Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.200 | 6 | 31642909 | missense variant | A/G | snv | 0.51 | 0.44 | 0.020 | 1.000 | 2 | 2014 | 2014 | |||
|
3 | 0.882 | 0.080 | 19 | 7911079 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
24 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.090 | 1.000 | 9 | 2005 | 2016 | ||||
|
12 | 0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.100 | 0.968 | 31 | 2006 | 2019 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.100 | 0.968 | 31 | 2006 | 2019 | |||||
|
4 | 0.882 | 0.080 | 17 | 39724772 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
15 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.776 | 0.160 | 22 | 21772875 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
34 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.080 | 17 | 7673777 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
7 | 0.790 | 0.200 | 4 | 141733279 | 3 prime UTR variant | A/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.080 | 1 | 45332251 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.080 | 5 | 112835135 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.827 | 0.080 | 15 | 78500185 | 3 prime UTR variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.160 | 8 | 89934373 | 3 prime UTR variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.200 | 3 | 188877884 | 3 prime UTR variant | G/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 0.010 | 1.000 | 1 | 2019 | 2019 |