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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 14 | 73192761 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
5 | 0.851 | 0.120 | 14 | 73192760 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
13 | 0.732 | 0.120 | 14 | 73192712 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 14 | 73192711 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.827 | 0.080 | 14 | 73186902 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 14 | 73186884 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
8 | 0.827 | 0.120 | 14 | 73186881 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2007 | 2013 | |||||
|
5 | 0.882 | 0.080 | 14 | 73186878 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.080 | 14 | 73186869 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.080 | 14 | 73186867 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.080 | 14 | 73173687 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.080 | 14 | 73173684 | missense variant | C/G;T | snv | 5.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 14 | 73173669 | missense variant | A/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 14 | 73173654 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
7 | 0.790 | 0.120 | 14 | 73173646 | missense variant | T/A | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 1997 | 2008 | ||||
|
8 | 0.827 | 0.120 | 14 | 73173644 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2010 | 2018 | |||||
|
5 | 0.827 | 0.080 | 14 | 73173643 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
7 | 0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 1998 | 2003 | |||||
|
6 | 0.827 | 0.120 | 14 | 73173574 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2004 | 2015 | |||||
|
2 | 0.925 | 0.080 | 14 | 73171031 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.120 | 14 | 73171023 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.790 | 0.120 | 14 | 73170998 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.080 | 14 | 73170974 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
7 | 0.827 | 0.160 | 14 | 73170963 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 |