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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.752 | 0.280 | 12 | 112473023 | missense variant | A/C;G | snv | 0.800 | 1.000 | 21 | 2002 | 2019 | |||||
|
24 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.780 | 1.000 | 24 | 2002 | 2018 | |||
|
13 | 0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv | 0.740 | 1.000 | 13 | 2005 | 2017 | |||||
|
10 | 0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 | 0.730 | 1.000 | 8 | 2004 | 2019 | ||||
|
6 | 0.851 | 0.160 | 12 | 112489093 | missense variant | A/C | snv | 0.720 | 1.000 | 11 | 2003 | 2019 | |||||
|
5 | 0.851 | 0.160 | 12 | 112473031 | missense variant | A/G | snv | 7.0E-06 | 0.710 | 1.000 | 9 | 2001 | 2011 | ||||
|
3 | 0.882 | 0.160 | 12 | 112488444 | missense variant | G/A;T | snv | 0.700 | 1.000 | 8 | 2004 | 2014 | |||||
|
3 | 0.882 | 0.160 | 12 | 112472954 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 2003 | 2014 | |||||
|
3 | 0.882 | 0.160 | 12 | 112488454 | missense variant | G/C | snv | 0.700 | 1.000 | 5 | 2006 | 2009 | |||||
|
7 | 0.827 | 0.160 | 3 | 12584624 | missense variant | G/C;T | snv | 0.700 | 1.000 | 5 | 2007 | 2010 | |||||
|
9 | 0.790 | 0.320 | 12 | 112489069 | missense variant | G/T | snv | 0.700 | 1.000 | 4 | 2004 | 2008 | |||||
|
5 | 0.827 | 0.160 | 12 | 112489068 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2006 | |||
|
37 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2007 | 2015 | ||||
|
6 | 0.807 | 0.280 | 7 | 140801551 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.280 | 7 | 140801537 | missense variant | T/A;C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 3 | 12585761 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 3 | 12585745 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 10 | 87933073 | missense variant | G/A | snv | 0.080 | 1.000 | 8 | 2004 | 2019 | |||||
|
5 | 0.851 | 0.160 | 12 | 112489093 | missense variant | AG/CC | mnv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||
|
2 | 0.925 | 0.160 | 2 | 39035268 | missense variant | G/A | snv | 8.0E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.160 | 12 | 112488465 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.160 | 12 | 112489106 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.160 | 19 | 18166272 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.851 | 0.280 | 10 | 87933162 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |