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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 8 | 116846150 | 3 prime UTR variant | G/A | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 1 | 109740350 | 5 prime UTR variant | G/T | snv | 0.64 | 0.66 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.776 | 0.160 | 9 | 97853632 | 5 prime UTR variant | A/G | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 10 | 68882104 | missense variant | T/C | snv | 0.62 | 0.57 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.776 | 0.160 | 19 | 45421104 | intron variant | G/C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.732 | 0.520 | 9 | 117702447 | upstream gene variant | G/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 4 | 73435667 | intron variant | G/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins | 0.48 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 2 | 31024648 | intron variant | G/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 18 | 48868651 | intergenic variant | A/G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.240 | 15 | 39581120 | 5 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.120 | 22 | 23775338 | intron variant | C/T | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
12 | 96051770 | intergenic variant | C/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.240 | 4 | 102597148 | intron variant | A/G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.160 | 19 | 45407414 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |