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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.840 | 1.000 | 10 | 1995 | 2016 | |||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.830 | 0.889 | 9 | 1995 | 2011 | |||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.820 | 1.000 | 8 | 1995 | 2008 | |||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.810 | 1.000 | 7 | 1995 | 2016 | ||||
|
10 | 0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 | 0.810 | 1.000 | 6 | 1995 | 1999 | ||||
|
5 | 0.851 | 0.240 | 4 | 1804365 | missense variant | A/T | snv | 0.800 | 1.000 | 6 | 1995 | 1999 | |||||
|
3 | 0.882 | 0.080 | 4 | 1807260 | stop lost | T/A;C;G | snv | 0.720 | 1.000 | 2 | 2017 | 2019 | |||||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.720 | 1.000 | 2 | 1996 | 2002 | |||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 4 | 1807262 | stop gained | A/C;G;T | snv | 0.700 | 1.000 | 2 | 1995 | 2007 | |||||
|
9 | 0.763 | 0.360 | 4 | 1799395 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 1995 | 2013 | ||||
|
5 | 0.851 | 0.120 | 4 | 1806157 | missense variant | A/C;G;T | snv | 0.020 | 1.000 | 2 | 2000 | 2016 | |||||
|
3 | 0.882 | 0.120 | 21 | 36767227 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.120 | 4 | 1805638 | synonymous variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
17 | 0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.120 | 4 | 1805396 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 |