| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv |
|
0.020 | 1.000 | 2 | 2010 | 2013 | |||||||||
|
0.851 | 0.160 | 12 | 4273870 | 5 prime UTR variant | C/T | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 17 | 7673589 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.882 | 0.160 | 5 | 157158243 | intron variant | T/C | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.807 | 0.160 | 2 | 102343821 | 3 prime UTR variant | C/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 19 | 53788157 | non coding transcript exon variant | A/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.240 | 9 | 125241745 | non coding transcript exon variant | T/C | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.200 | 2 | 241851697 | intron variant | G/A | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 1 | 241872080 | missense variant | C/T | snv | 0.11; 6.8E-05 | 7.6E-02 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.200 | 22 | 40410091 | 3 prime UTR variant | -/GTCT;GTCTGTCT | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.200 | 2 | 241855866 | intron variant | T/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.200 | 2 | 241853198 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.120 | 5 | 141625349 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 19 | 41009317 | missense variant | T/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |