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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 4 | 1801930 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 4 | 1806164 | missense variant | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 1799488 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 1801886 | missense variant | C/T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 1803785 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 1804396 | missense variant | T/A;G | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 1801518 | synonymous variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 1801896 | synonymous variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 1803731 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 1803744 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.120 | 10 | 121488003 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.120 | 8 | 38414814 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 1.000 | 0.120 | 10 | 121488017 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.120 | 8 | 38415967 | missense variant | T/A;G | snv | 4.0E-06; 1.2E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.120 | 10 | 121498530 | missense variant | T/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.120 | 4 | 1805643 | missense variant | A/C;G | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.320 | 8 | 38414872 | missense variant | A/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
9 | 0.763 | 0.360 | 4 | 1799395 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.120 | 4 | 1805396 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.120 | 4 | 1801928 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 20 | 38139648 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |