| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 6 | 160073377 | missense variant | A/C;G;T | snv | 0.90 | 0.91 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.080 | 4 | 186081871 | non coding transcript exon variant | C/G | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 11 | 2132404 | 3 prime UTR variant | T/C;G | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 8 | 42328734 | intron variant | T/C | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 2 | 178437157 | intron variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 4 | 99317955 | non coding transcript exon variant | A/C | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 17 | 7260420 | missense variant | A/G | snv | 0.65 | 0.70 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.080 | 1 | 65469811 | intron variant | G/A | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.160 | 12 | 57472038 | missense variant | G/C | snv | 0.60 | 0.68 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.732 | 0.160 | 15 | 32702555 | intergenic variant | T/C | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 1 | 26419836 | intron variant | A/G | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 4 | 99349450 | intron variant | C/T | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 15 | 51329528 | intron variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.080 | 6 | 158014540 | intron variant | A/C;G | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 3 | 122282024 | intron variant | C/T | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |