 | 160047246 | synonymous variant | A/G | snv | 0.53 | 0.54 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.080 | 14 | 101041390 | non coding transcript exon variant | C/T | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.790 | 0.160 | 9 | 21816529 | intron variant | A/G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.120 | 17 | 75645819 | intron variant | G/A | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.040 | 19 | 53894400 | intron variant | C/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 3 | 50334001 | intron variant | C/A | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 16 | 58553833 | synonymous variant | C/T | snv | 0.35 | 0.39 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 2 | 127283339 | intron variant | T/C | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |