| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 55485759 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
9 | 125506375 | missense variant | G/T | snv |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||||||
|
0.776 | 0.160 | 19 | 45407414 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.240 | 13 | 20189386 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.925 | 0.080 | 21 | 26844557 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.020 | 1.000 | 2 | 2015 | 2018 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.020 | 1.000 | 2 | 2015 | 2018 | |||||||||
|
0.882 | 0.120 | 15 | 90088607 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.807 | 0.120 | 5 | 119393693 | 3 prime UTR variant | A/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 10 | 87961033 | stop gained | -/ATATCTAG | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.927 | 41 | 2007 | 2018 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
2 | 201880120 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 18 | 24477006 | missense variant | A/G | snv | 8.6E-02 | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.240 | 19 | 13836482 | non coding transcript exon variant | G/A | snv | 1.2E-02 | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |