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 | 0.200 | 6 | 31636267 | missense variant | T/G | snv | 0.96 | 0.95 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 1.000 | 0.950 | 80 | 2004 | 2020 | |||
|
8 | 0.790 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.240 | 6 | 32179984 | intron variant | T/A;C | snv | 0.89 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
12 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.240 | 6 | 32443949 | intron variant | G/A | snv | 0.82 | 0.80 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.240 | 6 | 32369909 | missense variant | A/G;T | snv | 0.81 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.200 | 6 | 31659746 | missense variant | C/T | snv | 0.79 | 0.74 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
18 | 0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
16 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
9 | 0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 | 0.790 | 1.000 | 12 | 2009 | 2019 | |||
|
1 | 1.000 | 0.120 | 11 | 2159830 | missense variant | T/G | snv | 0.73 | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.120 | 20 | 1635560 | missense variant | A/G | snv | 0.73 | 0.72 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
8 | 0.827 | 0.240 | 17 | 3589906 | missense variant | C/A;G;T | snv | 0.72; 4.5E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.882 | 0.120 | 2 | 181678728 | missense variant | T/C | snv | 0.70 | 0.68 | 0.090 | 0.778 | 9 | 1999 | 2005 | |||
|
32 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.732 | 0.360 | 2 | 162272314 | missense variant | T/C | snv | 0.68 | 0.68 | 0.030 | 1.000 | 3 | 2012 | 2015 | |||
|
14 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 0.030 | 0.667 | 3 | 2006 | 2009 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.820 | 1.000 | 6 | 2009 | 2018 | ||||
|
6 | 0.851 | 0.200 | 17 | 7283804 | missense variant | T/A;C | snv | 0.65 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 2 | 191058115 | splice region variant | G/A | snv | 0.64 | 0.56 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.030 | 0.667 | 3 | 2004 | 2012 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.010 | 1.000 | 1 | 2014 | 2014 |