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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.240 | 4 | 1804365 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.800 | 1.000 | 1 | 2005 | 2005 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2005 | 2005 | |||||
|
37 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 4 | 1806619 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.710 | 1.000 | 1 | 2007 | 2007 | |||||
|
10 | 0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
41 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | 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 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 |