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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 |
|
0.030 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 |
|
0.030 | 1.000 | 3 | 2010 | 2018 | |||||||
|
0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 |
|
0.020 | 1.000 | 2 | 2001 | 2013 | |||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.020 | 0.500 | 2 | 2001 | 2003 | |||||||
|
0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.160 | 10 | 102900499 | non coding transcript exon variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1988 | 1988 | ||||||||
|
0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 19 | 44907777 | missense variant | G/A | snv | 3.6E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.851 | 0.160 | 21 | 43058215 | missense variant | G/A | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 7 | 99664039 | missense variant | T/C | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.645 | 0.560 | 14 | 64257333 | synonymous variant | C/T | snv | 6.7E-02 | 6.3E-02 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 8 | 19939444 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.851 | 0.120 | 19 | 44909080 | missense variant | G/A | snv | 2.0E-04 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
1.000 | 0.040 | 22 | 50627185 | missense variant | A/G | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.320 | 19 | 47341767 | missense variant | G/A;C;T | snv | 4.0E-06; 9.6E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 |