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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2009 | 2018 | |||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 120968809 | missense variant | C/T | snv | 3.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 9 | 21968756 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
17 | 0.716 | 0.440 | 10 | 51299646 | non coding transcript exon variant | T/C | snv | 0.25 | 0.24 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
4 | 0.851 | 0.120 | 11 | 102223635 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
37 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 52 | 1990 | 2017 | |||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.900 | 0.977 | 44 | 1990 | 2020 | ||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.820 | 1.000 | 43 | 1990 | 2018 | ||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.820 | 1.000 | 38 | 1990 | 2018 | ||||
|
8 | 0.807 | 0.160 | 17 | 7675139 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.810 | 1.000 | 37 | 1990 | 2017 | ||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.820 | 1.000 | 34 | 1990 | 2015 | ||||
|
8 | 0.807 | 0.280 | 17 | 7675157 | missense variant | G/A | snv | 8.0E-06 | 0.800 | 1.000 | 34 | 1990 | 2017 | ||||
|
25 | 0.677 | 0.480 | 17 | 7675089 | missense variant | G/A;C | snv | 1.6E-05 | 0.800 | 1.000 | 29 | 1990 | 2015 | ||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.820 | 1.000 | 28 | 1990 | 2017 | ||||
|
24 | 0.683 | 0.320 | 17 | 7675077 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.800 | 1.000 | 27 | 1990 | 2017 | ||||
|
7 | 0.807 | 0.200 | 17 | 7675071 | missense variant | G/A;T | snv | 0.800 | 1.000 | 27 | 1990 | 2017 | |||||
|
31 | 0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 26 | 1990 | 2017 | ||||
|
4 | 0.882 | 0.120 | 17 | 7675070 | missense variant | C/A;T | snv | 1.2E-05 | 0.800 | 1.000 | 26 | 1990 | 2016 | ||||
|
28 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.800 | 1.000 | 25 | 1990 | 2017 | |||||
|
31 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.810 | 1.000 | 24 | 1990 | 2015 |