| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.160 | 11 | 65637829 | upstream gene variant | G/A | snv | 0.49 |
|
0.030 | < 0.001 | 3 | 2009 | 2014 | ||||||||
|
0.851 | 0.200 | 5 | 83353158 | synonymous variant | T/A;G | snv | 4.0E-06; 0.23 |
|
0.020 | < 0.001 | 2 | 2012 | 2013 | ||||||||
|
0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 |
|
0.020 | < 0.001 | 2 | 2006 | 2010 | |||||||
|
0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 |
|
0.020 | < 0.001 | 2 | 2012 | 2013 | |||||||
|
0.776 | 0.280 | 11 | 1995389 | non coding transcript exon variant | A/G | snv | 0.42 |
|
0.020 | < 0.001 | 2 | 2016 | 2019 | ||||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.020 | < 0.001 | 2 | 2004 | 2012 | |||||||
|
0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.080 | 5 | 163490702 | intron variant | G/A | snv | 9.2E-02 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 15 | 78897790 | 3 prime UTR variant | T/C | snv | 0.13 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.752 | 0.240 | 17 | 7673799 | missense variant | A/C;G;T | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 17 | 8205013 | missense variant | A/G | snv | 0.83 | 0.81 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.200 | 10 | 125773956 | missense variant | A/G | snv | 0.76 | 0.78 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 16 | 52543923 | intron variant | T/A | snv | 0.51 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 22 | 23894794 | missense variant | C/G;T | snv | 6.1E-06 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 9 | 128149642 | missense variant | G/T | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.200 | 13 | 32356461 | missense variant | T/C | snv | 1.9E-02 | 8.5E-03 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.776 | 0.160 | 17 | 43126360 | intron variant | G/A | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.200 | 1 | 204559956 | downstream gene variant | G/A | snv | 0.16 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 4 | 88121789 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 1 | 230710112 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 2 | 8731159 | missense variant | C/A;T | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.240 | 10 | 14383222 | mature miRNA variant | G/C;T | snv | 4.9E-03 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 15 | 74750300 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 |