| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | MT | 10310 | synonymous variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.080 | 14 | 103137232 | 3 prime UTR variant | C/T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.080 | 0.750 | 8 | 2004 | 2015 | |||||||
|
0.925 | 0.080 | 14 | 103716661 | intron variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | MT | 10398 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | MT | 10400 | synonymous variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 2 | 104762499 | upstream gene variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.120 | 14 | 104797271 | upstream gene variant | A/G | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | X | 108084839 | 3 prime UTR variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 6 | 110879025 | intron variant | G/A | snv | 0.87 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 6 | 110891080 | non coding transcript exon variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.040 | 0.750 | 4 | 2014 | 2019 | ||||||||
|
0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.070 | 1.000 | 7 | 2013 | 2018 | |||||||
|
0.925 | 0.080 | 12 | 111806609 | intron variant | C/T | snv | 8.6E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 11228701 | missense variant | G/A;T | snv | 0.75; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.120 | 12 | 112452972 | intron variant | A/G | snv | 0.21 |
|
0.020 | 0.500 | 2 | 2009 | 2016 | ||||||||
|
0.925 | 0.080 | 7 | 112457066 | missense variant | C/T | snv | 0.17 | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.200 | 7 | 112465699 | intron variant | G/T | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.240 | 12 | 112485589 | intron variant | G/A | snv | 1.4E-02 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2019 |