| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 3 | 37969217 | intron variant | T/C | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 8 | 42328734 | intron variant | T/C | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 22 | 35067169 | missense variant | A/G | snv | 0.71 | 0.73 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 10 | 133536297 | intron variant | T/C | snv | 0.73 |
|
0.020 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.925 | 0.120 | 19 | 48048700 | intron variant | A/T | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 11 | 111299815 | missense variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.080 | 11 | 111286111 | 3 prime UTR variant | T/C | snv | 0.72 |
|
0.710 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 133611099 | synonymous variant | G/A | snv | 0.69 | 0.72 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 2 | 11343366 | intron variant | A/G | snv | 0.72 |
|
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 | ||||||||
|
0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.763 | 0.240 | 9 | 125241745 | non coding transcript exon variant | T/C | snv | 0.72 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.833 | 24 | 2004 | 2016 | |||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.030 | 1.000 | 3 | 2007 | 2016 | ||||||||
|
0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 |
|
0.900 | 1.000 | 15 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 29478491 | intergenic variant | T/C | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 241520405 | upstream gene variant | C/A;T | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.100 | 0.824 | 17 | 2012 | 2018 | |||||||
|
1.000 | 0.080 | 11 | 111283347 | intron variant | A/C | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.160 | 5 | 80873118 | missense variant | G/A | snv | 0.73 | 0.70 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 13 | 90145067 | intergenic variant | C/G | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 3 | 8913705 | missense variant | C/T | snv | 0.68 | 0.70 |
|
0.020 | 1.000 | 2 | 2007 | 2012 |