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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.100 | 1.000 | 14 | 1996 | 2019 | |||||
|
10 | 0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv | 0.100 | 1.000 | 10 | 1997 | 2019 | |||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.090 | 1.000 | 9 | 1997 | 2013 | |||||
|
14 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 0.050 | 1.000 | 5 | 2000 | 2017 | |||
|
6 | 0.807 | 0.120 | 14 | 73173577 | missense variant | C/G;T | snv | 0.050 | 1.000 | 5 | 1998 | 2018 | |||||
|
4 | 0.851 | 0.080 | 14 | 73219188 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||
|
10 | 0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 1996 | 2007 | |||||
|
7 | 0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv | 0.020 | < 0.001 | 2 | 1997 | 2019 | |||||
|
3 | 0.882 | 0.080 | 14 | 73192733 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 1996 | 2008 | |||||
|
7 | 0.790 | 0.120 | 14 | 73173646 | missense variant | T/A | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2006 | ||||
|
2 | 0.925 | 0.080 | 14 | 73206449 | missense variant | A/G | snv | 1.4E-04 | 4.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 14 | 73198064 | missense variant | T/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 14 | 73219192 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 14 | 73173698 | missense variant | G/A;T | snv | 6.4E-05 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.080 | 14 | 73186902 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
8 | 0.776 | 0.120 | 14 | 73170945 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 14 | 73192720 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
5 | 0.827 | 0.120 | 14 | 73192721 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
13 | 0.732 | 0.120 | 14 | 73192712 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.732 | 0.160 | 14 | 73219177 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.080 | 14 | 73186890 | missense variant | T/G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.120 | 14 | 73198052 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
8 | 0.827 | 0.120 | 14 | 73173644 | missense variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
8 | 0.827 | 0.120 | 14 | 73186881 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |