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 | 0.040 | 7 | 50544037 | missense variant | T/C | snv | 1.00 | 0.99 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
19 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 0.020 | 1.000 | 2 | 2011 | 2015 | |||
|
12 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.120 | 6 | 55277539 | missense variant | A/G;T | snv | 0.84; 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 22 | 23285182 | missense variant | A/G | snv | 0.81 | 0.86 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.200 | 8 | 20179202 | missense variant | A/G | snv | 0.71 | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.040 | 12 | 79621127 | missense variant | A/C;T | snv | 0.10; 0.70 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.160 | 4 | 55443825 | synonymous variant | A/G | snv | 0.70 | 0.69 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 4 | 157317678 | synonymous variant | T/C | snv | 0.67 | 0.62 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.040 | 2 | 184936178 | missense variant | A/T | snv | 0.66 | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.807 | 0.040 | X | 43731789 | synonymous variant | G/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 1 | 90020853 | synonymous variant | T/G | snv | 0.63 | 0.62 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 21 | 46431839 | missense variant | A/G | snv | 0.63 | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.030 | 1.000 | 3 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 90027467 | synonymous variant | G/A | snv | 0.61; 1.2E-05 | 0.57 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
17 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
8 | 0.807 | 0.200 | 12 | 71979082 | synonymous variant | A/C;G;T | snv | 4.0E-06; 0.56 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.807 | 0.080 | 1 | 31626924 | missense variant | A/G | snv | 0.56 | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.030 | 0.333 | 3 | 2007 | 2019 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
9 | 0.790 | 0.320 | 12 | 121162450 | missense variant | T/A;C;G | snv | 0.51 | 0.010 | < 0.001 | 1 | 2011 | 2011 |